Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retar...
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Clinical and Developmental Immunology |
| Online Access: | http://dx.doi.org/10.1155/2010/586342 |
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| author | Mohammed Al-Owain Namik Kaya Hamad Al-Zaidan Ibrahim Bin Hussain Hadeel Al-Manea Hindi Al-Hindi Shelley Kennedy M. Anwar Iqbal Hamad Al-Mojalli Albandary Al-Bakheet Anne Puel Jean-Laurent Casanova Saleh Al-Muhsen |
| author_facet | Mohammed Al-Owain Namik Kaya Hamad Al-Zaidan Ibrahim Bin Hussain Hadeel Al-Manea Hindi Al-Hindi Shelley Kennedy M. Anwar Iqbal Hamad Al-Mojalli Albandary Al-Bakheet Anne Puel Jean-Laurent Casanova Saleh Al-Muhsen |
| author_sort | Mohammed Al-Owain |
| collection | DOAJ |
| description | Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure consistent with APECED. In addition, he has dysmorphic facial features, growth retardation, and severe global developmental delay. Patient had late development of chronic renal failure. The blastogenesis revealed depressed lymphocytes' response to Candida albicans at 38% when compared to control. Chromosome analysis of the patient revealed 46,XY,del(4)(q33). FISH using a 4p/4q subtelomere DNA probe assay confirmed the deletion of qter subtelomere on chromosome 4. Parental chromosomes were normal. The deleted array was further defined using array CGH. AIRE full gene sequencing revealed a homozygous mutation namely 845_846insC. Renal biopsy revealed chronic interstitial nephritis with advanced fibrosis. In addition, there was mesangial deposition of C3, C1q, and IgM. This is, to the best of our knowledge, the first paper showing evidence of autoimmune nephropathy by renal immunofluorescence in a patient with APECED and terminal 4q deletion. |
| format | Article |
| id | doaj-art-757803aabe25471397ca63c8130f9b18 |
| institution | Kabale University |
| issn | 1740-2522 1740-2530 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Developmental Immunology |
| spelling | doaj-art-757803aabe25471397ca63c8130f9b182025-02-03T01:31:07ZengWileyClinical and Developmental Immunology1740-25221740-25302010-01-01201010.1155/2010/586342586342Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune NephropathyMohammed Al-Owain0Namik Kaya1Hamad Al-Zaidan2Ibrahim Bin Hussain3Hadeel Al-Manea4Hindi Al-Hindi5Shelley Kennedy6M. Anwar Iqbal7Hamad Al-Mojalli8Albandary Al-Bakheet9Anne Puel10Jean-Laurent Casanova11Saleh Al-Muhsen12Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaDepartment of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaDepartment of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaOntario Newborn Screening Program, Children's Hospital of Eastern Ontario, Ottawa, ON, K1H8L1, CanadaPathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USADepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U550, 75015 Paris, FranceLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U550, 75015 Paris, FranceDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi ArabiaAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure consistent with APECED. In addition, he has dysmorphic facial features, growth retardation, and severe global developmental delay. Patient had late development of chronic renal failure. The blastogenesis revealed depressed lymphocytes' response to Candida albicans at 38% when compared to control. Chromosome analysis of the patient revealed 46,XY,del(4)(q33). FISH using a 4p/4q subtelomere DNA probe assay confirmed the deletion of qter subtelomere on chromosome 4. Parental chromosomes were normal. The deleted array was further defined using array CGH. AIRE full gene sequencing revealed a homozygous mutation namely 845_846insC. Renal biopsy revealed chronic interstitial nephritis with advanced fibrosis. In addition, there was mesangial deposition of C3, C1q, and IgM. This is, to the best of our knowledge, the first paper showing evidence of autoimmune nephropathy by renal immunofluorescence in a patient with APECED and terminal 4q deletion.http://dx.doi.org/10.1155/2010/586342 |
| spellingShingle | Mohammed Al-Owain Namik Kaya Hamad Al-Zaidan Ibrahim Bin Hussain Hadeel Al-Manea Hindi Al-Hindi Shelley Kennedy M. Anwar Iqbal Hamad Al-Mojalli Albandary Al-Bakheet Anne Puel Jean-Laurent Casanova Saleh Al-Muhsen Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy Clinical and Developmental Immunology |
| title | Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy |
| title_full | Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy |
| title_fullStr | Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy |
| title_full_unstemmed | Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy |
| title_short | Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy |
| title_sort | renal failure associated with apeced and terminal 4q deletion evidence of autoimmune nephropathy |
| url | http://dx.doi.org/10.1155/2010/586342 |
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