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Severe aplastic anemia in a patient with primary immunodeficiency
Author(s) -
OHGA SHOUICHI,
NAGASHIMA TAKAKO,
NISHIZAKI MARI,
HIRABARU CHIKAKO,
INOUE TOSHIROU,
ISE KEIKO,
HARA TOSHIRO,
UEDA KOHJI
Publication year - 1994
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1994.tb03164.x
Subject(s) - medicine , primary immunodeficiency , aplastic anemia , immunodeficiency , cd8 , severe combined immunodeficiency , monosomy , immunology , trisomy , anemia , karyotype , bone marrow , immune system , chromosome , genetics , biology , gene
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.