Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis.

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.

• 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)

Chemical References

• Receptors, Interleukin-2

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)