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Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy
Joint Authors
al-Bakheet, Albandary
al-Mojalli, Hamad
al-Owain, Mohammed
Iqbal, M. Anwar
Kennedy, Shelley
Puel, Anne
al-Muhsen, Saleh
Casanova, Jean-Laurent
al-Manea, Hadeel
al-Zaidan, Hamad
al-Hindi, Hindi
Kaya, Namik
Bin Hussain, Ibrahim
Source
Journal of Immunology Research
Issue
Vol. 2010, Issue 2010 (31 Dec. 2010), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-11-29
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
al-Owain, Mohammed& Kaya, Namik& al-Zaidan, Hamad& Bin Hussain, Ibrahim& al-Manea, Hadeel& al-Hindi, Hindi…[et al.]. 2010. Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy. Journal of Immunology Research،Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-989324
Modern Language Association (MLA)
al-Owain, Mohammed…[et al.]. Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy. Journal of Immunology Research No. 2010 (2010), pp.1-7.
https://search.emarefa.net/detail/BIM-989324
American Medical Association (AMA)
al-Owain, Mohammed& Kaya, Namik& al-Zaidan, Hamad& Bin Hussain, Ibrahim& al-Manea, Hadeel& al-Hindi, Hindi…[et al.]. Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy. Journal of Immunology Research. 2010. Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-989324
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-989324