Major histocompatibility complex class II deficiency
OMIM:209920Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | RFXANK |
|---|---|
| Reference transcript | NM_003721.2 |
| DNA Change | c.338-25_338del26 |
| A.A. Change | |
| Exon/Intron | exon 6 |
| Mutation Type | deletion |
| Reference | Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, Hassar M, Saile R, Bousfiha AA.The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr. 2010 Sep;169(9):1069-74. |
| Gene Symbol | RFXAP |
|---|---|
| Reference transcript | NM_000538.3 |
| DNA Change | c.484delG |
| A.A. Change | p.S123fsX137 |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Villard J, Lisowska-Grospierre B, van den Elsen P, Fischer A, Reith W, Mach B.Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. N Engl J Med. 1997 Sep 11;337(11):748-53. |