[Hereditary polymorphonuclear neutrophil deficiencies].
Rare hereditary deficiencies have been described which affect each functional stage of polymorphonuclear neutrophils. They almost invariably lead to recurrent acute infection. Among the abnormalities involving adhesion and motility, the following can be noted: the Buckley syndrome; and leucocyte type 1 and 2 adhesion deficiencies, respectively caused by a deficiency in membrane expression of beta 2 integrin CD11/CD18, and sialyl lewis X. Granulation system abnormalities include relatively non-symptomatic myeloperoxidase deficiency, specific granulation deficiency or the Chediak-Higashi syndrome with the presence of giant lysosomal granulations. Chronic or familial septic granulomatosis constitutes the main disease described due to the oxidative PMN burst connected with the functional impairment of one of the constituents of NADPH oxidase (with an incidence of one in 5.10(6) to one in 10(6) births) The transmission is X-linked, or autosomal recessive depending on the mutation. The antenatal detection of the X-linked component, gp91 phox, can be made in suspected carrier mothers. In addition to the standard treatment (Bactrim and Itraconazole), bone marrow transplantation may also be carried out, and in future gene therapy may be introduced.
Chollet-Martin
S
S
Service d'hématologie et d'immunologie biologiques et Inserm U479, CHU Bichat-Claude-Bernard, 46, rue Henri-Huchard, 75018 Paris, France.
Gougerot-Pocidalo
M A
MA
D015703:Antigens, CD / Q000097:blood; D018821:CD18 Antigens / Q000097:blood; D006801:Humans; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000097:blood / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D016177:Macrophage-1 Antigen / Q000097:blood; D009504:Neutrophils / Q000502:physiology*; D014960:X Chromosome
D015703:Antigens, CD; D018821:CD18 Antigens; D016177:Macrophage-1 Antigen
Déficits héréditaires des polynucléaires neutrophiles.