Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report.
One patient with a chromosome 22q11.2 deletion and Evans syndrome is reported in this paper. Microdeletions of 22q11.2 are the main etiology for DiGeorge syndrome, a disorder characterized by heart defects, immune deficiencies due to aplasia or hypoplasia of the thymus, and hypocalcemia. Evans syndrome refers to a hematological autoimmune disorder with autoimmune hemolytic anemia accompanied by immune thrombocytopenia. A wide range of autoimmune disorders have been described in DiGeorge syndrome and velocardiofacial syndrome, including one prior report of autoimmune hemolytic anemia and immune thrombocytopenia. The patient reported herein strengthens the association between the 22q11.2 deletion spectrum and Evans syndrome.
Kratz
Christian P
CP
Department of Pediatric Hematology and Oncology, Heinrich Heine University, Düsseldorf, Germany.
Niehues
Tim
T
Lyding
Sigrid
S
Heusch
Andreas
A
Janssen
Gisela
G
Göbel
Ulrich
U
D000744:Anemia, Hemolytic, Autoimmune / Q000188:drug therapy / Q000235:genetics*; D001284:Atrophy; D001327:Autoimmune Diseases / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D004062:DiGeorge Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D004310:Double Outlet Right Ventricle / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007166:Immunosuppressive Agents / Q000009:adverse effects / Q000627:therapeutic use; D007223:Infant; D007239:Infections / Q000209:etiology; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D011241:Prednisone / Q000009:adverse effects / Q000627:therapeutic use; D012008:Recurrence; D013577:Syndrome; D013921:Thrombocytopenia / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D014681:Velopharyngeal Insufficiency / Q000235:genetics
D007166:Immunosuppressive Agents; D011241:Prednisone