Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Chronic granulomatous disease due to deficiency of NCF-2

OMIM:608515
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolNCF2
Reference transcriptNM_000397.3
DNA Changec.257+1G>A
A.A. Change
Exon/Intron
Mutation Typesubstitution
ReferenceBaba 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]