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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