Hassan Abolhassani

Genotype–phenotype analysis in 333 individuals with heterozygous variants in NFKB1

Heterozygous germline variants in NFKB1 can be classified into variants with “known protein defect” and “unknown protein effect.” However, beyond this, NFKB1 variants may be additionally categorized into at least eight distinct variant classes. We conducted a literature review of...

Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity

Abstract We previously reported inherited RORγT deficiency in seven patients from three ancestries (Chilean, Palestinian, Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afgh...