Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
Mohadese Sadat Mousavi KhorshidiYoann SeeleuthnerZahra ChavoshzadehMaryam BehfarAmir Ali HamidiehHosein AlimadadiRoya SherkatTooba MomenNasrin BehniafardShabnam EskandarzadehMahboubeh MansouriMahdiyeh BehnamMohadese MahdaviMaryam Heydarazad ZadehMehdi ShokriFatemeh AlizadehMahshid MovahediMana MomenilandiMohammad KeramatipourJean-Laurent CasanovaAurélie CobatLaurent AbelMohammad ShahrooeiNima ParvanehPublished in: Journal of clinical immunology (2023)
MHC-II deficiency is not rare in Iran, with a high rate of consanguinity. It should be considered in the differential diagnosis of CID at any age. With the limited access to HSCT and its variable results in MHC-II deficiency, implementing genetic counseling and family planning for the affected families are mandatory. We are better determined to study the c.162delG RFXANK heterozygous mutation frequency in the Iranian population.