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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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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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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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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Genome Biology, 2015-06, Vol.16 (1), p.134-134, Article 134

2015

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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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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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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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Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

Blood, 2012-10, Vol.120 (17), p.3615-3624

2012

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Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home

Journal of clinical immunology, 2023-08, Vol.43 (6), p.1360-1366

2023

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Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia

Journal of clinical immunology, 2023-02, Vol.43 (2), p.479-484

2023

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Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013)

Journal of clinical immunology, 2015-10, Vol.35 (7), p.651-660

2015

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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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Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients

Journal of clinical immunology, 2013, Vol.33 (1), p.55-67

2013

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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 Is a Curative Therapy for Transferrin Receptor 1 (TFRC) Deficiency

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2021-02, Vol.9 (2), p.753-759.e2

2021

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Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation

Clinical immunology (Orlando, Fla.), 2017-05, Vol.178, p.39-44

2017

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Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

Journal of clinical immunology, 2017-08, Vol.37 (6), p.575-581

2017

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Graft Versus Host Disease Following HLA-Matched Sibling Donor Compared with Matched Related Donor for Hematopoietic Stem Cell Transplantation for the Treatment of Severe Combined Immunodeficiency Disease

Journal of clinical immunology, 2019-05, Vol.39 (4), p.414-420

2019

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Disseminated Cryptococcal Infection in Patient With Novel JAK3 Mutation Severe Combined Immunodeficiency, With Resolution After Stem Cell Transplantation

The Pediatric infectious disease journal, 2012-02, Vol.31 (2), p.204-206

2012

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Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Genome Biology, 2015-10, Vol.16 (1), p.226-226, Article 226

2015

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Hematopoietic stem cell transplant for hyper‐IgM syndrome due to CD 40L defects: A single‐center experience

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

2015

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Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST

Clinical immunology (Orlando, Fla.), 2012-04, Vol.143 (1), p.96-98

2012

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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

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

Hematopoietic stem cell transplantation corrects WIP deficiency

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

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

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

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

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

Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home

Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia

Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013)

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

Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients

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

Hematopoietic Stem Cell Transplantation Is a Curative Therapy for Transferrin Receptor 1 (TFRC) Deficiency

Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation

Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

Graft Versus Host Disease Following HLA-Matched Sibling Donor Compared with Matched Related Donor for Hematopoietic Stem Cell Transplantation for the Treatment of Severe Combined Immunodeficiency Disease

Disseminated Cryptococcal Infection in Patient With Novel JAK3 Mutation Severe Combined Immunodeficiency, With Resolution After Stem Cell Transplantation

Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Hematopoietic stem cell transplant for hyper‐IgM syndrome due to CD 40L defects: A single‐center experience

Successful outcome in two patients with CD40 deficiency treated with allogeneic HCST

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