ArticleClinical and experimental immunology2001
X-linked lymphoproliferative disease: three atypical cases.
Article in Clinical and experimental immunology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 58 citations in OpenAlex.
- Inherited Immunodeficiencies With High Predisposition to Epstein-Barr Virus-Driven Lymphoproliferative Diseases.Frontiers in immunology · 2018Review
- Article
- 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
- TACI mutation in common variable immunodeficiency and IgA deficiency.Current allergy and asthma reports · 2006Review
- Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.Human genetics · 2006Article
- Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature.Bone marrow transplantation · 2005Article
- Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency.Clinical and diagnostic laboratory immunology · 2005Article
- Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases.Journal of clinical immunology · 2004Article
- Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.Clinical and experimental immunology · 2004Article
- The molecular pathology of primary immunodeficiencies.The Journal of molecular diagnostics : JMD · 2004Review
- Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency.International journal of hematology · 2003Article
- Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.Human genetics · 2003Article
- X-linked lymphoproliferative disease: genetic lesions and clinical consequences.Current allergy and asthma reports · 2002Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Common variable immunodeficiency (CVID) is the most frequently occurring primary immunodeficiency in both children and adults. The molecular basis of CVID has not been defined, and diagnosis involves exclusion of other molecularly defined disorders. X-linked lymphoproliferative disease (XLP) is a rare disorder in which severe immunodysregulatory phenomena typically follow Epstein-Barr virus (EBV) infection. Boys who survive initial EBV infection have a high incidence of severe complications, including progressive immunodeficiency, aplastic anaemia, lymphoproliferative disease and lymphoma. Survival beyond the second decade is unusual, although bone marrow transplantation can be curative. Until recently reliable diagnostic testing for XLP has not been available, but the identification of the XLP gene, known as SH2D1A, and coding for a protein known as SAP, means that molecular diagnosis is now possible, both by protein expression assays, and mutation detection, although the mutation detection rate in several series is only 55-60%. We describe three male patients initially diagnosed as affected by CVID, one of whom developed fatal complications suggestive of XLP, and all of whom lack expression of SAP. Two out of three have disease-causing mutations in the SAP gene, consistent with published data for XLP. These findings raise the possibility that a subgroup of patients with CVID may be phenotypic variants of XLP. Further studies are necessary to investigate this possibility, and also to clarify the prognostic significance of SAP abnormalities in such patients in the absence of typical features of XLP.
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