Chronic granulomatous disease syndrome

Also known as: CGD

Phagocyte NADPH oxidase defect with recurrent infections and granulomas.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected, X-linked; Female: carriers; Children: yes
Gene(s) involved: CYBA, CYBB, NCF1, NCF2, NCF4

Etiology & mechanism

Defective respiratory burst.

Gene(s) involved (5)

CYBACYBBNCF1NCF2NCF4

Symptoms & signs (6)

aspergillosiscolitisgranulomaslymphadenitispneumoniarecurrent abscesses

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