DiGeorge syndrome/chromosome 22q11.2 deletion syndrome.
DiGeorge syndrome is characterized by conotruncal cardiac defects, hypocalcemia, and a hypoplastic thymus. Many, but not all, patients have a heterozygous deletion of chromosome 22q11.2. In its most severe form, it represents a devastating syndrome with high mortality. Patients with severe immunodeficiency are candidates for a thymic transplant or a fully matched bone marrow transplant. Fortunately, the majority of patients with either DiGeorge syndrome or chromosome 22q11.2 deletion syndrome have a mild to moderate immunodeficiency. These patients may develop recurrent infections or autoimmune disease.
Sullivan
K E
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Division of Immunologic and Infectious Diseases, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA. sullivak@mail.med.upenn.edu
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000276:immunology; D004062:DiGeorge Syndrome / Q000453:epidemiology / Q000276:immunology* / Q000628:therapy; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology / Q000276:immunology / Q000628:therapy