List of works - Pegah Ghandil

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4

scientific article

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4

scientific article published on 17 July 2020

A polymorphism in the CCL2 chemokine gene is associated with asthma risk: a case-control and a family study in Tunisia

scientific article published on 10 July 2008

Allele frequencies of two polymorphisms associated with the factor IX gene in Iranian population

scientific article published in January 2004

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

scientific article

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome

scientific article published on 04 August 2018

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

scientific article published on 2 March 2018

Crohn’s disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes

Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes.

scientific article published in April 2004

Genome-wide Innate Immune Responsiveness Profiles of Patients with Inborn Errors of Toll-like Receptor Signaling

scholarly article by Laia Alsina et al published January 2010 in Clinical Immunology

Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease

scientific article published on 23 October 2020

Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI

scientific article published on 19 April 2019

Identification of the PRM1 gene mutations in oligoasthenoteratozoospermic men

scientific article published on 28 October 2020

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

scientific article published on July 2008

PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits

scientific article published on 01 February 2007

Pyogenic bacterial infections in humans with MyD88 deficiency

scientific article

The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes

scientific article published on 31 August 2020

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.

scientific article

List of works by Pegah Ghandil

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4

A polymorphism in the CCL2 chemokine gene is associated with asthma risk: a case-control and a family study in Tunisia

Allele frequencies of two polymorphisms associated with the factor IX gene in Iranian population

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

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Crohn’s disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes

Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes.

Genome-wide Innate Immune Responsiveness Profiles of Patients with Inborn Errors of Toll-like Receptor Signaling

Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease

Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI

Identification of the PRM1 gene mutations in oligoasthenoteratozoospermic men

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits

Pyogenic bacterial infections in humans with MyD88 deficiency

The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.