title: Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients.
abstract: 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.
authors: Department of Pediatrics, Meir Medical Center, Kfar Saba, Israel. baruchw@clalit.org.il
authors: Baruch
authors: B
authors: Wolach
authors: Ronit
authors: R
authors: Gavrieli
authors: Martin
authors: M
authors: de Boer
authors: Giora
authors: G
authors: Gottesman
authors: Josef
authors: J
authors: Ben-Ari
authors: Menachem
authors: M
authors: Rottem
authors: Yechiel
authors: Y
authors: Schlesinger
authors: Galia
authors: G
authors: Grisaru-Soen
authors: Amos
authors: A
authors: Etzioni
authors: Dirk
authors: D
authors: Roos
mesh_terms: 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
chemical_list: D000900:Anti-Bacterial Agents; D019255:NADPH Oxidases