title: Aplastic anaemia in a case of hereditary neutrophil Fcgamma receptor IIIb deficiency.
abstract: CD16 antibodies recognize Fcgamma receptors III of a and b types. In a patient with severe idiopathic aplastic anaemia (AA), polymorphonuclear cells, which in normal subjects express FcgammaRIIIb, were found to be CD16 negative. The FcgammaRIIIb gene configuration was analysed by PCR on peripheral blood mononuclear cells. Bi-allelic deletion encompassing at least part of the coding exon 5 was found in the patient and his brother, suggesting a hereditary defect. The patient underwent successful bone marrow transplantation from his HLA-matched brother despite a similar phenotype and genotype. This observation suggests that FcgammaRIIIb hereditary deficiency in donor and/or recipient does not impair engraftment and justifies the use of other monoclonal antibodies in addition to CD16 in the study of GPI-anchored antigen expression.
authors.affiliation: Laboratoire Central d'Hématologie et Unité INSERM 462, Hôpital Saint-Louis, Paris, France.
authors.forename: O
authors.initials: O
authors.lastname: Tournilhac
authors.forename: J J
authors.initials: JJ
authors.lastname: Kiladjian
authors.forename: J M
authors.initials: JM
authors.lastname: Cayuela
authors.forename: M E
authors.initials: ME
authors.lastname: Noguera
authors.forename: J M
authors.initials: JM
authors.lastname: Zini
authors.forename: M T
authors.initials: MT
authors.lastname: Daniel
authors.forename: O
authors.initials: O
authors.lastname: Maarek
authors.forename: E
authors.initials: E
authors.lastname: Gluckman
authors.forename: G
authors.initials: G
authors.lastname: Socié
authors.forename: F
authors.initials: F
authors.lastname: Sigaux
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics* / Q000628:therapy; D016026:Bone Marrow Transplantation; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics; D006801:Humans; D008297:Male; D017452:Receptors, IgG / Q000172:deficiency*
chemical_list: D017452:Receptors, IgG