J. Niemela

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

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

J. Puck, Joie Davis, A. Hsu, 2011, Genetics in Medicine.

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

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

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)

T. Fleisher, S. Rosenzweig, H. Kuehn, 2016, Journal of Clinical Immunology.

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.

J. Orange, R. Geha, O. Levy, 2004, The Journal of allergy and clinical immunology.

Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations

L. Notarangelo, S. Rosenzweig, N. Pastor, 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..

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.

J. Orange, R. Deering, E. Gelfand, 2008, The Journal of allergy and clinical immunology.

Rapid publication Human nuclear factor kB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

Konrad, J. Orange, O. Levy, 2004 .

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.

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

J. Puck, T. Fleisher, A. Hsu, 2006, Molecular and cellular probes.

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.

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.

A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family

M. Raffeld, J. Stinson, A. Snow, 2018, Front. Immunol..

Effects of interleukin 2 therapy on lymphocyte magnesium levels.

S. Steinberg, S. Rosenberg, J. Cormier, 2002, The Journal of laboratory and clinical medicine.

Mononuclear Blood Cell Magnesium in Older Subjects: Evaluation of its use in Clinical Practice

J. Niemela, R. Elin, J. Hosseini, 1995, Annals of clinical biochemistry.

Magnesium (Mg) Retention and Mood Effects After Intravenous Mg Infusion in Premenstrual Dysphoric Disorder

D. Rubinow, D. Rosenstein, P. Schmidt, 2006, Biological Psychiatry.

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.

Andrew J. Oler, Yuan Zhang, S. Pittaluga, 2018, The Journal of allergy and clinical immunology.

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.

STAT5B: A Differential Regulator of the Life and Death of CD4+ Effector Memory T Cells

S. Pittaluga, S. Holland, M. Biancalana, 2018, The Journal of Immunology.

Defining a new immune deficiency syndrome: MAN2B2-CDG.

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

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

J. B. Oliveira, D. Kleiner, S. Rosenzweig, 2015, Journal of Clinical Immunology.

Comparison of precision and effect of pH and calcium on the AVL and NOVA magnesium ion-selective electrodes.

J. Niemela, R. Elin, S. Cecco, 1996, Scandinavian journal of clinical and laboratory investigation. Supplementum.

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

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

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

B. Lambrecht, S. Rosenzweig, H. Kuehn, 2017, Scientific Reports.

NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections

S. Rosenzweig, K. Thomas, M. Lionakis, 2023, RMD Open.

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

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

Clinical Spectrum of Autoimmune Lymphoproliferative Syndrome Associated with Caspase10 Mutations (ALPS-CASP10)

S. Rosenzweig, S. Price, J. Milner, 2016 .

Mutation analysis in primary immunodeficiency diseases: case studies

T. Fleisher, A. Hsu, J. Niemela, 2009, Current opinion in allergy and clinical immunology.

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.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

S. South, J. Casanova, W. Dolen, 2016, The New England journal of medicine.

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.

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Phillip A. Richmond, A. Hoischen, W. Wasserman, 2023, The Journal of experimental medicine.

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome.

S. Price, J. Niemela, J. Dale, 2010, The Journal of allergy and clinical immunology.

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.

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

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

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.

Andrew J. Oler, Yuan Zhang, S. Pittaluga, 2018, The Journal of allergy and clinical immunology.

Natural History Study of Patients with Familial Platelet Disorder with Myeloid Malignancy.

Paul Liu, K. Calvo, E. Cowen, 2023, Blood.

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Michael T. Zimmermann, Nikita R. Dsouza, N. Taylor, 2021, Blood.