List of works - Fatima Ailal

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

scientific article

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

scientific article

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

scientific article published on 01 June 2018

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

scientific article published on 14 December 2016

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds

scientific article published on 5 March 2014

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

scientific article published on 20 August 2018

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

scientific article published on 19 September 2016

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

scientific article published on 01 May 2020

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

scientific article published on 01 January 2020

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

scientific article published on 03 December 2020

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

scientific article

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

scientific article published on 19 December 2018

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

scientific article published on March 2015

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

scientific article

Primary immunodeficiencies of protective immunity to primary infections

scientific article published on 16 March 2010

Primary immunodeficiency diseases worldwide: more common than generally thought

scientific article

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

scientific article published on 11 December 2017

List of works by Fatima Ailal

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

Primary immunodeficiencies of protective immunity to primary infections

Primary immunodeficiency diseases worldwide: more common than generally thought

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies