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

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...

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Bibliographic Details
Published in:Journal of clinical pathology 1997-10, Vol.50 (10), p.876-879
Main Authors: al-Attas, R A, Rahi, A H, Ahmed el-FE
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Cervical Vertebrae - diagnostic imaging
Common Variable Immunodeficiency - complications
Common Variable Immunodeficiency - diagnostic imaging
Common Variable Immunodeficiency - immunology
Female
Humans
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
Immunopathology
Kyphosis - complications
Kyphosis - diagnostic imaging
Kyphosis - immunology
Lymphocytes - metabolism
Medical sciences
Radiography
Receptors, Interleukin-2 - metabolism
Ribs - diagnostic imaging
Spine - diagnostic imaging
T-Lymphocytopenia, Idiopathic CD4-Positive - complications
T-Lymphocytopenia, Idiopathic CD4-Positive - diagnostic imaging
T-Lymphocytopenia, Idiopathic CD4-Positive - immunology
Tropical medicine
Turner Syndrome - complications
Turner Syndrome - diagnostic imaging
Turner Syndrome - immunology
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Description
Summary: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.
ISSN:0021-9746
1472-4146
DOI:10.1136/jcp.50.10.876