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Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

Immunological reviews, 2015-03, Vol.264 (1), p.103-120

2015

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ISG15 deficiency and increased viral resistance in humans but not mice

Nature communications, 2016-05, Vol.7 (1), p.11496-11496, Article 11496

2016

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

Journal of clinical immunology, 2021-08, Vol.41 (6), p.1272-1290

2021

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Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Haematologica (Roma), 2015-06, Vol.100 (6), p.e216

2015

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Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

Proceedings of the National Academy of Sciences - PNAS, 2016-06, Vol.113 (24), p.6713-6718

2016

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Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

Journal of clinical immunology, 2012-08, Vol.32 (4), p.698-708

2012

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

The Journal of clinical investigation, 2003-08, Vol.112 (3), p.450-456

2003

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Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Cell, 2001-04, Vol.105 (2), p.177-186

2001

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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Cell, 2000-09, Vol.102 (5), p.565-575

2000

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Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

Journal of allergy and clinical immunology, 2013-11, Vol.132 (5), p.1156-1163.e5

2013

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A single‐center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class‐ Switch Recombination defects

Scandinavian journal of immunology, 2022-11, Vol.96 (5), p.e13213-n/a

2022

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Thirty years of primary immunodeficiencies in Turkey

Annals of the New York Academy of Sciences, 2011-11, Vol.1238 (1), p.15-23

2011

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Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens

Journal of allergy and clinical immunology, 2014-02, Vol.133 (2), p.AB94-AB94

2014

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Clinical spectrum of X-linked hyper-IgM syndrome

The Journal of pediatrics, 1997-07, Vol.131 (1), p.47-54

1997

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LAD-1/variant syndrome is caused by mutations in FERMT3

Blood, 2009-05, Vol.113 (19), p.4740-4746

2009

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Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.879-888.e2

2016

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Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome

Bone marrow transplantation (Basingstoke), 2018-03, Vol.53 (3), p.339-343

2018

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The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Journal of allergy and clinical immunology, 2015-08, Vol.136 (2), p.402-412

2015

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Hematologically important mutations: Leukocyte adhesion deficiency (first update)

Blood cells, molecules, & diseases, 2012-01, Vol.48 (1), p.53-61

2012

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A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

The Journal of experimental medicine, 2007-05, Vol.204 (5), p.1207-1216

2007

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B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy

Scandinavian journal of immunology, 2018-10, Vol.88 (4), p.e12709-n/a

2018

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DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

Journal of clinical immunology, 2015-02, Vol.35 (2), p.189-198

2015

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Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies

Journal of Immunology, 2007-02, Vol.178 (4), p.2556-2564

2007

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Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

ISG15 deficiency and increased viral resistance in humans but not mice

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

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication

Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

A single‐center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class‐ Switch Recombination defects

Thirty years of primary immunodeficiencies in Turkey

RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics

Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens

Clinical spectrum of X-linked hyper-IgM syndrome

LAD-1/variant syndrome is caused by mutations in FERMT3

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Hematologically important mutations: Leukocyte adhesion deficiency (first update)

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies

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