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Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

The Journal of immunology (1950), 2021-07, Vol.207 (1), p.133-152

2021

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A novel mutation in the POLE2 gene causing combined immunodeficiency

Journal of allergy and clinical immunology, 2016-02, Vol.137 (2), p.635-638.e1

2016

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Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis

Blood Research, 2021, 56(2), , pp.86-101

2021

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Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care

Frontiers in immunology, 2017-06, Vol.8, p.678-678

2017

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Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation

Journal of allergy and clinical immunology, 2018-03, Vol.141 (3), p.1050-1059.e10

2018

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Early Introduction of Egg and the Development of Egg Allergy in Children: A Systematic Review and Meta-Analysis

International archives of allergy and immunology, 2018-01, Vol.177 (4), p.350-359

2018

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A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma

Journal of clinical immunology, 2020-08, Vol.40 (6), p.833-839

2020

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SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease

Journal of clinical immunology, 2021-10, Vol.41 (7), p.1507-1510

2021

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Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

Frontiers in immunology, 2018-02, Vol.9, p.203-203

2018

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A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report

Frontiers in immunology, 2024-02, Vol.15, p.1329610

2024

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Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

Journal of clinical immunology, 2020-11, Vol.40 (8), p.1103-1110

2020

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Early Egg Introduction to Infant Diet and Egg Allergy Prevention: Meta-Analysis of Randomized Controlled Trials

Journal of allergy and clinical immunology, 2019-02, Vol.143 (2), p.AB269-AB269

2019

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Clinical, Immunological, and Molecular Characterization of Hyper-IgM Syndrome Due to CD40 Deficiency in Eleven Patients

Journal of clinical immunology, 2013-11, Vol.33 (8), p.1325-1335

2013

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Hematopoietic stem cell transplantation corrects WIP deficiency

Journal of allergy and clinical immunology, 2017-03, Vol.139 (3), p.1039-1040.e4

2017

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Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery

Metabolites, 2019-11, Vol.9 (11), p.274

2019

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Exaggerated T Follicular Helper Cell Responses in LRBA Deficiency Due to Failure of CTLA4-Mediated Regulation

Journal of allergy and clinical immunology, 2017-06, Vol.141 (3), p.1050-1059.e10

2017

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Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience

Pediatric transplantation, 2015-09, Vol.19 (6), p.634-639

2015

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C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature Review

Journal of clinical immunology, 2013-05, Vol.33 (4), p.871-875

2013

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A case of de Barsy syndrome with a severe eye phenotype

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2364-2366

2012

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Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia

BMC medical genetics, 2009-11, Vol.10 (1), p.116-116, Article 116

2009

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The Spectrum of Primary Immunodeficiency Diseases in A Saudi Tertiary Care Hospital Over Two Years

Journal of allergy and clinical immunology, 2013-02, Vol.131 (2), p.AB156-AB156

2013

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Outcome of second allogenic stem cell transplantation in pediatric patients with non-malignant hematological and immune deficiency disorders

Pediatric blood & cancer, 2011-02, Vol.56 (2), p.289-293

2011

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Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform

Biosensors & bioelectronics, 2018-10, Vol.117, p.613-619

2018

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Ocular manifestations in chronic granulomatous disease in Saudi Arabia

Journal of AAPOS, 2009-08, Vol.13 (4), p.396-399

2009

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ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis

Journal of clinical immunology, 2023-10, Vol.43 (7), p.1529-1532

2023

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Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

A novel mutation in the POLE2 gene causing combined immunodeficiency

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis

Primary Immunodeficiency Diseases in Highly Consanguineous Populations from Middle East and North Africa: Epidemiology, Diagnosis, and Care

Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation

Early Introduction of Egg and the Development of Egg Allergy in Children: A Systematic Review and Meta-Analysis

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma

SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

Early Egg Introduction to Infant Diet and Egg Allergy Prevention: Meta-Analysis of Randomized Controlled Trials

Clinical, Immunological, and Molecular Characterization of Hyper-IgM Syndrome Due to CD40 Deficiency in Eleven Patients

Hematopoietic stem cell transplantation corrects WIP deficiency

Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery

Exaggerated T Follicular Helper Cell Responses in LRBA Deficiency Due to Failure of CTLA4-Mediated Regulation

Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience

C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature Review

A case of de Barsy syndrome with a severe eye phenotype

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia

The Spectrum of Primary Immunodeficiency Diseases in A Saudi Tertiary Care Hospital Over Two Years

Outcome of second allogenic stem cell transplantation in pediatric patients with non-malignant hematological and immune deficiency disorders

Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform

Ocular manifestations in chronic granulomatous disease in Saudi Arabia

ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis

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