title: Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome.
abstract: We studied a 14 year-old boy with partial DiGeorge syndrome (DGS), status post complete repair of Tetralogy of Fallot, who developed antiphospholipid syndrome (APS) and type III mixed cryoglobulinemia. He presented with recurrent fever and dyspnea upon exertion secondary to right pulmonary embolus on chest computed tomography (CT). Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated beta(2)-glycoprotein I IgM antibodies. Infectious work-up revealed only positive anti-streptolysin O (ASO) and anti-DNAse B titers. Autoimmune studies showed strongly positive anti-platelet IgM, elevated rheumatoid factor (RF), and positive cryocrit. Renal biopsy for evaluation of proteinuria and hematuria showed diffuse proliferative glomerulonephritis (DPGN) with membranoproliferative features consistent with cryoglobulinemia. Immunofixation showed polyclonal bands. Our patient was treated successfully with antibiotics, prednisone, and mycophenolate mofetil (MMF). This is the first report of a patient with partial DGS presenting with APS and type III mixed cryoglobulinemia possibly due to Streptococcal infection.
authors.affiliation: Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Mattel Children's Hospital, University of California, Los Angeles, CA 90095, USA. alchang@mednet.ucla.edu
authors.forename: Alice D
authors.initials: AD
authors.lastname: Chang
authors.forename: Raffi
authors.initials: R
authors.lastname: Tachdjian
authors.forename: Kerry
authors.initials: K
authors.lastname: Gallagher
authors.forename: Deborah K
authors.initials: DK
authors.lastname: McCurdy
authors.forename: Charles
authors.initials: C
authors.lastname: Lassman
authors.forename: E Richard
authors.initials: ER
authors.lastname: Stiehm
authors.forename: Ora
authors.initials: O
authors.lastname: Yadin
mesh_terms: D000293:Adolescent; D016736:Antiphospholipid Syndrome / Q000209:etiology* / Q000276:immunology; D003449:Cryoglobulinemia / Q000209:etiology* / Q000276:immunology; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male