Literature DB >> 6842539

Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?

J L García Miranda, A Otero Gómez, H Varela Ansedes, N Rancel Torres, C González Espinosa, C Cortabarría, G Sánchez Salgado.   

Abstract

The cytogenetic analysis of a patient with selective deficit of IgA and decrease in IgM, IgE, and IgG is presented. Using trypsin-Giemsa banding the karyotype showed monosomy 22 (45,XX,-22). The interest of this case lies in the rarity of the illness and in the association of monosomy 22 with hypogammaglobulinaemia and selective deficit of IgA, particularly as this chromosome is known to contain genes coding for immunoglobulin chains.

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Year:  1983        PMID： 6842539      PMCID： PMC1048992          DOI： 10.1136/jmg.20.1.69

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


  12 in total

1.  Continuous cultures of fused cells secreting antibody of predefined specificity.

Authors:  G Köhler; C Milstein
Journal:  Nature       Date:  1975-08-07       Impact factor: 49.962

2.  [PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].

Authors:  J LEJEUNE; R BERGER; M O RETHORE; L ARCHAMBAULT; H JEROME; S THIEFFRY; J AICARDI; M BROYER; J LAFOURCADE; J CRUVEILLER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1964-11-30

3.  Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.

Authors:  R J Warren; D L Rimoin; R L Summitt
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

4.  A "G" deletion syndrome anti-mongolism.

Authors:  H G Richmond; P MacArthur; D Hunter
Journal:  Acta Paediatr Scand       Date:  1973-03

5.  Group G deletion syndromes.

Authors:  R P Kelch; M Franklin; R D Schmickel
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

6.  Monosomy G: case report and review of the literature.

Authors:  R D Greenwood; A Sommer
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

7.  The G deletion syndromes.

Authors:  R J Warren; D L Rimoin
Journal:  J Pediatr       Date:  1970-10       Impact factor: 4.406

8.  Assignment of the genes for human lambda immunoglobulin chains to chromosome 22.

Authors:  J Erikson; J Martinis; C M Croce
Journal:  Nature       Date:  1981-11-12       Impact factor: 49.962

9.  Genetics of human immunoglobulins: assignment of the genes for mu, alpha, and gamma immunoglobulin chains to human chromosome 14.

Authors:  M Shander; J Martinis; C M Croce
Journal:  Transplant Proc       Date:  1980-09       Impact factor: 1.066

10.  Monosomy 22 with mosaicism.

Authors:  M S Moghe; Z M Patel; J J Peter; L M Ambani
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318
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  4 in total

1.  Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  R Zemble; E Luning Prak; K McDonald; D McDonald-McGinn; E Zackai; K Sullivan
Journal:  Clin Immunol       Date:  2010-05-15       Impact factor: 3.969

2.  Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  C A Smith; D A Driscoll; B S Emanuel; D M McDonald-McGinn; E H Zackai; K E Sullivan
Journal:  Clin Diagn Lab Immunol       Date:  1998-05

3.  Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  K E Sullivan; D McDonald-McGinn; D A Driscoll; B S Emanuel; E H Zackai; A F Jawad
Journal:  Clin Diagn Lab Immunol       Date:  1999-11

4.  Expression signature of epidermolysis bullosa simplex.

Authors:  Mbarka Bchetnia; Marie-Lou Tremblay; Georgette Leclerc; Audrey Dupérée; Julie Powell; Catherine McCuaig; Charles Morin; Valérie Legendre-Guillemin; Catherine Laprise
Journal:  Hum Genet       Date:  2011-08-30       Impact factor: 4.132
  4 in total

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