Abstract |
An unusual combination of common variable immunodeficiency (CVID) and Turner's syndrome in a Saudi woman aged 20 years is presented. In addition to panhypogammaglobulinaemia, the patient had CD4+ T lymphocytopenia; however, there was evidence of in vivo activation of T cells and overproduction of soluble interleukin 2 receptor in culture supernate. Mantoux test was positive, but lymphoblastic response to non-specific mitogen was impaired. Immunogenetically the patient was HLA-DR3 positive and karyotypically she was a mosaic (45XO/46XX) with ring X chromosome (46Xr(X)). The presence of severe kyphoscoliosis was possibly related to ring X chromosome. This case highlights the grave consequences of the delayed diagnosis of immunodeficiency and emphasises the heterogeneous nature of CVID.
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Authors | R A al-Attas, A H Rahi, Ahmed el-FE |
Journal | Journal of clinical pathology
(J Clin Pathol)
Vol. 50
Issue 10
Pg. 876-9
(Oct 1997)
ISSN: 0021-9746 [Print] England |
PMID | 9462277
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Adult
- Cervical Vertebrae
(diagnostic imaging)
- Common Variable Immunodeficiency
(complications, diagnostic imaging, immunology)
- Female
- Humans
- Kyphosis
(complications, diagnostic imaging, immunology)
- Lymphocytes
(metabolism)
- Radiography
- Receptors, Interleukin-2
(metabolism)
- Ribs
(diagnostic imaging)
- Spine
(diagnostic imaging)
- T-Lymphocytopenia, Idiopathic CD4-Positive
(complications, diagnostic imaging, immunology)
- Turner Syndrome
(complications, diagnostic imaging, immunology)
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