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Open access Oct 2026

MHC-II deficiency in a large Algerian cohort: Clinical, immunological, and genetic characterization

This study characterizes the clinical, immunological, and genetic spectrum of MHC-II deficiency in the largest cohort reported to date. It identifies recurrent and novel variants and reveals genotype–phenotype differences.

Lydia Lamara Mahammed, Brahim Belaid, Ko-On-Wing Chan et al. · 0 citations
Open access Sep 2026

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

BACKGROUND Approximately 10% of patients with Severe Combined Immunodeficiency (SCID) phenotype lack a known genetic cause. In particular, the molecular basis of thymic defects is poorly understood. Homeobox (HOX) genes encode conserved transcription factors that control spatial body development. The function of human...

Sarah S. Dinges, M. Bosticardo, Anke Hirschfelder et al. · 0 citations

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