Literature DB >> 10999879

Rubinstein-Taybi syndrome with humoral and cellular defects: a case report.

A Villella1, D Bialostocky, E Lori, H Meyerson, R W Hostoffer.   

Abstract

The first association of Rubinstein-Taybi syndrome with immunodeficiency and the successful prevention of infection with intravenous IgG is reported in a 4 year old boy. This case suggests that immunodeficiency maybe a prominent feature of this syndrome and may predispose these patients to recurrent infections.

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Year:  2000        PMID： 10999879      PMCID： PMC1718492          DOI： 10.1136/adc.83.4.360

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  10 in total

1.  Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

Authors:  J H RUBINSTEIN; H TAYBI
Journal:  Am J Dis Child       Date:  1963-06

Review 2.  Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.

Authors:  J H Rubinstein
Journal:  Am J Med Genet Suppl       Date:  1990

3.  Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome.

Authors:  A D DePiero; E M Lourie; B W Berman; N H Robin; A B Zinn; R W Hostoffer
Journal:  J Pediatr       Date:  1997-09       Impact factor: 4.406

4.  Rubinstein-Taybi syndrome: a natural history study.

Authors:  C A Stevens; J C Carey; B L Blackburn
Journal:  Am J Med Genet Suppl       Date:  1990

5.  Human interleukin 4 down-regulates the surface expression of CD5 on normal and leukemic B cells.

Authors:  T Defrance; B Vanbervliet; I Durand; J Banchereau
Journal:  Eur J Immunol       Date:  1989-02       Impact factor: 5.532

6.  The Wiskott-Aldrich syndrome. A disorder with a possible defect in antigen processing or recognition.

Authors:  R M Blaese; W Strober; R S Brown; T A Waldmann
Journal:  Lancet       Date:  1968-05-18       Impact factor: 79.321

Review 7.  Immunodeficiency as a component of recognizable syndromes.

Authors:  J E Ming; E R Stiehm; J M Graham
Journal:  Am J Med Genet       Date:  1996-12-30

8.  Rubinstein-Taybi Syndrome with thymic hypoplasia.

Authors:  H Kimura; Y Ito; Y Koda; Y Hase
Journal:  Am J Med Genet       Date:  1993-05-15

Review 9.  Anti-capsular polysaccharide antibody deficiency states.

Authors:  G T Rijkers; L A Sanders; B J Zegers
Journal:  Immunodeficiency       Date:  1993

10.  Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome.

Authors:  F Rivas; R Fragoso; R Ramos-Zepeda; G Vaca; A Hernandez; G Gonzalez-Quiroga; N Olivares; J M Cantu
Journal:  Acta Paediatr Scand       Date:  1980-01
  10 in total

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