S. Rosenzweig

S. Holland, S. Rosenzweig, G. Uzel, 2002, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

561del4 defines a novel small deletion hotspot in the interferon-γ receptor 1 chain

S. Dorman, S. Rosenzweig, J. Roesler, 2002 .

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

M. Hernandez, J. Casanova, M. Temsah, 2020, Cell reports.

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease

M. Netea, S. Holland, S. Rosenzweig, 2017, Open forum infectious diseases.

Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations.

S. Rosenzweig, K. Voelkerding, Nour J Abdulhay, 2016, Blood.

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

I. Scheffer, D. Nickerson, M. Bamshad, 2022, Journal of Medical Genetics.

Tissue specific diversification, virulence and immune response to Mycobacterium bovis BCG in a patient with an IFN-γ R1 deficiency

H. Tettelin, S. Shallom, S. Holland, 2020, Virulence.

Macrophage defects

S. Holland, S. Rosenzweig, 2020, Stiehm's Immune Deficiencies.

Chapter 32 – Macrophage Defects

S. Holland, S. Rosenzweig, 2014 .

Decreased Lymphocytes and Increased Risk for Infection are Common in Endogenous Pediatric Cushing Syndrome

C. Stratakis, S. Rosenzweig, M. Lodish, 2017, Pediatric Research.

Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017

S. Rosenzweig, C. J. Nunes-Santos, 2018, Front. Immunol..

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

S. Holland, N. Young, S. Rosenzweig, 2015, Blood.

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.

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation

S. Rosenzweig, M. Tokita, M. Wright, 2021, Journal of Clinical Immunology.

Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A

J. Bonifacino, N. Zhang, M. Raffeld, 2022, Autophagy.

NADPH oxidase controls phagosomal pH and antigen cross-presentation in human dendritic cells.

S. Rosenzweig, F. Faure, O. Hermine, 2008, Blood.

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

B. Lambrecht, S. Rosenzweig, E. De Baere, 2017, Scientific Reports.

Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies

T. Fleisher, S. Rosenzweig, M. Madkaikar, 2016, The Indian Journal of Pediatrics.

Chronic granulomatous disease: complications and management

S. Rosenzweig, 2009, Expert review of 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.

Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

M. Newport, S. Dorman, J. Casanova, 2004, Lancet.

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

L. Notarangelo, J. Walter, H. Ochs, 2019, Front. Pediatr..

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

J. Mullikin, E. Remmers, D. Kastner, 2016, Proceedings of the National Academy of Sciences.

Ataxia telangiectasia associated with nodular regenerative hyperplasia

D. Kleiner, S. Rosenzweig, S. Lingala, 2016, Journal of Clinical Immunology.

Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs.

C. Thornburg, S. Rosenzweig, J. Ryu, 2016, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

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.

Old vaccines, new diseases: when BCG meets SPPL2a

S. Rosenzweig, 2018, Nature Immunology.

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

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

PI3K pathway defects leading to immunodeficiency and immune dysregulation

S. Rosenzweig, G. Uzel, C. J. Nunes-Santos, 2019, The Journal of allergy and clinical immunology.

Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions

S. Rosenzweig, A. King, A. Strickler, 2015, BMJ Case Reports.

A phase II study of ibrutinib and short‐course fludarabine in previously untreated patients with chronic lymphocytic leukemia

S. Pittaluga, T. Fleisher, S. Rosenzweig, 2020, American journal of hematology.

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID

L. Notarangelo, S. Rosenzweig, H. Kuehn, 2017, Journal of Clinical Immunology.

Gastrointestinal involvement in chronic granulomatous disease.

S. Holland, D. Kleiner, S. Rosenzweig, 2004, Pediatrics.

Genomic characterization of lymphomas in patients with inborn errors of immunity

B. Sander, C. Cunningham-Rundles, Likun Du, 2022, Blood advances.

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

F. Rieux-Laucat, S. Tangye, M. Haimel, 2021, Blood advances.

Characterization of a Dipeptide Motif Regulating IFN-γ Receptor 2 Plasma Membrane Accumulation and IFN-γ Responsiveness1

S. Holland, S. Rosenzweig, T. Leto, 2004, The Journal of Immunology.

g Membrane Accumulation and IFN-Receptor 2 Plasma g Regulating IFN-Characterization of a Dipeptide Motif

S. Rosenzweig, Thomas L. Leto, Margaret R. Brown, 2004 .

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.

J. Franco, W. Al-Herz, T. Morio, 2014, The Journal of allergy and clinical immunology.

A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation

L. Notarangelo, K. Dobbs, S. Rosenzweig, 2022, Journal of Clinical Immunology.

An update on gain-of-function mutations in primary immunodeficiency diseases

S. Rosenzweig, Rekha D. Jhamnani, 2017, Current opinion in allergy and clinical immunology.

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..

A Novel Mutation in IFN-γ Receptor 2 with Dominant Negative Activity: Biological Consequences of Homozygous and Heterozygous States1

S. Dorman, S. Holland, S. Rosenzweig, 2004, The Journal of Immunology.

Defects in the interferon‐γ and interleukin‐12 pathways

S. Holland, S. Rosenzweig, 2005, Immunological reviews.

561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain.

S. Dorman, S. Holland, S. Rosenzweig, 2002, Clinical immunology.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

W. C. Owen, M. Hafner, A. Šedivá, 2018, Annals of the rheumatic diseases.

TNF-inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).

J. Burnham, D. Kastner, S. Rosenzweig, 2021, The Journal of allergy and clinical immunology.

Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.

C. Klein, S. Rosenzweig, H. Kuehn, 2020, Journal of pediatric hematology/oncology.

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

S. Rosenzweig, A. Stray-Pedersen, D. Boutboul, 2019, The Journal of allergy and clinical immunology.

Penicillium piceum infection: diagnosis and successful treatment in chronic granulomatous disease.

S. Holland, S. Rosenzweig, Y. Shea, 2006, Medical mycology.

Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

B. Sloth, A. Joshi, S. Holland, 2017, Blood.

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2021, Journal of Clinical Immunology.

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2021, Journal of Clinical Immunology.

Intact IL-12 signaling is necessary for the generation of human natural killer cells with enhanced effector function after restimulation.

S. Holland, S. Rosenzweig, H. Kuehn, 2014, The Journal of allergy and clinical immunology.

Defects in Innate Immunity: Receptors and Signaling Components

S. Rosenzweig, N. Rezaei, J. Roesler, 2021, Reference Module in Biomedical Sciences.

CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System

M. Hernandez, T. Hohl, S. Rosenzweig, 2015, PLoS pathogens.

Progressive B Cell Loss in Revertant X-SCID

Timothy J Keyes, K. Davis, Astraea Jager, 2020, Journal of Clinical Immunology.

Use of Genetic Testing for Primary Immunodeficiency Patients

J. Orange, J. Chou, T. Torgerson, 2018, Journal of Clinical Immunology.

X‐linked carriers of chronic granulomatous disease: Illness, lyonization, and stability

S. Holland, S. Rosenzweig, D. Kuhns, 2018, The Journal of allergy and clinical immunology.

Inflammatory Manifestations in Chronic Granulomatous Disease (CGD)

S. Rosenzweig, 2008, Journal of Clinical Immunology.

Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

Smita Y. Patel, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

J. Casanova, A. Bousfiha, C. Picard, 2016, Blood.

Primary immunodeficiency diseases and Bacillus Calmette-Guérin (BCG)-vaccine-derived complications: a systematic review.

A. Gennery, S. Rosenzweig, N. Rezaei, 2020, The journal of allergy and clinical immunology. In practice.

Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.

S. Rosenzweig, N. Rezaei, A. Aghamohammadi, 2012, The Journal of infection.

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain‐of‐function mutations

Ivan K. Chinn, Matthew C. Altman, J. Orange, 2017, The Journal of allergy and clinical immunology.

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain‐of‐function mutation

Hao Wu, L. Notarangelo, T. Chatila, 2017, The Journal of allergy and clinical immunology.

Common severe infections in chronic granulomatous disease.

S. Holland, S. Rosenzweig, D. Kuhns, 2015, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Clinical and histopathological features and a unique spectrum of organisms significantly associated with chronic granulomatous disease osteomyelitis during childhood.

S. Rosenzweig, M. Oleastro, M. Zelazko, 2008, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

J. Mullikin, D. Kastner, Dan Yang, 2019, Nature.

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

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

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

E. Remmers, D. Kastner, J. O’Shea, 2002, Arthritis and rheumatism.

Activated STING in a vascular and pulmonary syndrome.

Ha Won Kim, J. Hughes, J. McElwee, 2014, The New England journal of medicine.

A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype

E. Meffre, T. Fleisher, S. Rosenzweig, 2014, Pediatric Rheumatology.

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.

Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology

S. Rosenzweig, J. Lyons, J. Milner, 2015, Front. Pediatr..

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects

S. Rosenzweig, C. J. Nunes-Santos, J. Bergerson, 2018, Front. Immunol..

Effective ‘ Activated PI 3 K δ Syndrome ’-targeted therapy with the PI 3 K δ inhibitor leniolisib Running head : Effective therapy of APDS by PI 3 K δ inhibitor leniolisib

B. Sloth, A. Joshi, S. Holland, 2017 .

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

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

Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report

H. Kong, S. Pittaluga, Tetsuro Kobayashi, 2020, Nature Medicine.

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

J. B. Oliveira, S. Rosenzweig, H. Kuehn, 2015, Journal of Clinical Immunology.

Germline hypomorphic CARD11 mutations in severe atopic disease

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

A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice

T. Andrews, S. Rosenzweig, L. Miosge, 2021, The Journal of Immunology.

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity

M. Varjosalo, S. Rosenzweig, N. Rezaei, 2021, Science Immunology.

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.

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

Kam Y. J. Zhang, J. Casanova, O. Ohara, 2021, Nature Immunology.

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.

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2020, Immunology and allergy clinics of North America.

IKAROS-associated diseases in primary immunodeficiency patients

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2020 .

Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience.

S. Holland, T. Fleisher, S. Rosenzweig, 2017, The Journal of allergy and clinical immunology.

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

A. Gennery, S. Rosenzweig, K. Voelkerding, 2018, Nature Communications.

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient

G. Fahle, W. Zein, S. Rosenzweig, 2019, F1000Research.

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

Phillip A. Richmond, A. Hoischen, J. Casanova, 2022, medRxiv.

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.

Bone Marrow Findings at Diagnosis in Patients with Multisystem Langerhans Cell Histiocytosis

S. Rosenzweig, J. Braier, D. Rosso, 2010, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

J. Mullikin, H. Kong, V. Pascual, 2014, The New England journal of medicine.

The expansion of human T-bethighCD21low B cells is T cell dependent

J. Casanova, M. Boerries, M. van der Burg, 2021, Science Immunology.

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.

Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation

Steven M. Holland, Robert D. Schreiber, Catherine Dargemont, 2001, Science.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

D. Adams, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

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..

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.

Laboratory evaluation of primary immunodeficiency disorders

T. Fleisher, S. Rosenzweig, L. Kobrynski, 2020 .

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.

Hepatitis A-associated macrophage activation syndrome in children with systemic juvenile idiopathic arthritis: report of 2 cases.

S. Rosenzweig, R. Russo, M. Katsicas, 2008, The Journal of rheumatology.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

L. Zon, Elliott J. Hagedorn, L. Notarangelo, 2017, The Journal of experimental medicine.

Neutrophil Functional Disorders

S. Rosenzweig, H. Malech, 2010 .

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

L. Notarangelo, R. Geha, J. Chou, 2019, The Journal of allergy and clinical immunology.

Longitudinal multi-omics analyses of the gut–liver axis reveals metabolic dysregulation in hepatitis C infection and cirrhosis

E. Levy, D. Kleiner, V. Periwal, 2022, Nature Microbiology.

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.

Clinical and Molecular Analysis of 49 Patients With X-linked Agammaglobulinemia From A Single Center in Argentina

S. Rosenzweig, J. Rossi, M. Oleastro, 2008, Journal of Clinical Immunology.

Successful immune reconstitution by means of hematopoietic stem cell transplantation in a Colombian patient with chronic granulomatous disease.

J. Franco, S. Rosenzweig, J. A. López, 2016, Biomedica : revista del Instituto Nacional de Salud.

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.

Bone Marrow Plasma Cells Are a Primary Source of Serum HIV-1–Specific Antibodies in Chronically Infected Individuals

T. Chun, A. Fauci, S. Rosenzweig, 2015, The Journal of 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.

Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension

V. Novack, S. Holland, E. Levy, 2018, Hepatology communications.

Ruxolitinib partially reverses functional NK cell deficiency in patients with STAT1 gain-of-function mutations

Ivan K. Chinn, Matthew C. Altman, J. Orange, 2017, bioRxiv.

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.

Severe SARS-CoV-2 disease in the context of a NF-κB2 loss-of-function pathogenic variant

O. Ramilo, A. Mejias, M. Ardura, 2020, Journal of Allergy and Clinical 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.

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

J. Casanova, J. Orange, S. Rosenzweig, 2015, Front. Pediatr..

Wiskott‐Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations

S. Rosenzweig, M. Oleastro, M. Zelazko, 2002, Human mutation.

Effective 'Activated PI3Kd Syndrome' -targeted therapy with PI3Kd inhibitor leniolisib

B. Sloth, A. Joshi, S. Holland, 2017 .

Bruton tyrosine kinase gene mutations in Argentina

S. Rosenzweig, M. Oleastro, M. Zelazko, 2003, Human mutation.

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

S. Pittaluga, E. Meffre, S. Hewitt, 2022, Nature Communications.

MUTATIONS IN THE TYROSINE-PROTEIN KINASE LYN CAUSE AN EARLY-ONSET NEUTROPHILIC VASCULITIS SYNDROME

E. Meffre, S. Hewitt, D. Kleiner, 2017 .

Defining a new immune deficiency syndrome: MAN2B2-CDG.

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

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

Ryan J. Carlson, S. Holland, S. Rosenzweig, 2017, 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.

Parathyroid Hormone Resistance and Autoantibodies to the PTH1 Receptor.

J. Chiorini, W. Simonds, S. Rosenzweig, 2021, New England Journal of Medicine.

Aire Inhibits the Generation of a Perinatal Population of Interleukin-17A-Producing γδ T Cells to Promote Immunologic Tolerance.

C. Benoist, D. Mathis, S. Rosenzweig, 2016, Immunity.

Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report

H. Kong, S. Pittaluga, Tetsuro Kobayashi, 2020, Nature Medicine.

Overview of Laboratory Studies for Evaluating Primary Immune Deficiency Disorders

T. Fleisher, S. Rosenzweig, 2014 .

Efficacy and Tolerability of an Argentine Intravenous Immunoglobulin in Pediatric Patients with Primary Immunodeficiency Diseases

S. Rosenzweig, M. Oleastro, A. Ornani, 2007, Journal of Clinical Immunology.

N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects

S. Rosenzweig, H. Kuehn, C. J. Nunes-Santos, 2020, Journal of Clinical Immunology.

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

S. Holland, S. Rosenzweig, E. Sampaio, 2019, Front. Immunol..

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

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

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.

S. Rosenzweig, H. Kuehn, Brigette Boast, 2022, Clinical and experimental immunology.

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.

A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease

S. Rosenzweig, S. Price, M. Lenardo, 2021, Journal of Clinical Immunology.

A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.

S. Rosenzweig, L. Bezrodnik, F. Haerynck, 2009, Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases.

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.

Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3

S. Rosenzweig, S. Nicholas, I. Chinn, 2021, Journal of clinical immunology.

A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease

S. Rosenzweig, S. Price, M. Lenardo, 2021, 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.

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference

S. Rosenzweig, L. Forbes, H. Kuehn, 2019, Journal of Clinical Immunology.

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient

G. Fahle, W. Zein, S. Rosenzweig, 2019, F1000Research.

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 .

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.

Pulmonary fungal infection diagnosis in chronic granulomatous disease patients

S. Rosenzweig, M. Oleastro, M. Zelazko, 2007, Pediatric Pulmonology.

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain.

J. Casanova, S. Holland, S. Rosenzweig, 2008, The Journal of pediatrics.

A novel internalization motif regulates human IFN‐γR1 endocytosis

S. Rosenzweig, Mohammed A. Sadat, A. Bernasconi, 2012, Journal of leukocyte biology.

Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents.

S. Holland, T. Torgerson, S. Rosenzweig, 2010, The Journal of allergy and 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.

Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

Smita Y. Patel, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

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.

NADPH oxidase controls phagosomal pH and antigen cross-presentation in human dendritic cells.

S. Rosenzweig, F. Faure, O. Hermine, 2008, Blood.

Recent Insights into the Pathobiology of Innate Immune Deficiencies

S. Holland, S. Rosenzweig, 2011, Current allergy and asthma reports.

A polymorphism in TIM1 is associated with susceptibility to severe hepatitis A virus infection in humans.

S. Rosenzweig, D. Umetsu, Silvina Kuperman, 2011, The Journal of clinical investigation.

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.

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

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

Use of Genetic Testing for Primary Immunodeficiency Patients

J. Orange, J. Chou, T. Torgerson, 2018, Journal of 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.

Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB

S. Rosenzweig, H. Kuehn, I. Aksentijevich, 2020, Journal of clinical immunology.

Successful immune reconstitution by means of hematopoietic stem cell transplantation in a Colombian patient with chronic granulomatous disease.

J. Franco, S. Rosenzweig, J. Franco, 2016, Biomedica : revista del Instituto Nacional de Salud.

Gastrointestinal involvement in chronic granulomatous disease.

S. Rosenzweig, V. Anderson, D. Darnell, 2004, Pediatrics.

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome

M. Fay, D. Follmann, C. Brewer, 2023, Journal of Clinical Investigation.

Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms: A case report

H. Kong, S. Pittaluga, Tetsuro Kobayashi, 2019, Nature medicine.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

D. Kastner, C. Biben, S. Rosenzweig, 2019, Nature.