Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45.
نویسندگان
چکیده
Children presenting with disseminated viral infections should be carefully investigated because they almost invariably have an underlying immunodeficiency. A child is reported who had disseminated cytomegalovirus and a novel form of severe combined immunodeficiency with abnormal expression of the common leucocyte antigen, CD45.
منابع مشابه
A DELETION IN THE GENE ENCODING THE CD45 ANTIGEN IN A PATIENT WITH SCID Tchilan
Tchilan EZ, Wallace DL, Wells RS, Flower DR, Morgan G, Beverley PCL. J Immunol. 2001;166:1308–1313 Purpose of the Study. Defects in genes required for the development of T cells often underlie the primary immunodeficiency known as severe combined immunodeficiency (SCID). Many gene defects have been identified in SCID patients although the most common is the X-linked form of SCID that is attribu...
متن کاملA high-frequency polymorphism in exon 6 of the CD45 tyrosine phosphatase gene (PTPRC) resulting in altered isoform expression.
CD45 (leukocyte common) antigen is a hemopoietic cell-specific tyrosine phosphatase essential for antigen receptor-mediated signaling in lymphocytes. The molecule undergoes complex alternative splicing in the extracellular domain, and different patterns of CD45 splicing are associated with distinct functions. Lack of CD45 leads to severe combined immunodeficiency, and alterations of CD45 splici...
متن کاملA deletion in the gene encoding the CD45 antigen in a patient with SCID.
SCID is a heterogeneous group of hereditary diseases. Mutations in the common gamma-chain (gamma(c)) of cytokine receptors, including those for IL-2, IL-4, IL-7, IL-9, and IL-15, are responsible for an X-linked form of the disease, while mutations of several other genes, including Janus-associated kinase-3, may cause autosomal recessive forms of SCID. We investigated the first SCID patient to b...
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Background: P53 tumor suppressor gene mutation is one of the most common genetic alterations in human malignancies. The mutated from of the gene is stable and can be detected with immunohistochemistry methods. There is much controversy about the expression rate of this gene in malignant melanoma. Objective: To determine the frequency of the P53 antigen expression by sex, age, type and thickness...
متن کاملA case of severe combined immunodeficiency presenting with CMV pneumonia
A five month-old girl was admitted in Ali Asghar Children’s Hospital with a history of three months of fever, cough and dyspnea that her symptoms have exacerbated since two weeks before admission. She was the first child of the family born to consanguineous parents. She was clinically healthy in the past and had gained weight normally and undergone vaccination program with no complication unti...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 76 2 شماره
صفحات -
تاریخ انتشار 1997