Granulomatous Disease, Chronic

Granulomatös sjukdom, kronisk

Svensk definition

En recessiv, X-kopplad leukocytdefekt, vilken innebär att fagocytiska celler tar upp, men inte bryter ned, bakterier, med återkommande granulomatösa bakterieinfektioner som följd.

Engelsk definition

A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Chronic Granulomatous Diseases Granulomatous Diseases, Chronic Chronic Granulomatous Disease Autosomal Recessive Chronic Granulomatous Disease Granulomatous Disease, Chronic, X-Linked Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked X-Linked Chronic Granulomatous Disease X Linked Chronic Granulomatous Disease Granulomatous Disease, Chronic, X-Linked, Variant Chronic Granulomatous Disease, Atypical Chronic Granulomatous Disease, X-Linked Chronic Granulomatous Disease, X Linked Cytochrome B-Positive Granulomatous Disease, Chronic, X-Linked