Scientific Publications

Click below to read any of our current or past manuscripts that are regularly published in top-tier Immunology journals.

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):

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):

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:

2019 March 18

DOI:

doi: 10.3389/fped.2019.00070

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

Author(s):

Cossu, Fausto

Name:

Genetics of SCID

Publication Date:

2015 November 15

DOI:

doi: 10.1186/1824-7288-36-76

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):

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):

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):

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):

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):

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):

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

Name:

Consensus Recommendations for the use of Immunoglobulin Replacement Therapy in Immune Deficiency

Author(s):

APIIEG

Publication Date:

2009 July 20

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:

2009 January 13

DOI:

doi: 10.1007/s12026-008-8092-3

Name:

The Impact of Physician Education & Public Awareness on Early Diagnosis of Primary Immunodeficiency

Publication Date:

2007 June 26

DOI:

doi: 10.1007/s12026-007-0048-5

Name:

June 2007 IUIS PI Expert Committee Summary Report - Geha RS, et al

Publication Date:

2007 June 18

Name:

Immunology Today and New Discoveries: Building Upon Legacies of Dr. Robert A. Good

Publication Date:

2007 June 1

DOI:

doi: 10.1007/s12026-007-0049-4

Name:

Timeline of Discovery, Advances in Treatment, and Scientific Understanding of PI

Publication Date:

2006 April 24

Name:

Council for Harvard Medicine Keynote: December 8, 2005

Publication Date:

2005 December 8