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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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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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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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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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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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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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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

Volltextzugriff (PDF)

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis

Blood research, 2021-06, p.86-101

2021

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Early Introduction of Egg and Development of Egg Allergy

International archives of allergy and immunology, 2019-03, Vol.178 (3), p.279-280

2019

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A homozygous truncating mutation of FGL2 is associated with immune dysregulation

Journal of allergy and clinical immunology, 2023-02, Vol.151 (2), p.572-578.e1

2023

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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

Journal of allergy and clinical immunology, 2016-06, Vol.137 (6), p.1780-1787

2016

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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

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

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

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

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

Ocular manifestations in chronic granulomatous disease in Saudi Arabia

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

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis

Early Introduction of Egg and Development of Egg Allergy

A homozygous truncating mutation of FGL2 is associated with immune dysregulation

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

Improved transplant survival and long-term disease outcome in children with MHC class II deficiency

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