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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Aziza Bachir Kattra, Fatima Ailal, Ibtihal Benhsaien, Mohammed Fahi, Asmaa Drissi Bourhanbour, Ahamada Elamine, Zahra Aadam, Abderrahmane Errami, Ahmed Aziz Bousfiha, Jalila El Bakkouri
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2025-11-01
coleção:	Frontiers in Immunology
Assuntos:	major histocompatibility complex class II deficiency CIITA gene bare lymphocyte syndrome (BLS) lymphopenia CD4 HLA-DR expression consanguinity
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1707772/full
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!