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Table 1 Gene and Chromosomal localization

From: Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review

Condition

Gene

Chromosome

Comments

Clinical

X-linked CGD

CYBB

XP21

Deletion or missense, nonsense and/or frameshift mutations may occur

Opportunistic infection

Autoimmunity

Organ dysfunction

McLeod syndrome

XK

XP21

Absent Kx antigen and weak expression of Kell on RBC surface

XK is linked to Kell blood group antigen

Kell locus mutations can also lead to the syndrome

Acanthocytosis

Elevated CPK

Huntington's chorea-like disease

Muscle weakness and atrophy

Cardiomyopathy

Psychiatric disease Cognitive impairment