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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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Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

The New England journal of medicine, 2009-01, Vol.360 (5), p.447-458

2009

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Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector

The Lancet (British edition), 2004-12, Vol.364 (9452), p.2181-2187

2004

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Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

The Journal of experimental medicine, 2007-10, Vol.204 (10), p.2407-2422

2007

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Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency

Nature genetics, 2003-03, Vol.33 (3), p.388-391

2003

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A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

Human mutation, 2017-10, Vol.38 (10), p.1355-1359

2017

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Mutations of CD40 Gene Cause an Autosomal Recessive Form of Immunodeficiency with Hyper IgM

Proceedings of the National Academy of Sciences - PNAS, 2001-10, Vol.98 (22), p.12614-12619

2001

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Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds

American journal of human genetics, 2002-02, Vol.70 (2), p.336-348

2002

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Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis

Journal of allergy and clinical immunology, 2013-10, Vol.132 (4), p.993-996

2013

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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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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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Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

Annals of Saudi medicine, 2009-07, Vol.29 (4), p.309-312

2009

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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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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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Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

Medicine (Baltimore), 2010-11, Vol.89 (6), p.381-402

2010

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Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

Medicine (Baltimore), 2010-11, Vol.89 (6), p.403-425

2010

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Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries

Medicine (Baltimore), 2010-11, Vol.89 (6), p.381-402

2010

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Pyogenic Bacterial Infections in Humans with IRAK-4 Deficiency

Science (American Association for the Advancement of Science), 2003-03, Vol.299 (5615), p.2076-2079

2003

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

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Mutations of CD40 Gene Cause an Autosomal Recessive Form of Immunodeficiency with Hyper IgM

Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds

Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis

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

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

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

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

Ocular manifestations in chronic granulomatous disease in Saudi Arabia

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

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

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries

Pyogenic Bacterial Infections in Humans with IRAK-4 Deficiency

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

Hematopoietic stem cell transplantation corrects WIP deficiency

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

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