List of works - Ahmed Aziz Bousfiha

A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis

scientific article published on 19 October 2020

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

A-Project : a Training Program from ASID.

scientific article

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

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.

scientific article published on 10 April 2018

An overview of risk factors in children with febrile seizures

scholarly article published in La Tunisie Medicale (published on 2024-3)

Autoimmune cytopenias in children: When to think of primary immunodeficiency?

scholarly article published in La Tunisie Medicale (published on 2024-1)

Bibliometric profil of medical publication at Faculty of Medicine of Casablanca (2008-2017)

scientific article published on 01 May 2019

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

scientific article published on 5 March 2014

Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience

scientific article published on 07 January 2021

Clinical and immunological profile of 15 Moroccan patients with Hyper IgM syndrome

scientific article published on 19 April 2017

Collaborating to improve quality of life in primary immunodeficiencies: World PI Week, 2013.

scientific article published on 11 July 2013

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 01 January 2020

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

scientific article

Diagnostic guidance for hereditary neutropenia in children: Narrative literature review.

scholarly article published in La Tunisie Medicale (published on 2023-7)

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

Effectiveness of natural immune protection against COVID-19 reinfection: systematic review with meta-analysis.

scholarly article published in La Tunisie Medicale (published on 2023-2)

Ensuring Access to Immunoglobulin Therapies for People with Primary Immunodeficiency: A Need to Improve Individuals' Quality of Life and the Sustainability of Health-care Systems

scientific article published on 19 September 2017

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families

scientific article published on 06 November 2019

Global systematic review of primary immunodeficiency registries

scientific article published on 28 July 2020

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity

scientific article published in 2022

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

scientific article

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 Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 17 January 2020

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

scientific article published on 05 December 2019

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

Human genetics of tuberculosis: a long and winding road

scientific article

Humoral immunodeficiency : awareness for better support

scientific article

Hyperimmunoglobulinemia E and hereditary immune deficiencies.

scholarly article published in La Tunisie Medicale (published on 2023-12)

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

scientific article published on 19 December 2018

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

scientific article (publication date: 13 April 2011)

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

scientific article published on March 2015

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

scientific article published on 11 December 2017

Learning difficulties of medicine. Perceptions and expectations of medical students in Morocco.

scholarly article published in La Tunisie Medicale (published on 2021)

Macrophage activation syndrome complicating family lymphohistiocytosis

scientific article published on 24 February 2017

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

scientific article

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

scientific article published on 07 July 2015

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

scientific article

Neonatal erythroderma: do not ignore an immune deficiency

scientific article published on 21 August 2014

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

scientific article published on 12 March 2019

Poikiloderma with Neutropenia in Morocco: a Report of Four Cases

scientific article published on 28 March 2017

Primary Immunodeficiencies: Epidemiology in the Maghreb

scientific article published on 01 October 2018

Primary Immunodeficiency Classification on Smartphone

scientific article

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

scientific article

Primary immunodeficiencies in highly consanguineous North African populations ⬇️

scientific article published on November 1, 2011

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

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

scientific article published in 2014

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

scientific article published on 8 November 2011

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

scientific article

Student's attitudes towards medical education in Arabic (Morocco 2020).

scholarly article published in La Tunisie Medicale (published on 2023-1)

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

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

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

scientific article published in 2022

The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population

scientific article published on 23 April 2010

The International Alliance of Primary Immune Deficiency Societies

scientific article published on 01 May 2018

Three new BLM gene mutations associated with Bloom syndrome

scientific article

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

scientific article published on 11 July 2016

When to suspect an immune deficiency in adults?

scholarly article published in La Tunisie Medicale (published on 2022-8)

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

scientific article published on 31 May 2016

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

scientific article published on March 2016

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world

scientific article published on 22 March 2019

List of works by Ahmed Aziz Bousfiha

A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis

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

A-Project : a Training Program from ASID.

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

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.

An overview of risk factors in children with febrile seizures

Autoimmune cytopenias in children: When to think of primary immunodeficiency?

Bibliometric profil of medical publication at Faculty of Medicine of Casablanca (2008-2017)

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

Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience

Clinical and immunological profile of 15 Moroccan patients with Hyper IgM syndrome

Collaborating to improve quality of life in primary immunodeficiencies: World PI Week, 2013.

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

Diagnostic guidance for hereditary neutropenia in children: Narrative literature review.

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.

Effectiveness of natural immune protection against COVID-19 reinfection: systematic review with meta-analysis.

Ensuring Access to Immunoglobulin Therapies for People with Primary Immunodeficiency: A Need to Improve Individuals' Quality of Life and the Sustainability of Health-care Systems

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families

Global systematic review of primary immunodeficiency registries

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

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 Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

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

Human genetics of tuberculosis: a long and winding road

Humoral immunodeficiency : awareness for better support

Hyperimmunoglobulinemia E and hereditary immune deficiencies.

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

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

Learning difficulties of medicine. Perceptions and expectations of medical students in Morocco.

Macrophage activation syndrome complicating family lymphohistiocytosis

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

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

Neonatal erythroderma: do not ignore an immune deficiency

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Poikiloderma with Neutropenia in Morocco: a Report of Four Cases

Primary Immunodeficiencies: Epidemiology in the Maghreb

Primary Immunodeficiency Classification on Smartphone

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

Primary immunodeficiencies in highly consanguineous North African populations ⬇️

Primary immunodeficiencies of protective immunity to primary infections

Primary immunodeficiency diseases worldwide: more common than generally thought

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

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

Student's attitudes towards medical education in Arabic (Morocco 2020).

T-cell defects in patients with germline mutations account for combined immunodeficiency

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population

The International Alliance of Primary Immune Deficiency Societies

Three new BLM gene mutations associated with Bloom syndrome

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

When to suspect an immune deficiency in adults?

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world