Literature DB >> 6782212

Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies.

R M Lewkonia, C C Lin, R H Haslam.   

Abstract

A case is described of selective immunoglobulin A deficiency in association with an 18q+ anomaly, apparently the result of a break at 18q23 and a de novo translocation. The presentation is compared with the phenotypic and immunological features in an IgA deficient 18q-- patient. The findings in these two patients suggest that gene(s) concerned with regulation of IgA synthesis are located on the distal long arm of chromosome 18 between 18q23 and qter.

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Year:  1980        PMID: 6782212      PMCID: PMC1885921          DOI: 10.1136/jmg.17.6.453

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  16 in total

1.  Spiramycin the the prevention of postoperative staphylococcal infection.

Authors:  J A Macfarlane; A A Mitchell; J M Walsh; J J Robertson
Journal:  Lancet       Date:  1968-01-06       Impact factor: 79.321

2.  [Inherited translocation t(4q minus;18q plus) with unbalanced progeny of different types (author's transl)].

Authors:  H Knörr-Gärtner; K Knörr; B Haas; W Vogel; J W Siebers
Journal:  Humangenetik       Date:  1974-03-28

3.  Immunoglobulin abnormality in a girl with a large chromosome 18.

Authors:  S Yanagisawa
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

4.  IgA determinants on B-lymphocytes in patients with deficiency of circulating IgA.

Authors:  A R Lawton; S A Royal; K S Self; M D Cooper
Journal:  J Lab Clin Med       Date:  1972-07

5.  [Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].

Authors:  A Schinzel; W Schmid
Journal:  Humangenetik       Date:  1972

6.  Absent IgA and deletions of chromosome 18.

Authors:  J M Stewart; S Go; E Ellis; A Robinson
Journal:  J Med Genet       Date:  1970-03       Impact factor: 6.318

7.  Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4qminus; 18qplus).

Authors:  C Fonatsch; S D Flatz
Journal:  Humangenetik       Date:  1974

8.  Genetic aspects of selective immunoglobulin A deficiency.

Authors:  F J Grundbacher
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

9.  Family studies in individuals with selective absence of gamma-A-globulin.

Authors:  J B Natvig; M Harboe; O Fausa; A Tveit
Journal:  Clin Exp Immunol       Date:  1971-02       Impact factor: 4.330

10.  Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases.

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1975
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  6 in total

1.  Molecular characterization of patients with 18q23 deletions.

Authors:  G Strathdee; R Sutherland; J J Jonsson; R Sataloff; M Kohonen-Corish; D Grady; J Overhauser
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

Review 2.  Physiology of IgA and IgA deficiency.

Authors:  C Cunningham-Rundles
Journal:  J Clin Immunol       Date:  2001-09       Impact factor: 8.317

3.  Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

Authors:  L Boghosian-Sell; R Mewar; W Harrison; R M Shapiro; E H Zackai; J Carey; L Davis-Keppen; L Hudgins; J Overhauser
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

4.  Features of two cases with 18q deletion syndrome.

Authors:  Elif Özsu; Gül Yeşiltepe Mutlu; Ayşegül Bütel Yüksel; Şükrü Hatun
Journal:  J Clin Res Pediatr Endocrinol       Date:  2014

Review 5.  Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults.

Authors:  Ida Judyta Malesza; Michał Malesza; Iwona Krela-Kaźmierczak; Aleksandra Zielińska; Eliana B Souto; Agnieszka Dobrowolska; Piotr Eder
Journal:  Int J Mol Sci       Date:  2020-07-23       Impact factor: 5.923

Review 6.  Update on Infections in Primary Antibody Deficiencies.

Authors:  Yesim Yilmaz Demirdag; Sudhir Gupta
Journal:  Front Immunol       Date:  2021-02-11       Impact factor: 7.561

  6 in total

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