ArticleCase reports in immunology2025
Major Histocompatibility Complex Class II Deficiency Beyond Infancy.
Article in Case reports in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Major histocompatibility complex class II deficiency in Morocco: a 26-year retrospective cohort study.Frontiers in immunology · 2026Article
- Clinical, immunological, treatment characteristics, and outcomes in 22 patients with major histocompatibility complex class II deficiency.Frontiers in immunology · 2026Article
- Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco.Frontiers in immunology · 2025Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Major histocompatibility complex class (MHC)-II deficiency is a rare autosomal recessive combined immunodeficiency, accounting for 4.1% of inborn errors of immunity (IEI) cases in North Africa and the Middle East. Most patients do not survive beyond the age of 10 years. The cases described in this study are rare and unusual for MHC-II deficiency. We report the cases of four unrelated patients of Moroccan origin with MHC-II deficiency. Immunophenotyping of lymphocyte subpopulations and analysis of human leukocyte antigen-DR (HLA-DR) expression were performed using flow cytometry. Genetic analysis was conducted through direct sequencing. The mean age of our patients was 18.75 years (range 16-26 years); the mean age at diagnosis was 14.07 years, and the mean age of onset of symptoms was 5.25 months. The clinical presentation is characterized by recurrent pulmonary infections with predominant bronchial dilatation and hemorrhagic rectocolitis. The diagnosis was confirmed in all patients by absence of HLA-DR expression and detection of the c.338-25_338del mutation in
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