Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) | Zendy

Christopher A. Smith | Zendy; Deborah A. Driscoll | Zendy; Beverly S. Emanuel | Zendy; Donna M. McDonaldMcGinn | Zendy; Elaine H. Zackai | Zendy; Kathleen E. Sullivan | Zendy

Open Access

Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

Author(s) -

Christopher A. Smith,

Deborah A. Driscoll,

Beverly S. Emanuel,

Donna M. McDonaldMcGinn,

Elaine H. Zackai,

Kathleen E. Sullivan

Publication year - 1998

Publication title -

clinical and diagnostic laboratory immunology

Language(s) - English

Resource type - Journals

eISSN - 1098-6588

pISSN - 1071-412X

DOI - 10.1128/cdli.5.3.415-417.1998

Subject(s) - digeorge syndrome , selective iga deficiency , immunodeficiency , immunology , deletion syndrome , medicine , population , antibody , chromosome , odds ratio , iga deficiency , biology , genetics , immune system , gene , phenotype , environmental health

We wished to determine the prevalence of immunoglobulin A (IgA) deficiency in patients with the chromosome 22q11.2 deletion syndrome. A total of 32 patients with the chromosome 22q11.2 deletion were examined for IgA deficiency. We report a 13% (n = 4) prevalence of IgA deficiency in patients with this syndrome. The odds ratio of IgA deficiency in this population is 14.20 (P < 0.0001). This confirms the occurrence of significant humoral deficits in this predominantly cellular immunodeficiency.

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