Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome
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 o...
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| Format: | Article |
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Wiley
2006-01-01
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| Series: | Clinical and Developmental Immunology |
| Online Access: | http://dx.doi.org/10.1080/17402520600877778 |
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| author | Alice D. Chang Raffi Tachdjian Kerry Gallagher Deborah K. McCurdy Charles Lassman E. Richard Stiehm Ora Yadin |
| author_facet | Alice D. Chang Raffi Tachdjian Kerry Gallagher Deborah K. McCurdy Charles Lassman E. Richard Stiehm Ora Yadin |
| author_sort | Alice D. Chang |
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| description | 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 β2-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. |
| format | Article |
| id | doaj-art-19636f5de8bd4423a5c1f563cd998572 |
| institution | Kabale University |
| issn | 1740-2522 1740-2530 |
| language | English |
| publishDate | 2006-01-01 |
| publisher | Wiley |
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| series | Clinical and Developmental Immunology |
| spelling | doaj-art-19636f5de8bd4423a5c1f563cd9985722025-02-03T01:09:12ZengWileyClinical and Developmental Immunology1740-25221740-25302006-01-01132-426126410.1080/17402520600877778Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge SyndromeAlice D. Chang0Raffi Tachdjian1Kerry Gallagher2Deborah K. McCurdy3Charles Lassman4E. Richard Stiehm5Ora Yadin6Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Mattel Children's Hospital, University of California, Los Angeles, CA, USADivision of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Mattel Children's Hospital, University of California, Los Angeles, CA, USADivision of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Mattel Children's Hospital, University of California, Los Angeles, CA, USADivision of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Mattel Children's Hospital, University of California, Los Angeles, CA, USADepartment of Pathology and Laboratory Medicine, Center for the Health Sciences, University of California, Los Angeles, CA, USADivision of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Mattel Children's Hospital, University of California, Los Angeles, CA, USADivision of Nephrology, Department of Pediatrics, Mattel Children's Hospital, University of California, Los Angeles, CA, USAWe 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 β2-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.http://dx.doi.org/10.1080/17402520600877778 |
| spellingShingle | Alice D. Chang Raffi Tachdjian Kerry Gallagher Deborah K. McCurdy Charles Lassman E. Richard Stiehm Ora Yadin Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome Clinical and Developmental Immunology |
| title | Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome |
| title_full | Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome |
| title_fullStr | Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome |
| title_full_unstemmed | Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome |
| title_short | Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome |
| title_sort | type iii mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial digeorge syndrome |
| url | http://dx.doi.org/10.1080/17402520600877778 |
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