Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients.
Chronic granulomatous disease (CGD) is an innate immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. In the course of 21 years, 38 Israeli CGD patients were diagnosed with 17 gene mutations, seven of which were new. Clinical, functional, and molecular studies were accomplished. Although X-linked recessive (XLR)-CGD is worldwide the most common genotype of the disease (~70%), in our study only 11 patients (29%) suffered from XLR-CGD. In Israel, the higher incidence of the autosomal recessive (AR) form of CGD (63%) may be related to consanguineous marriages. In three patients (8%), all four proteins of the NADPH oxidase were present. Severe clinical expression was found both in the XLR and AR forms, but in general a milder disease was evident in AR-CGD, particularly in patients with p47(phox) deficiency. Despite early and aggressive therapy, a mortality rate of 26% was noted. Given that bone-marrow transplantation was successful in five of seven patients, it is recommended to perform it as early as possible before tissue damage is irreversible.
Wolach
Baruch
B
Department of Pediatrics, Meir Medical Center, Kfar Saba, Israel. baruchw@clalit.org.il
Gavrieli
Ronit
R
de Boer
Martin
M
Gottesman
Giora
G
Ben-Ari
Josef
J
Rottem
Menachem
M
Schlesinger
Yechiel
Y
Grisaru-Soen
Galia
G
Etzioni
Amos
A
Roos
Dirk
D
D000328:Adult; D000368:Aged; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001419:Bacteria / Q000302:isolation & purification; D001424:Bacterial Infections / Q000209:etiology; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D005260:Female; D015316:Genetic Therapy; D006105:Granulomatous Disease, Chronic / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007557:Israel; D008297:Male; D009154:Mutation; D009181:Mycoses / Q000209:etiology; D019255:NADPH Oxidases / Q000235:genetics* / Q000378:metabolism; D009504:Neutrophils / Q000276:immunology
D000900:Anti-Bacterial Agents; D019255:NADPH Oxidases