title: Severe aplastic anemia in a patient with primary immunodeficiency.
abstract: This paper reports the case of a 6 year old boy with primary immunodeficiency disease, whose marrow cells showed dyshematopoietic features, that was subsequently transformed to severe aplastic anemia. He was first diagnosed as having congenital immunodeficiency comprising deficiency of immunoglobulin A (IgA), IgG2 and IgG4, depressed mitogen responses, lymphopenia with inverted CD4/CD8 ratio and an increased proportion of T-cell receptor gamma/delta-bearing cells. Cytogenetic study of the peripheral blood showed a normal karyotype of 46,XY, but that of the marked hypoplastic marrow demonstrated one cell with monosomy 7 and another with trisomy 8 in the 20 cells examined.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Ohga
authors.forename: T
authors.initials: T
authors.lastname: Nagashima
authors.forename: M
authors.initials: M
authors.lastname: Nishizaki
authors.forename: C
authors.initials: C
authors.lastname: Hirabaru
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: K
authors.initials: K
authors.lastname: Ise
authors.forename: T
authors.initials: T
authors.lastname: Hara
authors.forename: K
authors.initials: K
authors.lastname: Ueda
mesh_terms: D000741:Anemia, Aplastic / Q000209:etiology*; D002648:Child; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics; D008297:Male; D009190:Myelodysplastic Syndromes / Q000150:complications