type iii mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial digeorge syndrome类型iii抗磷脂抗体综合征及严重性球蛋白血症引起混合部分先天性胸腺发育不全综合症患者.pdf

Clinical Developmental Immunology, June–December 2006; 13(2–4): 261–264 Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome† 1 1 1 1 ALICE D. CHANG , RAFFI TACHDJIAN , KERRY GALLAGHER , DEBORAH K. MCCURDY , CHARLES LASSMAN2 1 3 , E. RICHARD STIEHM , ORA YADIN 1Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Mattel Children’s Hospital, University of California, Los Angeles, CA, USA, 2Department of Pathology and Laboratory Medicine, Center for the Health Sciences, University of California, Los Angeles, CA, USA, and 3Division of Nephrology, Department of Pediatrics, Mattel Children’s Hospital, University of California, Los Angeles, CA, USA 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 b2-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 treate