Journal article
Cellular immunodeficiency associated with nucleoside phosphorylase deficiency: Immunologic and biochemical studies
Clinical immunology and immunopathology, Vol.8(2), pp.247-253
1977
DOI: 10.1016/0090-1229(77)90114-3
PMID: 198175
Abstract
Biological and immunological studies were performed on a child with severely impaired T-cell function, normal B-cell function, and deficiency of nucleoside phosphorylase. Adenosine deaminase levels in erythrocytes, lymphocytes, and fibroblasts of the patient and her immediate family were normal. Nucleoside phosphorylase activity could not be detected in the three cell types studied in the patient and was present at approximately half the normal level in the parents. A healthy sister had a normal level of the enzyme. No inhibitor was found in the patient's erythrocytes. These findings suggest that erythrocytes or lymphocytes may be used for carrier detection and amniotic cells may be used for intrauterine diagnosis of the deficiency. Cultured EB-virus-infected B cells retained the deficiency thus furnishing a lymphoid cell line for further investigation of the disease. No improvement in immunologic function was obtained after infusion with blood products nor could nucleoside phosphorylase be detected in circulating lymphocytes following such infusions.
Details
- Title: Subtitle
- Cellular immunodeficiency associated with nucleoside phosphorylase deficiency: Immunologic and biochemical studies
- Creators
- Robert SandmanArthur J AmmannCharles GroseDiane W Wara
- Resource Type
- Journal article
- Publication Details
- Clinical immunology and immunopathology, Vol.8(2), pp.247-253
- Publisher
- Elsevier Inc
- DOI
- 10.1016/0090-1229(77)90114-3
- PMID
- 198175
- ISSN
- 0090-1229
- eISSN
- 1090-2341
- Language
- English
- Date published
- 1977
- Academic Unit
- Stead Family Department of Pediatrics; Infectious Disease (Pediatrics)
- Record Identifier
- 9984093481302771
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