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10 Warning Signs of Primary Immunodeficiency

The Jeffrey Modell Foundation has created the 10 Warning Signs of Primary Immunodeficiency to continue its mission to assure earliest possible diagnosis.

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If you or someone you know is affected by two or more of the following Warning Signs, speak to a physician about the possible presence of an underlying Primary Immunodeficiency.

The 4 Stages of Testing Poster

To assist physicians in making a Primary Immunodeficiency diagnosis.

10 Warning Signs of WHIM

10 Warnings Signs of CGD

10 Warning Signs International

The Jeffrey Modell Foundation has created the 10 Warning Signs of Primary Immunodeficiency to continue its mission to assure earliest possible diagnosis.

Arabic

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Armenian

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Azerbaijani

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Bosnian

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Bulgarian

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Chinese

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Croatian

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Dutch

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English

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Estonian

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Farsi

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Finnish

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French

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German

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Greek

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Hebrew

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Hindi

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Hungarian

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Indonesian

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Italian

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Japanese

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Kazakh

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Korean

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Lithuanian

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Luganda (Uganda, Africa)

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Malay

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Mongolian

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Noni

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Oriya

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Pidgin (Cameroon, Africa)

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Polish

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Portuguese

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Romanian

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Runyakitara (Uganda, Africa)

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Russian

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Serbian

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Slovak

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Slovene

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Spanish

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Swahili

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Swedish

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Turkish

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Ukrainian

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Urdu

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Vietnamese

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Educational Books

In addition to the 10 Warning Signs Posters, we have produced the following educational materials to inform the public about Primary Immunodeficiency.

Funny Immunology To Save Lives!

English

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Spanish

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Portuguese

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Russian

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Arabic

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Immune System Posters

An educational illustration of how our immune system works.

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  • immune-system-dutch-child-resize-274x412-55e862640982b-original.jpg
  • immune-system-dutch-adult-resize-271x411-55e8625e4ed89-original.jpg
  • immune-system-spanish-resize-297x424-54db91594bd83-original.jpg
  • immune-system-polish-resize-409x578-54dbc681991f0-original.jpg
  • immune-system-slovene-resize-373x583-54dbc77be4cf2-original.jpg
  • immune-system-serbian-resize-383x582-54dbc7e8917b1-original.jpg
  • immune-system-german-resize-323x529-54dbbe3469ab4-original.jpg
  • immune-system-kazakh-resize-338x519-54dbbe3ad8571-original.jpg
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Informational Brochures

CGD Accordion Brochure

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A pocket-sized guide to Primary Immunodeficiency

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  • spanish-accordion-cover-2020-resize-826x600-5dfa5c5567368-original.jpg
  • fireman-resize-293x216-5bd9d97aa0dab-original.jpg
  • rockstar-spanish-resize-291x216-5bd9d980cc9ea-original.jpg

A detailed and informative guide to Primary Immunodeficiency.

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As well as in collaboration with our pharmaceutical partners!

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JMF Book - Immunology and Primary Immunodeficiencies

Immunology and Primary Immunodeficiencies

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The Fantastic Interleukins

English

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Spanish

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Why Immunology?

The Importance of the Immune System!

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Physician Education Materials

doctor.svgThe clinical presentation of Primary Immunodeficiency can be diverse. However, there are clinical findings at the level of different organs and systems requiring Primary Immunodeficiency suspicion; these findings must be quickly recognized by specialty care physicians.

La presentación clínica de las Inmunodeficiencias Primarias puede ser muy variada. Sin embargo, existen hallazgos clínicos a nivel de diferentes órganos y sistemas que obligan a sospechar Inmunodeficiencias Primarias; estos hallazgos deben ser rápidamente reconocidos por los médicos especialistas:

Clinical Trial: Do you have Chronic, Congenital, or Cyclical Neutropenia?

A Quick Guide to Activated PI3K Delta Syndrome (APDS)

A Guide for Medical Professionals - Chronic Granulomatous Disorder

  

Diagnostic Algorithm for Specialty Care Physicians

          

OMIM® - Online Mendelian Inheritance in Man®

OMIM® - Online Mendelian Inheritance in Man®


An Online Catalog of Human Genes and Genetic Disorders
OMIM contains information on all known mendelian disorders and over 15,000 genes, with a specific focus on the relationship between phenotype and genotype.

OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.  It is updated daily, and the entries contain copious links to other genetics resources.

Learn more at OMIM.org
 

Interesting Scientific Research

  • The FILL (Following infants with low lymphocytes) study developed as an offshoot and direct result of newborn screening for SCID and T cell lymphopenia (NBS SCID) in the United States.  This study intends to enroll infants who are initially identified during newborn screening (abnormal TREC result on SCID screening) and confirmed by a physician to have lymphopenia.  The study will collect data on 200 infants who are enrolled by April 1, 2018.  The FILL database was created and is maintained by the USIDNET, through a pilot grant provided by the Jeffrey Modell Foundation to the Clinical Immunology Society (CIS).   Patient data can be entered into the FILL Database either by enrollment through an USIDNET center, or through direct physician referral to USIDNET.  All patients enrolled in the study have to be consented through an IRB protocol.

    We strongly urge you to enroll your patients with T cell lymphopenia identified by SCID newborn screening in the FILL study so that there is evidence-based data to better understand, follow and manage infants with lymphopenia.

  • Clinical Trial Opportunity for Patients with Chronic Mucocutaneous Candidiasis
    Chronic Mucocutaneous Candidiasis often results from an underlying immune deficiency that leads to abnormalities in a person’s control of fungal infections such as candida.  Investigators at NIAID are seeking people with chronic mucocutaneous candidiasis (oropharyngeal, esophageal or vulvovaginal candidiasis) that are refractory or intolerant to standard non-intravenous therapies to participate in a clinical research trial.  For additional information please contact Dr. Alexandra Freeman (freemaal@mail.nih.gov) or see https://clinicaltrials.gov/ct2/show/NCT02629419.

  • Monozygotic twins discordant for CVID reveal impaired DNA demethylation during naïve-to-memory B-cell transition

  • 'JEDI' technology awakens new understanding of how immune system works

Clinical Trials, Physician Research Opportunities

  • Ground Breaking News for Patients with LAD-1 deficiency!

Some exciting news just in! Rocket Pharma has disclosed exciting information about their gene therapy trial for patients with LAD-1 deficiency. Please read the summary, which describes the clinical trial, the disease, and the six month data showing the therapy was well tolerated and induced a restoration of CD18 levels.

 

  • X4 Pharmaceuticals planning to start a Phase 3 clinical study: “A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial of mavorixafor (X4P-001) in Patients with WHIM Syndrome with Open-Label Extension”

WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis) is a rare autosomal dominant primary immunodeficiency disease caused by gain-of-function mutations in the chemokine receptor CXCR4.  CXCR4 mutations induce increased leukocyte homing and retention in the bone marrow resulting in severe chronic neutropenia and lymphopenia.  

X4 Pharmaceuticals is planning to sponsor a 52-week global Phase 3 study to evaluate the safety and efficacy of mavorixafor, a once-daily oral CXCR4 antagonist, in genetically confirmed WHIM patients who are aged 12 years or older.  Mavorixafor is a first-in-class, oral, small molecule antagonist of the CXCR4 chemokine receptor that has demonstrated a favorable safety profile and dose-dependent increases in ANC and ALC in a Phase 2 study. Trial subjects will participate in a one-year trial with an opportunity to continue in the subsequent open label extension.  Travel support to study sites will be provided. 

To support confirming the diagnosis of WHIM, X4 Pharmaceuticals will offer genetic testing at no charge to patients meeting eligibility criteria suggestive for the disease.  For information and support for genetic confirmation of your patients with suspected WHIM, please contact patientinfo@x4pharma.com.

To learn more about X4 Pharmaceuticals, visit their website, at x4pharma.com

  • The FILL (Following infants with low lymphocytes)

This study developed as an offshoot and direct result of newborn screening for SCID and T cell lymphopenia (NBS SCID) in the United States.  This study intends to enroll infants who are initially identified during newborn screening (abnormal TREC result on SCID screening) and confirmed by a physician to have lymphopenia.  The study will collect data on 200 infants who are enrolled by April 1, 2018. The FILL database was created and is maintained by the USIDNET, through a pilot grant provided by the Jeffrey Modell Foundation to the Clinical Immunology Society (CIS).   Patient data can be entered into the FILL Database either by enrollment through an USIDNET center, or through direct physician referral to USIDNET.  All patients enrolled in the study have to be consented through an IRB protocol.

We strongly urge you to enroll your patients with T cell lymphopenia identified by SCID newborn screening in the FILL study so that there is evidence-based data to better understand, follow and manage infants with lymphopenia.

  • Clinical Trial Opportunity for Patients with Chronic Mucocutaneous Candidiasis

Chronic Mucocutaneous Candidiasis often results from an underlying immune deficiency that leads to abnormalities in a person’s control of fungal infections such as candida.  Investigators at NIAID are seeking people with chronic mucocutaneous candidiasis (oropharyngeal, esophageal or vulvovaginal candidiasis) that are refractory or intolerant to standard non-intravenous therapies to participate in a clinical research trial.  For additional information please contact Dr. Alexandra Freeman (freemaal@mail.nih.gov) or see https://clinicaltrials.gov/ct2/show/NCT02629419.

Funny Immunology To Save Lives!

English

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Spanish

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Portuguese

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Russian

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Arabic

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In the IMMUNEWS

The IMMUNEWS showcases exciting Foundation programs and events, and also focuses on community and industry news.

Choose from one of our issues below:

IMMUNEWS – 2011

IMMUNEWS – 2010

IMMUNEWS – 2009

IMMUNEWS – 2008

IMMUNEWS – 2007

IMMUNEWS – 2006

IMMUNEWS – 2005

IMMUNEWS – 2004

IMMUNEWS – 2003

IMMUNEWS – 2002

IMMUNEWS – 2001

Reading Materials

We want to share stories, experiences, scientific textbooks, and the knowledge of physicians, families, and patient organizations within the Primary Immunodeficiency community.

Medikidz Explain Primary Immunodeficiency 
Read more

Common Variable Immunodeficiency to Solve the Variable of the Equation 
Read more

Read more

Primary Immunodeficiency Diseases: A Molecular and Genetic Approach 
Read more

Andy & Sofia - Stem Cells, Scientific Miracles and One Fit Savior 
Read more

New Concepts in Immunodeficiency Diseases 
Read more

The Newborn Screening Story – How One Simple Test Changed Lives, Science, and Health in America 
Read more

DSAI Cartoon Books - Immune 
Read more

A short guide to CGD written by medical professionals for medical professionals 
Read more

Ons Afweersysteem 
By: Stichting voor AfweerStoornissen (Netherlands Patient Organization) 
Read more

Immune Deficiency Foundation 
The Immune Deficiency Foundation (IDF) has produced many educational materials to benefit the Primary Immunodeficiency Community. Please click on the below links or visit www.primaryimmune.org to access many more.

IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, 5th Edition 
Read more

Our Immune System 
Read more

IPOPI Booklets on 6 Primary Immunodeficiencies 
The International Patient Organization for Primary Immunodeficiencies (IPOPI) has produced many different booklets about Primary Immunodeficiencies. Please click the below links for these leaflets, and visit ipopi.org to view many more:

Scientific Publications

beakers.svgIf you're looking for information on groundbreaking scientific material, you’ll find some of it here. See below for a list of publications about gene discovery, new defects, and more.

Author(s):
Quinn, J., Modell, V., Aradhya S., Johnson B., Orange, J.S., Poll, S., Modell, F.
Name:
Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency
Author(s):
Frontiers in Immunology
Publication Date:
2022 June 10
DOI:
doi: 10.3389/fimmu.2022.906540
Author(s):
Rider N, Miao D, Dodds M, Modell V, Modell F, Quinn J, Schwarzwald H, Orange J.
Name:
Calculation of a Primary Immunodeficiency "Risk Vital Sign" via Population-Wide Analysis of Claims Data to Aid in Clinical Decision Support.
Author(s):
Frontiers in Pediatrics.
Publication Date:
2022 April 16
DOI:
doi: 10.3389/fped.2019.00070
Name:
Global study of primary immunodeficiency diseases (PI) – diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation
Author(s):
Springer
Publication Date:
2022 April 16
DOI:
doi: 10.100/s12026-011-8241-y
Name:
The Impact of Physician Education & Public Awareness on Early Diagnosis of Primary Immunodeficiency
Publication Date:
2022 April 16
Name:
From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of Primary Immunodeficiencies
Author(s):
Immunologic Research
Publication Date:
2022 April 16
DOI:
doi: 10.1007/s12026-008-8092-3
Name:
June 2007 IUIS PI Expert Committee Summary Report - Geha RS, et al
Publication Date:
2022 April 16
Name:
Immunology Today and New Discoveries: Building Upon Legacies of Dr. Robert A. Good
Publication Date:
2022 April 16
Name:
Consensus Recommendations for the use of Immunoglobulin Replacement Therapy in Immune Deficiency
Author(s):
APIIEG
Publication Date:
2022 April 16
Name:
Timeline of Discovery, Advances in Treatment, and Scientific Understanding of PI
Publication Date:
2022 April 16
Name:
Council for Harvard Medicine Keynote: December 8, 2005
Publication Date:
2022 April 16
Author(s):
Quinn, J., Modell, V., Orange, J.S., Modell, F.
Name:
Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network.
Author(s):
Allergy Asthma Clin Immunol.
Publication Date:
2022 March 22
DOI:
doi: 10.1186/s13223-022-00662-6
Author(s):
Quinn J, Modell V, Holle J, Truty R, Aradhya S, Johnson B, Orange J, Modell F.
Name:
Jeffrey’s insights: Jeffrey Modell Foundation’s global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Author(s):
Immunologic Res.
Publication Date:
2020 May 27
DOI:
doi: 0.1007/s12026-020-09131-x
Author(s):
Quinn J, Orange J, Modell V, Modell F.
Name:
The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time
Author(s):
Immunologic Res.
Publication Date:
2020 March 4
DOI:
doi: 10.1007/s12026-020-09117-9
Author(s):
Modell V, Orange J, Quinn J, Modell M.
Name:
Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes.
Author(s):
Immunologic Res.
Publication Date:
2018 May 9
DOI:
doi: 10.1007/s12026-018-8996-5
Author(s):
Aghamohammadi A, Abolhassani H, Quinn J, Modell F, Modell V, The JMF Centers Network Investigators and Study Collaborators, et al.
Name:
Patients with Primary immunodeficiencies are a reservoir of Poliovirus and a risk to Polio eradication.
Author(s):
Frontiers in Immunology
Publication Date:
2017 June 1
Author(s):
Modell V, Quinn J, Ginsberg G, Gladue R, Orange J, Modell F.
Name:
Modeling strategy to identify patients with primary immunodeficiency utilizing risk management and outcome measurement.
Author(s):
Immunologic Res.
Publication Date:
2017 February 21
DOI:
doi: 10.1007/s12026-017-8907-1
Author(s):
Modell V, Quinn J, Orange J, Notarangelo LD, Modell F.
Name:
Primary Immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network.
Author(s):
Immunologic Res.
Publication Date:
2016 January 22
DOI:
doi: 10.1007/s12026-016-8784z
Name:
Genetics of SCID
Publication Date:
2015 November 15
Author(s):
Modell V, Knaus M, Modell F, Roifman C, Orange J, Notarangelo LD.
Name:
Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery.
Author(s):
Immunologic Res.
Publication Date:
2014 March 26
DOI:
doi: 10.1007/s12026-014-8498-z
Author(s):
Modell V, Knaus M, Modell F.
Name:
An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia.
Author(s):
Immunologic Res.
Publication Date:
2014 March 6
DOI:
doi: 10.1007/s12026-014-8485-4
Author(s):
Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O'Reilly RJ, Fleisher TA, Pai SY, Martinez CA, Buckley RH, Cowan MJ.
Name:
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience.
Author(s):
J Allergy Clin Immunol.
Publication Date:
2013 November 27
DOI:
doi: S0091-6749(13)01495-4
Author(s):
Rawat A, Singh S, Suri D, Gupta A, Saikia B, Minz RW, Sehgal S, Vaiphei K, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Chan KW, Lau YL.
Name:
Chronic granulomatous disease: two decades of experience from a tertiary care centre in north west India.
Author(s):
J Clin Immunol.
Publication Date:
2013 November 26
DOI:
doi: 10.1007/s10875-013-9963-5
PMID:
24276928
Author(s):
Costa-Carvalho BT, Grumach AS, Franco JL, Espinosa-Rosales FJ, Leiva LE, King A, Porras O, Bezrodnik L, Oleastro M, Sorensen RU, Condino-Neto A.
Name:
Attending to Warning Signs of Primary Immunodeficiency Diseases across the range of clinical practice.
Author(s):
J Clin Immunol.
Publication Date:
2013 November 16
DOI:
doi: 10.1007/s10875-013-9954-6
PMID:
24241582
PMCID:
PMC3930833
Author(s):
Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM.
Name:
GATA2 deficiency: a protean disorder of haematopoiesis, lymphatics and immunity.
Author(s):
Blood.
Publication Date:
2013 November 13
DOI:
doi: 10.1182/blood-2013-07-515528
PMID:
24227816
PMCID:
PMC3916876
Author(s):
Sharfe N, Nahum A, Newell, Dadi H, Ngan B, Pereira SL, Herbrick JA, Roifman CM.
Name:
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.
Author(s):
J Allergy Clin Immunol .
Publication Date:
2013 November 13
DOI:
doi: 10.1016/j.jaci.2013.09.032.
PMID:
24239102
Author(s):
Hurst JR, Workman S, Garcha DS, Seneviratne SL, Haddock JA, Grimbacher B.
Name:
Activity, Severity and Impact of Respiratory Disease in Primary Antibody Deficiency Syndromes.
Author(s):
J Clin Immunol.
Publication Date:
2013 October 18
DOI:
doi: 10.1007/s10875-013-9942-x
PMID:
24136152
Author(s):
Platt C, Geha RS, Chou J.
Name:
Gene hunting in the genomic era: Approaches to diagnostic dilemmas in patients with primary immunodeficiencies.
Author(s):
J Allergy Clin Immunol.
Publication Date:
2013 October 4
DOI:
doi: 10.1016/j.jaci.2013.08.021.
PMID:
24100122
PMCID:
PMC3976463
Author(s):
Zhang L, Thrasher AJ, Gaspar HB.
Name:
Current progress on gene therapy for primary immunodeficiencies.
Author(s):
Gene Ther.
Publication Date:
2013 October 1
DOI:
doi: 10.1038/gt.2013.21.
PMID:
23719067
Author(s):
Milner JD, Holland SM.
Name:
The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases.
Author(s):
Nat Rev Immunol.
Publication Date:
2013 September 1
DOI:
doi: 10.1038/nri3493.
PMID:
23887241
Author(s):
Orange JS.
Name:
Natural killer cell deficiency.
Author(s):
J Allergy Clin Immunol.
Publication Date:
2013 September 1
DOI:
doi: 10.1016/j.jaci.2013.07.020
PMID:
23993353
PMCID:
PMC3917661
Author(s):
Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL.
Name:
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.
Author(s):
J Clin Immunol.
Publication Date:
2013 August 1
DOI:
doi: 10.1007/s10875-013-9901-6
PMID:
23657403
PMCID:
PMC4083684
Author(s):
Ives ML, Ma CS, Palendira U, Chan A, Bustamante J, Boisson-Dupuis S, Arkwright PD, Engelhard D, Averbuch D, Magdorf K, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Cook MC, Picard C, Durandy A, Tsmura M, Kobayashi M, Uzel G, Casanova JL, Tangye SG, Deenick EK
Name:
Signal transducer and activator of transciprtion 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.
Author(s):
J Allergy Clin Immunol.
Publication Date:
2013 August 1
DOI:
doi: 10.1016/j.jaci.2013.05.029.
PMID:
23830147
PMCID:
PMC3785237
Author(s):
Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM.
Name:
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
Author(s):
J Allergy Clin Immunol.
Publication Date:
2013 July 1
DOI:
doi: 10.1016/j.jaci.2013.04.024
PMID:
23810098
PMCID:
PMC3759317
Author(s):
Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP.
Name:
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
Author(s):
J Allergy Clin Immunol.
Publication Date:
2013 June 1
DOI:
doi: 10.1016/j.jaci.2013.01.042.
PMID:
23522482
PMCID:
PMC3824285
Author(s):
Carneiro-Sampaio M, Moraes-Vasconcelos D, Kokron CM, Jacob CM, Toledo-Barros M, Dorna MB, Watanabe LA, Marinho AK, Castro AP, Pastorino AC, Silva CA, Ferreira MD, Rizzo LV, Kalil JE, Duarte AJ.
Name:
Primary Immunodeficiency diseases in different age groups: A report on 1,008 cases from a single Brazilian reference center.
Author(s):
J Clin Immunol.
Publication Date:
2013 May 1
DOI:
doi: 1007/s10875-013-9865-6.
PMID:
23354909
Author(s):
2Abraham RS, Recher M, Giliani S, Walter JE, Lee YN, Frugoni F, Maddox DE, Kirmani S, Notarangelo LD.
Name:
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.
Author(s):
J Allergy Clin Immunol.
Publication Date:
2013 May 1
DOI:
doi: 10.1016/j.jaci.2012.09.016.
PMID:
23122631
Author(s):
Kotlarz D, Ziętara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchałka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C.
Name:
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Author(s):
J Exp Med.
Publication Date:
2013 March 13
DOI:
doi: 10.1084/jem.20111229.
PMID:
23440042
PMCID:
PMC3600901
Author(s):
Puck JM
Name:
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
Author(s):
J Allergy Clin Immunol
Publication Date:
2012 March 1
DOI:
doi: 10.1016/j.jaci.2012.01.032.
PMID:
22285280
PMCID:
PMC3294074
Author(s):
Somech R.
Name:
T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders.
Author(s):
Curr Opin Allergy Clin Immunol.
Publication Date:
2011 December 11
DOI:
doi: 10.1097/ACI.0b013e32834c233a.
PMID:
21971333
Author(s):
Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, Baker MW.
Name:
Statewide newborn screening for severe T-cell lymphopenia.
Author(s):
JAMA.
Publication Date:
2009 December 9
DOI:
doi: 10.1001/jama.2009.1806
PMID:
19996402

News Articles

newspaper.svgHere in the archives, there are a variety of articles filed away. You can read about everything from the ongoing efforts of the Jeffrey Modell Foundation, to the latest published information about Primary Immunodeficiency. Just choose from any of the following articles.

Global PI Village "Spotlight" Series: Kathryn Marvel

Name: Kathryn Marvel

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When did you join JMF? I joined JMF last April.

Role: Executive Assistant, Win Program Coordinator - My role is mainly administrative and I really enjoy it because I get to work on a variety of interesting projects and every day is different.

What inspires you? People who are very dedicated to what they do.

What aspect of JMF do you find most special? I love the feeling of being a part of something so meaningful that has such a far reaching positive impact. It's very motivating and everyone in the office is very passionate about what they do.

What’s your favorite JMF memory? I love working on the "Roots & Wings" Program with Vicki!

Favorite Quote: I can't pick just one...but I do love “I Shall not Live in Vain”.

If I can stop one Heart from breaking

I shall not live in vain 

If I can ease one Life the Aching

Or cool one Pain

Or help one fainting Robin

Unto his Nest again

I shall not live in Vain. 

To Sum Up! I grew up in Western Massachusetts and went to Colgate University where I studied History and Arabic. After graduation, I lived in Egypt for four years and it was a great experience! I moved back to New York two years ago and then I found the Jeffrey Modell Foundation by luck and here I am!

Global PI Village "Spotlight" Series: Catherine Jackson

From time to time, we will interview and shine a light on someone special who works hard each and every day, to encourage, support, and enhance the lives of patients with Primary Immunodeficiency.

Our first "spotlight" is on one of our very own…

Name: Catherine Jackson When did you join JMF? On February 6, 2012 I officially joined the JMF Team!

Role: I gladly accepted the role as a Receptionist but as we know, in this day and age a Receptionist role isn’t just about answering the phones and greeting guest. At JMF, because we are a small staff, you must be willing to “step in” to pitch where need be. I represent JMF’s Receptionist, I am JMF’s Guest Greeter, JMF’s (in-house) Events Coordinator, Vicki and Fred’s Assistant, a colleague, a friend, and a listening ear…

What inspires you? Humans! Ha! We are amazing “creatures”. How we think, act, communicate, invent and create, etc. Humans are unstoppable! I truly believe we all have a purpose and it’s our responsibility to seek where our passion lies so we can have an abundant life.

What aspect of JMF do you find most special? Vicki and Fred’s passion…they are a wonderful and inspirational Team! Their generosity and compassion. See, unless you work here you really don’t see the daily “hustle and bustle”. Prime example, when a child with PI is discovered it’s an “automatic”….what can we do for this child - NOW! Actions are taken immediately! I have to mention our Executive Director Vanessa because she too deserves credit. Although, Vicki and Fred give the final decision her passion behind the PI Community is no less. She is hands on at all times and when there’s a stall, she will ensure movement right-away.

What’s your favorite JMF memory? The day that I saw a picture of Vicki, Fred, and Vanessa in scrubs, holding Baby Jared with his mom Jessica. That’s when JMF made sense to me, and when the reality of what they stand for made history…

Favorite Quote: “Give a girl the right shoes, and she can conquer the world.” - Marilyn Monroe

To Sum Up! I am a Latin woman! My parents were from Colombia and Dominican Republic. I am the youngest of 5 daughters, a wife and a mother of 3. To my family and friends I share my love for music, dancing, and poetry. My at times over-the-top spirit and my “bubbly” personality. Life is good, I’m thankful; therefore, my heart is full of joy and you will always see me smile….(plus, it’s a good anti-wrinkle remedy).

Learn About A Special Friendship And How It Grew!

Let us introduce you to two very special friends, Ezra and BIG IGI! Learn about their friendship that has grown into a long and lasting bond... Ezra Fineman has PI and one afternoon, Big IGI surprised him at his home and spent hours playing with him; from racing cars, to building space ships! Big IGI first appeared at a 2011 conference and has since lifted kids' spirits during tough times because—like them—he has PI. Maybe BIG IGI can be there for you too! http://bigigivisit.com/

Get to know Ezra better! https://www.facebook.com/Help4Ezra

Going “Behind the Mystery” of CGD with Lifetime!

On Monday, June 22 and Monday, June 29 Lifetime’ s “The Balancing Act®” will present a half hour feature on Chronic Granulomatous Disease (CGD) within their “Behind the Mystery” segment.

Patients with CGD experience recurrent viral and bacterial infections, most commonly in the lungs. They may also often have inflammation in tissues within the gastrointestinal and genitourinary tracts. Additional symptoms may include abscesses, recurrent skin infections, bone and joint infections, persistent diarrhea, and frequent pneumonias.

As one of America’s premier morning shows, The Balancing Act® will be able to reach an audience of thousands and help them better understand CGD. Viewers will learn all about CGD; what it is like to live with, and how it is treated – all being discussed by a physician and patient familiar with the disease. The episode will feature Hematologist and Children’s Blood Disorder Specialist, Dr. Daniel Ambruso and one of his special patient families as they talk about living with CGD

Don’t forget to tune in on Monday June 22 and Monday June 29 at 7:30 a.m. (ET/PT) on Lifetime!

Healthy Sam has reason to celebrate!

Sam Poynton, from Sydney Australia, was diagnosed with PI at age 3. According to his mother, “Sam was always one of those kids who was always a little unwell,” 

After over 12 months of various illnesses and trips to the hospital, Sam was successfully treated with a bone marrow transplant.

Now at age 5, Sam is smiling bright while he sets free balloons and blows bubbles to celebrate WPIW with ­Dr. John Ziegler at Sydney Children’s Hospital with big smiles.

Five Days Until WPIW 2015!

In just five short days the Primary Immunodeficiency Community is uniting to create awareness and provide education around the world! For the past five years, organizations all over the world have participated in World PI Week celebratory events to help spread awareness and education about PI. Once again, sites all over the world will participate in the Jeffrey Modell Foundation “Balloons and Bubbles Launch”. This year over 105 locations are participating – making WPIW 2015 bigger and better than ever!

Read the full press release here.

WPIW “Burst the Bubble” Picture Contest

This year we want to *Pop*, *Explode*, and “Burst the Bubble” About Primary Immunodeficiency! Join JMF by posting a picture of yourself creating bubbles! Post and tag them to the JMF Facebook page along with the caption… You can use soap bubbles, make a bubble from your chewing gum, or even blow them in your chocolate milk – the options are endless and we are excited to see the imaginative and unique ways all of you will participate. Be Clever! Be Cheerful! Be Creative! The best part is that you can "Burst the Bubble" anywhere and with anyone! The five pictures with the most “likes” at the end of World PI Week 2015 will win great JMF prizes! Winners will be announced the week of May 4th. How will you help “Burst the Bubble” about Primary Immunodeficiency? We look forward to seeing what you create and share with the JMF family. Don’t forget to post your pictures to our Facebook page, tag us, and include the #JMF hashtag!

You’re Invited to JMF’s WPIW Virtual Party!

Fred and I have always been so grateful to have friends in so many different countries. We may not be in the same place, but we are all connected by the same thing – our strong belief in the importance of educating and spreading awareness about Primary Immunodeficiency.

The only downside to having so many friends in so many different places is that we aren’t able to celebrate World PI Week together.

So, I have a great idea! Since our community stretches across the entire world, let’s have a Virtual WPIW Party! Even though we can’t actually be with each other during this week of celebration of recognition of PI – let’s pretend!!

Print out the JMF picture frames below, cut out the middle and pass it around at your WPIW celebration! Take photos with your friends and family, your doctors and nurses, smiling bright and making silly faces! There is no limit to the number of pictures you can take or the fun you can have!

With so many picture frame photos it will feel as if we’re all together at the same party!

Then, post your pictures to our Facebook page, or send them to us via info@jmfworld.org and we’ll be able to compile an amazing “Virtual Party” photo album to be published the week of May 4th.

They call it World PI Week for a reason! We’ll be able to share these memories with our entire community, reaching every corner of the world! Let’s pretend that we aren’t miles apart or that oceans divide us, and that we are one strong and powerful voice, standing together to save lives. Let’s make WPIW 2015 the biggest and best celebration yet.

WPIW is such an exciting and fun time and I am very much looking forward to “seeing” you during the celebrations!

Applications Can Be Submitted Now For 2015 CIS Summer School!

The Clinical Immunology Society Summer School is geared toward fellows-in-training, with a primary goal of education in the diagnosis, pathogenesis, and treatment of Primary Immunodeficiency diseases. The secondary goals of the Summer School are to attract and develop future scientists in academic medicine and to enhance the awareness of clinical Immunology and its importance in scientific discoveries and clinical applications. This program encourages student interaction with faculty and thought leaders in Immunology in a casual and intimate setting. 

To learn more and apply for this year’s program, visit http://www.clinimmsoc.org/education/meetings/2015-pid-summer-school/applicationselection-process

Researchers Discover Link between Childhood Leukemia and Bruton Tyrosine Kinase Gene.

A Western University study demonstrates that reduced expression of the Bruton Tyrosine Kinase (BTK) gene plays a key role in acute lymphoblastic leukemia (ALL).

BTK has been extensively studied in human populations because of its well-known association to a Primary Immunodeficiency called X-linked agammaglobulinemia. 

Read the full article here.

The New England Journal of Medicine Reports on "Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections"

A shortened immunoglobulin half-life was determined to be the mechanism underlying hypogammaglobulinemia. Impaired viral replication and cellular entry may explain a decreased susceptibility to infections. 

Read the full story here.

ADMA Biologics Announces Positive Top-Line Phase III Data for Primary Immune Deficiency Disease (PIDD) Patients

ADMA Biologics, Inc., a biopharmaceutical company that specializes in plasma-based biologics for the treatment and prevention of certain infectious diseases, announced its lead product candidate demonstrated positive results based off a clinical trial of 59 patients with primary immunodeficiency .

Additional endpoints include incidence of all infections (serious & non-serious), lost days of work or school, hospitalizations, emergency room visits and antibiotic use among others.

Adam Grossman, President & CEO of ADMA Biologics, stated, "This is a tremendous milestone for our Company and for immune compromised patients… We are proud and encouraged that based upon the initial review, RI-002 has met its primary endpoint of preventing serious bacterial infections such as bacterial pneumonia, osteomyelitis and bacterial sepsis in immune compromised PIDD patients."

 Read the full article here.

"DOCK8 Helps Mobilize Immune Cells in the Skin"

New findings explain why DOCK8-Deficient patients are susceptible to infections. 

NIAID scientists have discovered a clear role for DOCK8 in the immune system. When DOCK8 is missing or mutated, T and NK cells cannot move across dense tissues like the skin, preventing immune cells from clearing viral infections. 

Read the full article here.

Global PI Village "Spotlight" Series: Theresa Silk

Name: Theresa Silk

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When did you join JMF? January 17, 2012 

Role: Program Assistant- INFO4PI

We Get Mail!-We get numerous inquiries about PI through our Website or via email. Whether it’s a concerned parent, a physician that wishes to become a part of our esteemed network of Expert Immunologists, pharmaceutical representatives requesting a 10 Warning Signs or our Educational Brochures or just someone that has seen our PSA’s and wants to learn more about PI. We provide information with Vicki’s guidance to answer these inquiries.

I also manage donor acknowledgments, making sure that the generous contributions we receive are deposited and acknowledged in a timely manner.

Lastly, I provide back up to Catherine on all her receptionist duties.

What inspires you? Helping others….. Most of my working career has been spent in the nonprofit sector.

I am a CERT volunteer (Community Emergency Response Team), Building Homes for Heroes and I coordinate a commemorative ceremony each year at World Trade Center Memorial that has been erected in the town in which I live.

What aspect of JMF do you find most special? The tremendous growth of the organization since it was created.

Many years ago, Vicki and Fred were introduced to an organization called the CEC Children’s Fund (which later on became Futures & Options for Kids). This organization provided grants to children’s charities. In 1989, JMF was given a small grant by Futures & Options for Kids to become a “Founder” and thus began a relationship that endured until 2009.

Futures & Options for Kids provided grants for KIDs Day in New York City and would request interim progress reports which included the JMF newsletter. It was amazing to witness the “global” growth of JMF throughout the years. And today, it is even more amazing as an employee, to witness the continued growth of JMF!

What’s your favorite JMF memory? Meeting Jared for the first time. He is indeed a “Miracle baby”!

Favorite Quote: “And if one door opens to another door closed, I hope you keep on walkin’ til you find a window.” – My Wish, Rascal Flats 

To Sum Up! I’ve always considered my role as a parent to be my most important “job”. But my new role as a grandparent has brought such tremendous joy and happiness to me!

FDA Approves Baxter’s HyQvia for Treatment of Adults with Primary Immunodeficiency

HYQVIA is the first subcutaneous immune globulin (IG) treatment approved for PI patients with a dosing regimen requiring only one infusion up to once per month (every three to four weeks) and one injection site per infusion to deliver a full therapeutic dose of IG.

The majority of PI patients today receive intravenous infusions in a doctor's office or infusion center, and current subcutaneous IG treatments require weekly or bi-weekly treatment with multiple infusion sites per treatment.

"Gene-Therapy Trial for ‘Bubble Boy Syndrome’ Shows Promise"

A recent trial at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center revealed that patients with SCID who had received gene-therapy showed promising results.

David A. Williams of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and principal investigator for the trial’s U.S. sites, said the research is “highly suggestive this trial will be safe.”

Without treatment, which is currently stem-cell transplants primarily from bone marrow, most children die before the age of 2.

The study was recently reported in the Wall Street Journal, you can read the entire article here.

Diagnostic Algorithm for Specialty Care Physicians

An Expert Immunologist, Dr. Juan Carlos Aldave from Peru, has skillfully created an algorithm for sub-specialists to recognize the symptoms of Primary Immunodeficiency. The clinical presentations of PI can be very diverse, affecting different organs and systems. In order to achieve earliest possible and correct diagnosis, these findings must be quickly recognized by specialty care physicians!

Dr. Aldave has compiled a chart of various symptoms and the possible PI’s they can stem from. Visit our Library and read our Physician Education tab in the Educational Materials to learn more.

JMF “Bursts the Bubble” about PI for #GivingTuesday

On Tuesday, December 2nd, the Jeffrey Modell Foundation will align with the United Nation’s #GivingTuesday to help promote a global day of giving back.

Join the Jeffrey Modell Foundation & #GivingTuesday by posting a picture of yourself creating bubbles on Facebook on Tuesday, December 2! Tag us and add the caption “I’m joining the Jeffrey Modell Foundation to help “Burst the Bubble” about PI! Learn the 10 Warning Signs of Primary Immunodeficiency and much more by visiting www.INFO4PI.org! #JMF #GivingTuesday”

You can use soap bubbles, make a bubble from your chewing gum, or even blow them in your chocolate milk – the options are endless and we are excited to see the creative and unique ways our community will participate.

At JMF, we strive to do good every day and we are excited to align with such a powerful message of giving back worldwide! We hope to further spread our mission about the importance of education and awareness about Primary Immunodeficiency! How will you help “Burst the Bubble” about Primary Immunodeficiency?

We look forward to seeing your bubbles and don’t forget to include the #JMF and #GivingTuesday hashtags! 

To learn more about #GivingTuesday and other participants visit www.GivingTuesday.org

International Plasma Awareness Week October 12th-18th 2014

The Jeffrey Modell Foundation is proud to support the Plasma Protein Therapeutics Association (PPTA) and International Plasma Awareness Week (IPAW).

Plasma, which can be found in our blood, carries many important elements that help keep the body healthy.

"People throughout the world rely on plasma protein therapies which are developed through the generosity and commitment of plasma donors. PPTA is proud of the contributions we and our member companies make to saving and improving lives..." said Joshua Penrod, PPTA, Vice President.

Plasma donations are extremely important and needed to treat many different conditions, including Primary Immunodeficiency.

IPAW launches on Sunday, October 12 and will run until Saturday, October 18 2014. Make sure to stay connected with JMF as we share important information about donating plasma – the where’s, what’s, and how’s!

To learn even more about plasma donation, visit www.donatingplasma.org and look for key facts being shared through the JMF social channels – JMF Facebook, @info4pi (Twitter), @info4pi (Instagram) !

Happy New Year to all babies in the state of Washington!

A major victory has taken place in the state of Washington. Happy New Year to all the babies who will be screened for Severe Combined Immunodeficiency from now on.

This genetic birth defect is more commonly known as, “The Bubble Boy” disease and leaves children with no immune system and tragically, can lead to death before their first birthday. With no protection from diseases and even the common cold, Fred and Vicki Modell saw no other choice but to fight for these defenseless babies.

Due to five years of hard work, dedication, and passion, the Modell’s have made it possible for countless babies to receive the necessary transplants to save their lives.

The success in Washington is merely a stepping stone to the ultimate goal. There are still 27 states that are preparing for implementation and eight that remain unengaged. The fight continues to push state legislators to include newborn screening for SCID on the panel.

Global Polio Study Begins

An unprecedented surveillance study launches today to contribute to global polio eradication efforts. Recent outbreaks of Polio in Israel, Syria, Kenya, South Sudan, and Somalia have once again placed the virus at the forefront of Public Health Officials' concerns.

The Jeffrey Modell Foundation's surveillance study will focus on patients with Primary Immunodeficiencies (PI) who have either received the Oral Polio Vaccine (OPV), a live-weakened form of the virus, or have been exposed to it. Due to little or no immune system, when a patient with PI receives OPV, he or she is unable to create an immune response and therefore, cannot clear the intestinal vaccine virus infection, which is typically excreted within six to eight weeks by individuals with healthy immune systems.

World PI Week is Coming Soon

10 Good Reasons to Participate in World Primary Immunodeficiency Week 2013

1.Raise awareness of Primary Immunodeficiency in your community.

2.Support advocacy efforts with government officials.

3.Build support for your organization and mission/ raise funds to support your activities.

4.Gain more attention around your activities/ attract media attention.

5.Spread the word about the lack of recognition, diagnosis of PI and access to adequate treatment.

6.Support your patient group or local chapter.

7.Educate new patients and their families; schools and health professionals.

8.Attract more volunteers and members.

9.Promote the Global PI Call to Action in support of greater awareness, understanding, diagnosis and optimal management of PI.

10.Adapt the World PI Week messaging to address the unique challenges surrounding PI in your country.

Learn more, visit us at: www.worldpiweek.org

Jeffrey Modell Foundation Achieves Coveted 4-Star Rating from Charity Navigator

Ken Berger, President and CEO of Charity Navigator, awarded the Jeffrey Modell Foundation its highest 4-star rating for sound fiscal management and commitment to accountability and transparency.

Charity Navigator is a service that assists the general public in allocating their donations intelligently. Teams of analysts assess over 6,000 charitable organizations to ensure that best practices are maintained.

Utilizing an unbiased, objective, and data-driven approach, the Charity Navigator Team bases their assessment of charities on financial health, transparency, and accountability. Donors are informed as to how well a charity is allocating their funds, how well programs are sustained and managed, and ultimately, the charity’s commitment to good governance.

By achieving a 4 out of 4 star rating, Charity Navigator has indicated that the Jeffrey Modell Foundation exceeds industry standards and outperforms others within its cause.

According to Ken Berger, “this ‘exceptional’ designation from Charity Navigator differentiates Jeffrey Modell Foundation from its peers and demonstrates to the public it is worthy of their trust”.

Vicki Modell, Co-Founder of JMF added, “We continue to be honored by this designation from Charity Navigator and we hope that this prestigious rating assures our donors and the general public of the integrity of our work and commitment to our mission”.

"Berlin Declaration" Mandates Newborn Screening Globally

212 world-renowned experts in Primary Immunodeficiency from 78 countries signed a “Berlin Declaration” calling for global implementation of newborn screening for Severe Combined Immunodeficiency (SCID), at the recently convened Berlin Summit organized by the Jeffrey Modell Foundation.

The meeting brought together physicians from the Jeffrey Modell Centers Network (JMCN) addressing new discoveries, innovative research, best practices, new treatment protocols, and the exploration of regional challenges and successes in the field. A major topic of discussion was the addition of SCID to Newborn Screening programs worldwide.

The test for SCID utilizes the TREC Assay. It provides the earliest possible identification of this life threatening condition and allows for early intervention of bone marrow transplantation before infants suffer from severe infections, organ damage, and ultimately, death. While other methods are currently being developed, the TREC Assay has the specificity and the sensitivity to accurately identify affected newborns.

JMF Creates New Educational Materials

The Jeffrey Modell Foundation recently collaborated with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health to distribute our NEW Illustrated 10 Warning Signs Poster to more than 46,000 pediatricians in the U.S. Our Pediatrician Public Awareness Campaign is supported by Director of the NICHD, Dr. Alan Guttmacher, whose personal letter accompanied the poster.

The goal of the Campaign is to alert physicians and other healthcare professionals to the 10 Warning Signs of PI, so that affected children and adolescents receive early diagnosis and appropriate treatment

Shhh…tip-toe this way so I can share our educational materials with you! No need to search the aisles for desired reading.
  • Shhh…tip-toe this way so I can share our educational materials with you! No need to search the aisles for desired reading.
  • I’ve already taken the most important materials off the shelves! In fact, I've already checked out a copy of the 10 Warning Signs and Immune System Poster
  • to learn about your body’s defense system. I probably should have asked which language you prefer, since they are published in many languages.
  • I’m not only the Mayor, but also the librarian. If you need help, just ask! Until then, I’ll see you around the Village.