Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco

Major histocompatibility complex class II (MHC II) deficiency (bare lymphocyte syndrome type II) is an autosomal-recessive combined immunodeficiency caused by pathogenic variants in the transcriptional regulators CIITA, RFXANK, RFX5, or RFXAP. While RFXANK founder mutations predominate in North Afri...

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Autori principali:	Aziza Bachir Kattra, Fatima Ailal, Ibtihal Benhsaien, Mohammed Fahi, Asmaa Drissi Bourhanbour, Ahamada Elamine, Zahra Aadam, Abderrahmane Errami, Ahmed Aziz Bousfiha, Jalila El Bakkouri
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2025-11-01
Serie:	Frontiers in Immunology
Soggetti:	major histocompatibility complex class II deficiency CIITA gene bare lymphocyte syndrome (BLS) lymphopenia CD4 HLA-DR expression consanguinity
Accesso online:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1707772/full
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