ArticleClinical and experimental immunology2004
Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.
Article in Clinical and experimental immunology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 47 citations in OpenAlex.
- Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.European journal of immunology · 2022Article
- Inherited Immunodeficiencies With High Predisposition to Epstein-Barr Virus-Driven Lymphoproliferative Diseases.Frontiers in immunology · 2018Review
- Article
- Review
- Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections.Clinical microbiology reviews · 2009Review
- Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions.British journal of haematology · 2009Review
- Common variable immunodeficiency: etiological and treatment issues.International archives of allergy and immunology · 2009Review
- Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency.Clinical and experimental immunology · 2007Review
- Common variable immune deficiency: reviews, continued puzzles, and a new registry.Immunologic research · 2007Review
- TACI, isotype switching, CVID and IgAD.Immunologic research · 2007Article
- TACI mutation in common variable immunodeficiency and IgA deficiency.Current allergy and asthma reports · 2006Review
- Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature.Bone marrow transplantation · 2005Article
- Measurement of peripheral B cell subpopulations in common variable immunodeficiency (CVID) using a whole blood method.Clinical and experimental immunology · 2005Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The molecular basis of common variable immunodeficiency (CVID) is undefined, and diagnosis requires exclusion of other diseases including X-linked lymphoproliferative disease (XLP). This rare disorder of immunedysregulation presents typically after Epstein-Barr virus infection and results from defects in the SAP (SLAM associated protein) gene. SAP mutations have been found in a few patients diagnosed previously as CVID, suggesting that XLP may mimic CVID, but no large-scale analysis of CVID patients has been undertaken. We therefore analysed 60 male CVID and hypogammaglobulinaemic patients for abnormalities in SAP protein expression and for mutations in the SAP gene. In this study only one individual, who was found later to have an X-linked family history, was found to have a genomic mutation leading to abnormal SAP cDNA and protein expression. These results demonstrate that SAP defects are rarely observed in CVID patients. We suggest that routine screening of SAP may only be necessary in patients with other suggestive clinical features.
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