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.· Journal of human immunity· 0 citations
This study characterizes RAG1/RAG2 deficiency, a severe inherited immune disorder, in the largest reported cohort from a North African country. Two founder mutations explain most cases, yet limited transplant access drives high mortality, highlighting the need for newborn screening.
Brahim Belaid, Ko-On-Wing Chan, J. Stoddard et al.· Journal of human immunity· 0 citations
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.· Journal of Allergy and Clini...· 0 citations
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