Severe aplastic anemia in a patient with primary immunodeficiency |
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Authors: | SHOUICHI OHGA MD TAKAKO NAGASHIMA MARI NISHIZAKI CHIKAKO HIRABARU TOSHIROU INOUE KEIKO ISE TOSHIRO HARA KOHJI UEDA |
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Affiliation: | 1. Department of Pediatrics, Faculty of Medicine, Kyushu University, Fukuoka;2. Division of Pediatrics, Oita Prefectural Hospital, Oita;3. Division of Pediatrics, Saga Kouseikan Prefectural Hospital, Saga, Japan |
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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 γ/δ-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. |
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Keywords: | aplastic anemia common variable immunodeficiency monosomy 7 myelodysplastic syndrome trisomy 8 |
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