G. Uzel

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

The new england journal of medicine Combined Immunodeficiency Associated with DOCK 8 Mutations

S. Holland, Joie Davis, M. Turner, 2009 .

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

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

High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease.

S. Targan, C. Cunningham-Rundles, S. Holland, 2011, Clinical immunology.

Signaling role for Mg2+ revealed by immunodeficiency due to loss of MagT1

D. Douek, G. Uzel, M. Lenardo, 2011, Nature.

94 – Cytokine therapy

G. Illei, G. Uzel, J. Steinke, 2008 .

Key pathways in primary immune deficiencies

G. Uzel, E. Hanson, S. Hambleton, 2020 .

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD—the Goldilocks’ Effect

S. Tangye, G. Uzel, E. Deenick, 2019, Journal of Clinical Immunology.

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56 subset

J. Orange, S. Holland, E. Frenkel, 2013 .

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

J. Orange, S. Holland, E. Frenkel, 2013, 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.

Human T follicular helper cells in primary immunodeficiencies

S. Tangye, G. Uzel, Cindy S. Ma, 2014, Current opinion in pediatrics.

Leptin replacement therapy modulates circulating lymphocyte subsets and cytokine responsiveness in severe lipodystrophy.

S. Holland, G. Uzel, P. Gorden, 2006, The Journal of clinical endocrinology and metabolism.

Mapping Out Autoimmunity Control in Primary Immune Regulatory Disorders.

G. Uzel, J. Farmer, Jocelyn R. Farmer, 2020, The journal of allergy and clinical immunology. In practice.

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

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

STAT3 mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8 + T cell memory formation and function

S. Choo, Joanne M. Smart, C. Picard, 2013 .

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency

S. Tangye, O. Sanal, I. Tezcan, 2021, Journal of Clinical Immunology.

Rapid activation receptor- or IL-2-induced lytic granule convergence in human natural killer cells requires Src, but not downstream signaling.

J. Orange, G. Uzel, E. Mace, 2013, Blood.

human natural killer cells requires Src, but not downstream signaling induced lytic granule convergence in - or IL-2 - Rapid activation receptor

J. Orange, G. Uzel, E. Mace, 2013 .

Mutations in PI3K110&dgr; cause impaired natural killer cell function partially rescued by rapamycin treatment

Ivan K. Chinn, J. Lupski, R. Gibbs, 2018, The Journal of allergy and clinical immunology.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Smita Y. Patel, R. Döffinger, J. Casanova, 2017, Blood.

Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey

M. Raffeld, S. Pittaluga, S. Holland, 2015, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Dominant gain-of-function STAT1 mutations in FOXP3 WT IPEX-like Syndrome

Anahita, J. Yim, S. Holland, 2013 .

IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2

J. Sprent, W. E. Hughes, G. Uzel, 2017, Nature Communications.

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.

L. Notarangelo, S. Choo, Joanne M. Smart, 2019, The Journal of allergy and clinical immunology.

Activating mutations in PIK3CD and murine CD4 + T cells

L. Notarangelo, S. Choo, Joanne M. Smart, 2019 .

Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells

J. Casanova, A. Bousfiha, S. Tangye, 2022, Science Immunology.

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

J. Orange, J. Church, M. Deardorff, 2011, Front. Immun..

Blood Spotlight XMEN disease: a new primary immunodeficiency affecting Mg regulation of immunity against Epstein-Barr virus

G. Uzel, M. Lenardo, B. Chaigne-Delalande, 2014 .

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

L. Notarangelo, S. Choo, Joanne M. Smart, 2019, The Journal of experimental medicine.

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.

Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2

R. Nussenblatt, G. Uzel, H. Sen, 2010, Ophthalmic genetics.

Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency

C. Kunder, D. Lewis, G. Uzel, 2020, Journal of Clinical Immunology.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients inactivating mutations in DOCK8 cause a combined immunodeficiency characterized by severe pathogen infections,

J. Casanova, J. Ziegler, S. Choo, 2019 .

Nodular regenerative hyperplasia in X-linked agammaglobulinemia: an underestimated and severe complication.

S. Holland, D. Kleiner, G. Uzel, 2021, The Journal of allergy and clinical immunology.

Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK

J. B. Oliveira, J. Orange, Chi A. Ma, 2013, Proceedings of the National Academy of Sciences.

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

S. Pittaluga, S. Holland, J. Puck, 2017, The Journal of allergy and clinical immunology.

Dedicator of cytokinesis 8–deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells

J. Casanova, J. Orange, J. Ziegler, 2017, The Journal of allergy and clinical immunology.

DOCK 8-Deficient CD 4 + T Cells are Biased to a Th 2 Effector Fate at the Expense of Th 1 and Th 17 Cells

J. Ziegler, Joanne M. Smart, S. Tangye, 2016 .

Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease

Smita Y. Patel, R. Sadler, B. Ferry, 2014, Journal of Clinical Immunology.

Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

S. Holland, E. Major, A. Nath, 2016, 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..

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.

Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways

G. Uzel, Qingxue Li, Kennichi C. Dowdell, 2020 .

STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.

Timothy J. Peters, S. Mustjoki, S. Tangye, 2022, Immunity.

Somatic reversion in DOCK8 immunodeficiency modulates disease phenotype

D. Lewis, Y. Zhang, R. Geha, 2014 .

Prospective study of a novel, radiation-free, reduced-intensity bone marrow transplantation platform for primary immunodeficiency diseases.

Stephanie N. Hicks, Thomas E. Hughes, S. Steinberg, 2020, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Gastrointestinal Fistulae in Chronic Granulomatous Disease

S. Holland, G. Uzel, T. Heller, 2009, The American Journal of Gastroenterology.

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis.

S. Pittaluga, S. Holland, P. Valdez, 2011, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

S. Holland, D. Kuhns, G. Uzel, 2016, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

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

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

Analysis of Adhesion Molecules, Target Cells, and Role of IL-2 in Human FOXP3+ Regulatory T Cell Suppressor Function1

S. Holland, D. Glass, E. Shevach, 2009, The Journal of Immunology.

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

D. Douek, G. Uzel, M. Lenardo, 2011, Nature.

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

B. Lambrecht, A. Fischer, E. López-Granados, 2020, Journal of Allergy and Clinical Immunology.

Pyoderma gangrenosum-like ulcer in a patient with X-linked agammaglobulinemia: identification of Helicobacter bilis by mass spectrometry analysis.

D. Ecker, R. Sampath, P. Murray, 2010, Archives of Dermatology.

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Adeline R. Whitney, Smita Y. Patel, Steven M Holland, 2010, Blood.

Stamping out Staphylococcus.

K. Sullivan, G. Uzel, H. Lederman, 2004, 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.

Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1.

L. Notarangelo, S. Holland, G. Uzel, 2017, The New England journal of medicine.

Corticosteroid therapy for liver abscess in chronic granulomatous disease.

S. Holland, A. Venkatesan, G. Uzel, 2012, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

STAT3 mutations in the hyper-IgE syndrome.

Bodo Grimbacher, Alejandro A Schäffer, Adeline R. Whitney, 2007, The New England journal of medicine.

21 – Phagocyte deficiencies

S. Holland, G. Uzel, 2008 .

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.

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

S. Holland, E. Sampaio, A. Hsu, 2012, Journal of Clinical Immunology.

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

A. Schäffer, A. Schambach, P. Robinson, 2013, The Journal of experimental medicine.

The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease

S. Holland, D. Kuhns, G. Uzel, 2018, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

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.

Residual NADPH oxidase and survival in chronic granulomatous disease.

S. Holland, W. Alvord, B. Soule, 2010, The New England journal of medicine.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

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

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

J. Orange, S. Holland, C. Brewer, 2014, Blood.

HEMATOPOIESIS AND STEM CELLS GATA 2 de fi ciency : a protean disorder of hematopoiesis , lymphatics , and immunity

J. Orange, S. Holland, C. Brewer, 2014 .

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

J. Casanova, J. Ziegler, S. Choo, 2019, JCI insight.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8 2

J. Casanova, J. Ziegler, S. Choo, 2019 .

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK 8-deficient patients

J. Casanova, J. Ziegler, S. Choo, 2019 .

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.

Vanessa A Mackley, S. Lockett, J. Orange, 2016, Blood.

Defective Neutrophil Recruitment in Leukocyte Adhesion Deficiency Type I Disease Causes Local IL-17–Driven Inflammatory Bone Loss

S. Holland, C. Zenobia, G. Uzel, 2014, Science Translational Medicine.

Hematologically important mutations: leukocyte adhesion deficiency (first update).

A. Fischer, S. Holland, T. Kuijpers, 2012, Blood cells, molecules & diseases.

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.

Vanessa A Mackley, S. Lockett, J. Orange, 2016, Blood.

Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1.

J. Torres, G. Uzel, Yan Li, 2015, Blood cells, molecules & diseases.

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.

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

A. Schulz, L. Notarangelo, A. Gennery, 2021, The Journal of allergy and clinical immunology.

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD—the Goldilocks’ Effect

S. Tangye, G. Uzel, E. Deenick, 2019, Journal of Clinical Immunology.

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

Andrea J. Radtke, S. Pittaluga, R. Germain, 2018, Nature Immunology.

Germline-activating mutations in PIK3CD compromise B cell development and function

W. Shi, S. Choo, S. Holland, 2018, The Journal of experimental medicine.

6-year-old boy with recurrent sinopulmonary infections and lymphadenopathy.

G. Uzel, M. Lawrence, 2015, The journal of allergy and clinical immunology. In practice.

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

J. Casanova, J. Ziegler, Joanne M. Smart, 2013, Blood.

Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis.

J. Orange, S. Holland, N. Poliak, 2010, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

A custom 148 gene‐based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

S. Chanock, M. Yeager, J. Orange, 2010, Human mutation.

Correction: Subgingival Microbial Communities in Leukocyte Adhesion Deficiency and Their Relationship with Local Immunopathology

P. Munson, S. Holland, B. Paster, 2015, PLoS pathogens.

Subgingival Microbial Communities in Leukocyte Adhesion Deficiency and Their Relationship with Local Immunopathology

P. Munson, S. Holland, B. Paster, 2015, PLoS pathogens.

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Smita Y. Patel, Steven M Holland, M. Raffeld, 2011, Blood.

Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes.

G. Uzel, D. Buchbinder, D. Nugent, 2017, Journal of pediatric hematology/oncology.

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity

S. Choo, S. Holland, S. Tangye, 2019, The Journal of allergy and clinical immunology.

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

M. Raffeld, S. Pittaluga, S. Holland, 2015, Journal of Clinical Immunology.

Corticosteroids in the treatment of severe nocardia pneumonia in chronic granulomatous disease.

S. Holland, G. Uzel, A. Freeman, 2011, The Pediatric infectious disease journal.

PI3Kδ coordinates transcriptional, chromatin, and metabolic changes to promote effector CD8+ T cells at the expense of central memory

J. O’Shea, G. Uzel, J. Cannons, 2021, Cell reports.

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.

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

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

Overactive STAT3 drives accumulation of disease-associated CD21low B cells

Timothy J. Peters, S. Mustjoki, S. Tangye, 2021, bioRxiv.

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

L. Notarangelo, J. Walter, J. Puck, 2020, Frontiers in Immunology.

First-in-human topical microbiome transplantation with Roseomonas mucosa for atopic dermatitis.

G. Uzel, L. Barnhart, S. Datta, 2018, JCI insight.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

J. B. Oliveira, R. Gelman, L. Notarangelo, 2015, The Journal of clinical investigation.

Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations

S. Pittaluga, S. Holland, M. Turner, 2010, Pediatrics.

Dysfunctional LAD-1 neutrophils and colitis.

S. Holland, D. Kleiner, D. Kuhns, 2001, Gastroenterology.

STAT3 is a central regulator of lymphocyte differentiation and function.

S. Tangye, G. Uzel, M. Cook, 2014, Current opinion in immunology.

Identification of Pseudomonas aeruginosa DNA in a chorioretinal lesion associated with chronic granulomatous disease

S. Holland, G. Uzel, S. Yeh, 2008, Journal of Clinical Pathology.

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

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

Outcome of patients with NEMO deficiency following allogeneic hematopoietic cell transplant.

S. Holland, G. Uzel, K. Shah, 2017, The Journal of allergy and clinical immunology.

X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.

G. Uzel, A. Mancini, L. Lawley, 2008, Archives of dermatology.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

J. B. Oliveira, R. Gelman, L. Notarangelo, 2016, The Journal of clinical investigation.

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Carol J. Saunders, J. Casanova, C. Saunders, 2021, The Journal of experimental medicine.

Self-reactive VH4-34–expressing IgG B cells recognize commensal bacteria

J. Casanova, C. Picard, S. Holland, 2017, The Journal of experimental medicine.

Management of Cytopenias in CTLA4 Haploinsufficiency Using Abatacept and Sirolimus

S. Holland, G. Uzel, A. Agharahimi, 2018, Blood.

A conserved mechanism of TOR-dependent RCK-mediated mRNA degradation regulates autophagy

T. Myers, D. Klionsky, G. Uzel, 2015, Nature Cell Biology.

Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome.

L. Dodd, S. Holland, A. Hsu, 2011, The Journal of allergy and clinical immunology.

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets

J. Casanova, J. Ziegler, A. Bousfiha, 2016, The Journal of experimental medicine.

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.

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

J. Casanova, Joanne M. Smart, C. Picard, 2015, The Journal of experimental medicine.

STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological dysregulation of NKG2Dhi CD8 killer T cells

Timothy J. Peters, S. Mustjoki, S. Tangye, 2022, bioRxiv.

Detection of intracellular phosphorylated STAT-4 by flow cytometry.

S. Holland, T. Fleisher, G. Uzel, 2001, Clinical immunology.

PERSISTENT MYCOBACTERIUM AVIUM INFECTION FOLLOWING NON - MYELOABLATIVE ALLOGENEIC PERIPHERAL BLOOD STEM CELL TRANSPLANTATION FOR INTERFERON -

S. Holland, G. Uzel, H. Malech, 2003 .

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.

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

S. Holland, A. Hsu, G. Uzel, 2016, The Journal of allergy and clinical immunology.

Persistent nodal histoplasmosis in NF- κ B essential modulator (NEMO) deficiency: Report of a case and review of infection in primary immunodeficiencies

S. Holland, A. Hsu, G. Uzel, 2017 .

Liver disturbances in activated phosphoinositide 3-kinase δ syndrome.

S. Pittaluga, S. Holland, D. Kleiner, 2018, The journal of allergy and clinical immunology. In practice.

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

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

Recurrent Nodular Regenerative Hyperplasia Following Liver Transplantation in Common Variable Immunodeficiency

S. Holland, D. Kleiner, G. Uzel, 2021, Hepatology.

Detection and Characterization of the T-Cell Receptor Repertoire

G. Uzel, 2008 .

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

David R. Croucher, David E. James, D. Croucher, 2023, The Journal of experimental medicine.

Tor-dependent post-transcriptional regulation of autophagy: Implications for cancer therapeutics

T. Myers, D. Klionsky, G. Uzel, 2016, Molecular & cellular oncology.

White blood cell defects: Molecular discoveries and clinical management

S. Holland, G. Uzel, 2002, Current allergy and asthma reports.

TOR-dependent post-transcriptional regulation of autophagy

T. Myers, D. Klionsky, G. Uzel, 2015, Autophagy.

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

J. Casanova, S. Choo, Joanne M. Smart, 2013, The Journal of allergy and clinical immunology.

Th1 T-cell and monocyte defects.

S. Holland, G. Uzel, 2000, Pediatric clinics of North America.

The range of defects associated with nuclear factor kappaB essential modulator.

G. Uzel, 2005, Current opinion in allergy and clinical immunology.

That fish (NEMO) again

G. Uzel, 2006 .

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

V. Lougaris, A. Plebani, A. Šedivá, 2022, Blood.

STAT3 regulates cytotoxicity of human CD57+ CD4+ T cells in blood and lymphoid follicles

Susan M. Corley, M. Wilkins, S. Tangye, 2018, Scientific Reports.

DOCK8-Deficient CD4(+) T Cells are Biased to a Th2 Effector Fate at the Expense of Th1 and Th17 Cells.

J. Casanova, J. Orange, J. Ziegler, 2016 .

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

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

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Kyle W. Binder, M. Mann, S. Pittaluga, 2019, The Journal of clinical investigation.

Safety and Efficacy of Long Term Suppression of PI3Kinase Pathway By Small Molecule PI3K-Delta Inhibitor, Leniolisib in Apds (Activated PI3Kδ Syndrome)

B. Sloth, A. Šedivá, L. Folio, 2018, Blood.

Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder.

D. Reich, S. Pittaluga, G. Uzel, 2020, The Journal of clinical investigation.

Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype

S. Tangye, G. Uzel, B. Wood, 2019, Journal of Clinical Immunology.

Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia (XMEN)

T. Kuijpers, G. Uzel, M. Lenardo, 2014, European Journal of Human Genetics.

Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered

G. Uzel, J. Cohen, J. Rose, 2018, Journal of Clinical Immunology.

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

S. Holland, E. Sampaio, A. Hsu, 2012, Journal of Clinical Immunology.

The range of defects associated with nuclear factor κB essential modulator

G. Uzel, 2005 .

Streptococcal Infections in Patients with Chronic Granulomatous Disease: Case Report and Review of the Literature

S. Holland, G. Uzel, A. Zelazny, 2012, Journal of Clinical Immunology.

Angiosarcoma in Long-Standing Nodular Regenerative Hyperplasia.

D. Kleiner, G. Uzel, C. Koh, 2022, ACG case reports journal.

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Smita Y. Patel, M. Raffeld, S. Pittaluga, 2011, Blood.

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

J. Yim, S. Holland, T. Torgerson, 2013, The Journal of allergy and clinical immunology.

Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies

D. Kuhns, G. Uzel, C. Zerbe, 2023, Science advances.

GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

R. Lifton, I. Tezcan, D. Schwefel, 2024, Nature immunology.

Development of hepatic fibrosis in common variable immunodeficiency-related porto-sinusoidal vascular disorder.

G. Uzel, Anusha Vittal, J. Hercun, 2024, Alimentary pharmacology & therapeutics.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

J. B. Oliveira, R. Gelman, L. Notarangelo, 2016, The Journal of clinical investigation.

BTK drives neutrophil activation for sterilizing antifungal immunity

G. Uzel, M. Lionakis, Jigar V. Desai, 2024, The Journal of clinical investigation.

Human T cell activation induces the expression of a novel CD45 isoform that is analogous to murine B220 and is associated with altered O-glycan synthesis and onset of apoptosis.

T. Fleisher, G. Uzel, J. Bleesing, 2001, Cellular immunology.