title: A case of WHIM syndrome associated with diabetes and hypothyroidism.
abstract: 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.
authors.affiliation: Department of Pediatrics, Kansai Medical University, Moriguchi, Osaka 570-8506, Japan. takaya@takii.kmu.ac.jp
authors.forename: Junji
authors.initials: J
authors.lastname: Takaya
authors.forename: Yuri
authors.initials: Y
authors.lastname: Fujii
authors.forename: Hirohiko
authors.initials: H
authors.lastname: Higashino
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Taniuchi
authors.forename: Makiko
authors.initials: M
authors.lastname: Nakamura
authors.forename: Kazunari
authors.initials: K
authors.lastname: Kaneko
mesh_terms: D054377:Chemokine CXCL12 / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000150:complications* / Q000188:drug therapy / Q000276:immunology; D007154:Immune System Diseases / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D011141:Polyuria / Q000209:etiology; D019718:Receptors, CXCR4 / Q000235:genetics*; D013577:Syndrome; D013963:Thyroid Hormones / Q000097:blood; D013974:Thyroxine / Q000627:therapeutic use
chemical_list: C515255:CXCL12 protein, human; C527276:CXCR4 protein, human; D054377:Chemokine CXCL12; D018389:Codon, Nonsense; D019718:Receptors, CXCR4; D013963:Thyroid Hormones; D013974:Thyroxine