Chronic granulomatous disease due to deficiency of NCF-1
OMIM:233700Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | NCF1 |
|---|---|
| Reference transcript | NM_000397.3 |
| DNA Change | c.75_76delGT |
| A.A. Change | |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA.Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds. J Clin Immunol. 2014 Mar 5. [Epub ahead of print] |