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CD4 deficiency in myelodysplastic syndrome with monosomy 7
Author(s) -
C. M. R. Weemaes,
F. Preijers,
G. A. M. de Vaan,
J. A. J. M. Bakkeren,
Ina S. Klasen,
Ásgeir Haraldsson
Publication year - 1996
Publication title -
european journal of pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.984
H-Index - 93
eISSN - 1432-1076
pISSN - 0340-6199
DOI - 10.1007/bf02075758
Subject(s) - medicine , monosomy , myelodysplastic syndromes , bone marrow , pediatrics , aneuploidy , immunology , pathology , karyotype , genetics , chromosome , gene , biology
We describe a patient with myelodysplastic syndrome with monosomy 7 presenting with a T-cell defect. He suffered from infections from the age of 10 years, when a CD4 deficiency and impaired lymphoproliferative responses in vitro were found. The only symptom of a myelodysplastic syndrome at that time was thrombocytopenia with giant platelets. Monosomy 7 was found in the bone marrow cells. At the age of 11 years he developed other characteristics of monosomy 7 including splenomegaly and anaemia. Some months later leukaemia was diagnosed.

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