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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

Frontiers in immunology, 2024-08, Vol.15, p.1451212

2024

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Prompt Diagnosis of Autosomal Dominant Hyper IgE Syndrome Leads to Reduced Infection and Improved Clinical Phenotype

Journal of allergy and clinical immunology, 2015-02, Vol.135 (2), p.AB183-AB183

2015

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In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation

Haematologica (Roma), 2013-04, Vol.98 (4), p.e38-e39

2013

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CGDilemma: Fitting Together the Puzzle Pieces for Definitive Diagnosis

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109381, Article 109381

2023

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GATA2 at 10: Emergence of Genotype-Phenotye correlations

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109541, Article 109541

2023

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Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109577, Article 109577

2023

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Curious cases of GATA2 deficiency: clonal evolution or dual diagnoses?

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109483, Article 109483

2023

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Genomic Landscape of RUNX1-Familial Platelet Disorder with Myeloid Malignancies Reveals Rising Clonal Hematopoiesis

Blood, 2021-11, Vol.138 (Supplement 1), p.1090-1090

2021

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83 STAT3 Dominant Negative Disease: NIH Cohort

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.110025, Article 110025

2024

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Fr139 GASTROINTESTINAL DISEASE IN PATIENTS WITH FAMILIAL PLATELET DISORDER WITH ASSOCIATED MYELOID MALIGNANCY

Gastroenterology (New York, N.Y. 1943), 2021-05, Vol.160 (6), p.S-235-S-235

2021

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Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

Nature (London), 2008-04, Vol.452 (7188), p.773-776

2008

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Bone Marrow, Laboratory, and Clinical Features in Pediatric Patients with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)

Blood, 2023-11, Vol.142 (Supplement 1), p.4109-4109

2023

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Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations

Journal of allergy and clinical immunology, 2022-06, Vol.150 (4), p.947-954

2022

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42. Common Population Variants Cause Susceptibility to Disseminated Coccidioidomycosis

Open forum infectious diseases, 2020-12, Vol.7 (Supplement_1), p.S22-S23

2020

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Identifying modifier genes in Autoimmune Lymphoproliferative Syndrome (P4084)

The Journal of immunology (1950), 2013-05, Vol.190 (1_Supplement), p.51-51.8

2013

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Comprehensive RNAi-based screening of human and mouse TLR pathways identifies species-specific preferences in signaling protein use

The Journal of immunology (1950), 2016-05, Vol.196 (1_Supplement), p.203-203.22

2016

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Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease

Journal of allergy and clinical immunology, 2018-08, Vol.143 (4), p.1482-1495

2018

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2888. STAT4 Mutation in Three Generations with Disseminated Coccidioidomycosis (DCM) also Exhibits Increased Susceptibility to Coccidioidal Infection in Transfected Mice

Open forum infectious diseases, 2019-10, Vol.6 (Supplement_2), p.S77-S78

2019

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Gaucher disease and Parkinsonism: Clinical course and prognosis

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S62-S62

2015

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italic toggle="yes">Cryptococcus deuterogattii /italic> VGIIa Infection Associated with Travel to the Pacific Northwest Outbreak Region in an Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibody-Positive Patient in the United States

mBio, 2019-02, Vol.10 (1)

2019

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Expanding Spectrum of Malignancies in ALPS: A Cancer Predisposing Syndrome?

Blood, 2012-11, Vol.120 (21), p.2149-2149

2012

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Mycophenolate Mofetil and Thrombopoietin Receptor Agonists in the Treatment of Refractory Thrombocytopenia in Patients with Autoimmune Lymphoproliferative Syndrome

Blood, 2011-11, Vol.118 (21), p.2218-2218

2011

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Clinical Spectrum of RAS-Associated Autoimmune Leukoproliferative Disorder (RALD): A Distinct Clinical Entity Mimicking Juvenile Myelomonocytioc Leukemia (JMML) or Chronic Myelomonocytic Leukemia (CMML)

Blood, 2012-11, Vol.120 (21), p.1033-1033

2012

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Causes and Consequences of Splenectomy In ALPS-FAS

Blood, 2010-11, Vol.116 (21), p.3908-3908

2010

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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

Immunogenetics associated with severe coccidioidomycosis

Prompt Diagnosis of Autosomal Dominant Hyper IgE Syndrome Leads to Reduced Infection and Improved Clinical Phenotype

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation

CGDilemma: Fitting Together the Puzzle Pieces for Definitive Diagnosis

GATA2 at 10: Emergence of Genotype-Phenotye correlations

Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism

Curious cases of GATA2 deficiency: clonal evolution or dual diagnoses?

Genomic Landscape of RUNX1-Familial Platelet Disorder with Myeloid Malignancies Reveals Rising Clonal Hematopoiesis

83 STAT3 Dominant Negative Disease: NIH Cohort

Fr139 GASTROINTESTINAL DISEASE IN PATIENTS WITH FAMILIAL PLATELET DISORDER WITH ASSOCIATED MYELOID MALIGNANCY

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

Bone Marrow, Laboratory, and Clinical Features in Pediatric Patients with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)

Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations

42. Common Population Variants Cause Susceptibility to Disseminated Coccidioidomycosis

Identifying modifier genes in Autoimmune Lymphoproliferative Syndrome (P4084)

Comprehensive RNAi-based screening of human and mouse TLR pathways identifies species-specific preferences in signaling protein use

Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease

2888. STAT4 Mutation in Three Generations with Disseminated Coccidioidomycosis (DCM) also Exhibits Increased Susceptibility to Coccidioidal Infection in Transfected Mice

Gaucher disease and Parkinsonism: Clinical course and prognosis

italic toggle="yes">Cryptococcus deuterogattii /italic> VGIIa Infection Associated with Travel to the Pacific Northwest Outbreak Region in an Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibody-Positive Patient in the United States

Expanding Spectrum of Malignancies in ALPS: A Cancer Predisposing Syndrome?

Mycophenolate Mofetil and Thrombopoietin Receptor Agonists in the Treatment of Refractory Thrombocytopenia in Patients with Autoimmune Lymphoproliferative Syndrome

Clinical Spectrum of RAS-Associated Autoimmune Leukoproliferative Disorder (RALD): A Distinct Clinical Entity Mimicking Juvenile Myelomonocytioc Leukemia (JMML) or Chronic Myelomonocytic Leukemia (CMML)

Causes and Consequences of Splenectomy In ALPS-FAS

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