" /> Granulomatous disease, chronic, autosomal recessive, 2 - CISMeF





Preferred Label : Granulomatous disease, chronic, autosomal recessive, 2;

Symbol : CGD2;

CISMeF acronym : CDG2; CGD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cgd, autosomal recessive cytochrome b-positive, type II; Granulomatous disease, chronic, due to ncf2 deficiency; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II; Neutrophil cytosol factor 2 deficiency; Ncf2 deficiency; P67-phox deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neutrophil cytosolic factor-2 gene, p67-phox (NCF2, 608515.0001);

Laboratory abnormalities : Presence of cytochrome b(-245); Negative nitroblue tetrazolium (NBT) reduction test; Deficiency or absence of p67-phox protein (type II); Decreased activity of NADPH oxidase;

Prefixed ID : #233710;

Details


You can consult :


Nous contacter.
02/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.