| A case of WHIM syndrome associated with diabetes and hypothyroidism. | |
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MedLine Citation:
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PMID: 19476565 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The WHIM syndrome is a rare immunological disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. We hypothesized that immunological or genetic mechanisms may link WHIM syndrome and type 1 diabetes. We report that the young girl with WHIM syndrome developed diabetes and transient hypothyroidism. A nonsense mutation (C-->T) truncating the CXC chemokine receptor 4 (CXCR4) C-terminal cytoplasmic tail domain occurred at nucleotide position 1000(R334X) of the CXCR4 gene in one allele of the patient was identified, and the person was diagnosed as having WHIM syndrome. Recent observation suggested that the CXCR4, a G-protein-coupled receptor with a unique ligand, CXCL12, might be involved in the pathogenesis for type 1 diabetes. Taken into consideration the concurrent prevalence of the two disorders and the speculated common pathogenesis associated with the CXCR4, our patient may enable us to understand the genetic damage related to accelerated apoptosis. |
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Authors:
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Junji Takaya; Yuri Fujii; Hirohiko Higashino; Shoichiro Taniuchi; Makiko Nakamura; Kazunari Kaneko |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-05-19 |
Journal Detail:
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Title: Pediatric diabetes Volume: 10 ISSN: 1399-5448 ISO Abbreviation: Pediatr Diabetes Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-11-05 Completed Date: 2010-02-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100939345 Medline TA: Pediatr Diabetes Country: Denmark |
Other Details:
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Languages: eng Pagination: 484-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Kansai Medical University, Moriguchi, Osaka 570-8506, Japan. takaya@takii.kmu.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chemokine CXCL12
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genetics* Child, Preschool Codon, Nonsense Diabetes Mellitus, Type 1 / complications*, genetics Female Humans Hypothyroidism / complications*, drug therapy, immunology Immune System Diseases / complications, genetics* Infant, Newborn Polyuria / etiology Receptors, CXCR4 / genetics* Syndrome Thyroid Hormones / blood Thyroxine / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/CXCL12 protein, human; 0/CXCR4 protein, human; 0/Chemokine CXCL12; 0/Codon, Nonsense; 0/Receptors, CXCR4; 0/Thyroid Hormones; 7488-70-2/Thyroxine |
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