J. Stoddard

发表

Late-Onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1)

E. Jaffe, S. Pittaluga, H. Heslop, 2015, Journal of Clinical Immunology.

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

C. Cunningham-Rundles, W. Gahl, T. Fleisher, 2020, Blood.

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

J. Casanova, S. Choo, Joanne M. Smart, 2013, The Journal of experimental medicine.

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

M. Hegde, T. Chun, J. Justement, 2014, The New England journal of medicine.

Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8

S. Kummerfeld, S. Tangye, G. Uzel, 2021, Journal of clinical immunology.

Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis and rescue by IL-21.

W. Leonard, S. Holland, C. Stratakis, 2021, The Journal of allergy and clinical immunology.

Marked and persistent eosinophilia in the absence of clinical manifestations.

P. Khoury, A. Klion, J. Stoddard, 2014, The Journal of allergy and clinical immunology.

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.

M. Raffeld, S. Pittaluga, S. Rosenzweig, 2017, Blood.

KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities.

M. Fay, L. Scott, Weiming Fu, 2007, The Journal of allergy and clinical immunology.

Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorder

M. Raffeld, L. Xi, O. Simakova, 2015, Haematologica.

Skewed lymphocyte subpopulations and associated phenotypes in patients with mastocytosis.

S. Rosenzweig, J. Lyons, D. Metcalfe, 2019, The journal of allergy and clinical immunology. In practice.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

M. Snyder, D. Lewis, C. Stratakis, 2017, Blood.

A randomized, placebo-controlled, double-blind pilot study of single-dose humanized anti-IL5 antibody (reslizumab) for the reduction of eosinophilia following diethylcarbamazine treatment of Loa loa infection.

M. Fay, T. Nutman, A. Klion, 2020, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies

S. Pittaluga, L. Notarangelo, S. Rosenzweig, 2019, Front. Immunol..

Late-Onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1)

E. Jaffe, S. Pittaluga, H. Heslop, 2015, Journal of Clinical Immunology.

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.

J. Casanova, J. Ziegler, Joanne M. Smart, 2015, The Journal of allergy and clinical immunology.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

J. B. Oliveira, J. Hughes, J. McElwee, 2014, Science.

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

L. Notarangelo, D. Kastner, S. Rosenzweig, 2019, Front. Immunol..

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

J. B. Oliveira, S. Pittaluga, S. Holland, 2013, Nature Immunology.

Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

S. Pittaluga, S. Rosenzweig, M. Crank, 2014, Journal of Clinical Immunology.

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

S. Rosenzweig, J. Verbsky, J. Niemela, 2014, Journal of Clinical Immunology.

Germline hypomorphic CARD11 mutations in severe atopic disease

J. McElwee, Yuan Zhang, E. Meffre, 2017, Nature Genetics.

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

Ryan M. Baxter, T. Morio, T. Fleisher, 2021, The Journal of experimental medicine.

Dominant‐negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

A. Fischer, H. Kanegane, C. Picard, 2018, The Journal of clinical investigation.

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

D. Chaussabel, J. Casanova, A. Bousfiha, 2015, The Journal of experimental medicine.

Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects

Michael J. Davis, A. Adeyemo, F. Tekola-Ayele, 2017, Open forum infectious diseases.

IFNγR1 deficiency presenting with visceral leishmaniasis and Mycobacterium Avium infections mimicking HLH

S. Pittaluga, L. Notarangelo, S. Rosenzweig, 2021, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

Thomas A. Fleisher, Sergio D. Rosenzweig, T. Fleisher, 2014, Front. Immunol..

Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8

S. Kummerfeld, S. Tangye, G. Uzel, 2021, Journal of Clinical Immunology.

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development

Michael T. Zimmermann, Nikita R. Dsouza, L. Notarangelo, 2020, Journal of clinical immunology.

Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS)

S. Rosenzweig, S. Price, C. Vanpouille, 2019, Front. Immunol..

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India

S. Rosenzweig, M. Madkaikar, M. Desai, 2019, Front. Immunol..

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

U. Pannicke, K. Schwarz, J. Casanova, 2023, Science Immunology.

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

T. Fleisher, S. Rosenzweig, A. Puel, 2021, Journal of Clinical Immunology.

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

T. Fleisher, S. Rosenzweig, A. Puel, 2021, Journal of Clinical Immunology.

Patients with NK cell chronic active EBV have immature NK cells and hyperactivation of PI3K/Akt/mTOR and STAT1 pathways.

Eric O Long, S. Rosenzweig, A. Hsu, 2020, The Journal of infectious diseases.

SARS-CoV-2 Spike Protein-Directed Monoclonal Antibodies May Ameliorate COVID-19 Complications in APECED Patients

L. Notarangelo, S. Holland, S. Rosenzweig, 2021, Frontiers in Immunology.

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices.

L. Notarangelo, S. Holland, K. Dobbs, 2019, The Journal of allergy and clinical immunology.

Serological assignment of reported novel HLA-A and -B alleles

R. Hartzman, C. Hurley, J. Ng, 2002 .

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.

J. B. Oliveira, S. Pittaluga, T. Fleisher, 2013, Blood.

Defining a new immune deficiency syndrome: MAN2B2-CDG.

L. Notarangelo, K. Dobbs, L. Henderson, 2019, The Journal of allergy and clinical immunology.

Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies

Polina, Wong, Seyed, 2016 .

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

J. Casanova, S. Pittaluga, L. Notarangelo, 2023, Nature communications.

STAT3 gain-of-function mutation in an adult patient.

S. Rosenzweig, J. Niemela, J. Stoddard, 2021, Medicina.

Recurrent lymphadenitis in a female XIAP/BIRC4 mutation carrier with normal lyonization.

S. Rosenzweig, J. Milner, H. Kuehn, 2020, The journal of allergy and clinical immunology. In practice.

Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

S. Pittaluga, M. Crank, A. Agharahimi, 2014, Journal of Clinical Immunology.

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

J. Franco, C. Cunningham-Rundles, T. Fleisher, 2020, Journal of Clinical Immunology.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

M. Snyder, C. Stratakis, T. Fleisher, 2017, Blood.

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

Andrew J. Oler, S. Rosenzweig, E. Krüger, 2023, Frontiers in immunology.

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

M. Hegde, T. Chun, J. Justement, 2014, The New England journal of medicine.

Mulibrey nanism and immunological complications: a comprehensive case report and literature review

S. Rosenzweig, M. Bosticardo, J. Niemela, 2023, Frontiers in Immunology.

Immunogenetics associated with severe coccidioidomycosis

Andrew J. Oler, E. Karlins, J. Frelinger, 2022, JCI insight.

Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorder

M. Raffeld, L. Xi, O. Simakova, 2015, Haematologica.

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

K. Dobbs, B. Boisson, J. Toguchida, 2024, Nature immunology.