DOSTAL, A., T. LINNANKIVI, M. SOMER, M. KAHKONEN, Jiří LITZMAN and P. TIENARI. Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. Int J Immunogenet. Anglie, 2007, vol. 34, No 3, p. 143-147. ISSN 1744-3121.
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Basic information
Original name Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations
Name in Czech Mapování genu pro IgA deficit v del (18)(q22.3-q23). Výskyt rodinných skrytých t(18q;10p) translokací
Authors DOSTAL, A. (203 Czech Republic), T. LINNANKIVI (246 Finland), M. SOMER (840 United States of America), M. KAHKONEN (246 Finland), Jiří LITZMAN (203 Czech Republic, guarantor) and P. TIENARI (246 Finland).
Edition Int J Immunogenet, Anglie, 2007, 1744-3121.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30102 Immunology
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 1.279
RIV identification code RIV/00216224:14110/07:00032819
Organization unit Faculty of Medicine
UT WoS 000246454000001
Keywords in English IgA deficiency; chromosome 18; translocation
Tags chromosome 18, IgA deficiency, translocation
Tags Reviewed
Changed by Changed by: prof. MUDr. Jiří Litzman, CSc., učo 403. Changed: 2/4/2010 08:04.
Abstract
This study presents a clinical report of the Finnish chromosome t(18q; 10p) translocation family with an overview of eight other selected immunoglobulin A (IgA)-deficient 18q deletion (18q-) patients from seven published articles. The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD). Genotype-phenotype correlation study of the unbalanced t(18q-; 10p+) translocation family members and other 18q- syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3-q23 between markers D18S812-18qter. The haplo-insufficiency of the 18q22.3-q23 gene region is suggested to be a cause of the IgAD phenotype in 18q- individuals. This 7 Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD.
Abstract (in Czech)
Popsána Finská rodina s transnslokací t(18q;10p)a IgA deficitem spolu s dalšími 8 pacienty s IgA deficitem.
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