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Digeorge syndrome/chromosome 22q11.2 deletion syndrome

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Abstract

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 immunodeficiendy 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.

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  1. Division of Immunologic and Infectious Diseases, Children’s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, 19104, Philadelphia, PA, USA

    Kathleen E. Sullivan MD, PhD

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  1. Kathleen E. Sullivan MD, PhD
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Sullivan, K.E. Digeorge syndrome/chromosome 22q11.2 deletion syndrome. Curr Allergy Asthma Rep 1, 438–444 (2001). https://doi.org/10.1007/s11882-001-0029-z

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