Aziz A. Bousfiha

Research Statement

AI generated · Oct 26, 2026

Aziz A. Bousfiha's indexed work centers on the IUIS phenotypical classification of human inborn errors of immunity, the diagnostic framework he has led as first author across successive updates in 2015, 2017, 2019, and 2022. These classification papers, several exceeding 500 citations, define how clinicians group primary immunodeficiencies by their presenting phenotype. A related strand examines protective immunity to primary infections in primary immunodeficiency, reflecting his interest in how immune defects manifest clinically, particularly in developing-country settings. Beyond the classification updates, he contributed as a middle author to the IUIS expert-committee reports and to work on heterozygous STAT1 gain-of-function mutations underlying a broad clinical phenotype, alongside Capucine Pïcard on autoantibodies neutralizing type I interferons and their contribution to severe COVID-19. No software, datasets, patents, or grants are indexed beyond these publications. Taken together, the record traces a sustained line of inquiry: building and refining the phenotypic taxonomy of inborn errors of immunity, then applying it to specific defects and infection susceptibility.

Most Cited Works

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Jérémy Manry, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Shohei Eto, Marina Garcia-Prat, Lucy Bizien, Alba Parra-Martínez, Rui Yang, Liis Haljasmägi, Mélanie Migaud, Karita Särekannu, Julia Maslovskaja, Nicolas de Prost, Yacine Tandjaoui-Lambiotte, Charles-Edouard Luyt, Blanca Amador-Borrero, Alexandre Gaudet, Julien Poissy, Pascal Morel, Pascale Richard, Fabrice Cognasse, Jesus Troya, Sophie Trouillet-Assant, Alexandre Belot, Kahina Saker, Pierre Garçon, Jacques G. Rivière

Research Areas

Immunodeficiency and Autoimmune DisorderT-cell and B-cell ImmunologyBlood disorders and treatmentsGenomics and Rare DiseasesAutoimmune and Inflammatory Disorders Re

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Sources

Research Statement

Most Cited Works

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Research Areas

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

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

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