ArticleInternational journal of hematology2003
Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency.
Article in International journal of hematology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 32 citations in OpenAlex.
- X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases.Case reports in medicine · 2020Article
- Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.Journal of clinical immunology · 2018Article
- Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.Journal of immunological methods · 2010Article
- History of primary immunodeficiency diseases in iran.Iranian journal of pediatrics · 2010Article
- Common variable immunodeficiency: etiological and treatment issues.International archives of allergy and immunology · 2009Review
- X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency.European journal of pediatrics · 2006Article
- Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency.Clinical and diagnostic laboratory immunology · 2005Article
- Defective B cell responses in the absence of SH2D1A.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Common variable immunodeficiency (CVID) is a highly heterogeneous disease with an unpredictable pattern. CVID appears to have an immunologic and clinical phenotype similar to some hereditary humoral immunodeficiencies, including X-linked lymphoproliferative disease (XLP). The differential diagnosis of CVID and XLP is clinically of importance, because the two diseases have markedly different prognoses and treatment. The recent identification of the XLP gene, known as SH2D1A, has permitted a definitive diagnosis of XLP. In this report, we describe a male patient with XLP who initially received a diagnosis of CVID and developed a fatal course. Using genetic analysis, we confirmed that the patient harbored the SH2D1A gene mutation. The results support the notion that the possibility of a SH2D1A gene mutation should be considered in hypogammaglobulinemic male patients before a diagnosis of CVID is made.
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