Literature DB >> 6970848

Immunologic studies of cartilage-hair hypoplasia in the Amish.

J E Trojak, S H Polmar, J A Winkelstein, S Hsu, C Francomano, G F Pierce, J J Scillian, A N Gale, V A McKusick.   

Abstract

The immunologic status of 18 Old Order Amish persons with cartilage-hair hypoplasia and 9 unaffected sibs was studied. Although none of the subjects had a history suggestive of persistent immune dysfunction, the subjects with cartilage-hair hypoplasia had significantly lower lymphocyte mitogenic and allogeneic cell stimulation responses when compared to unaffected sibs and unrelated control subjects. The abnormalities of cellular immune function found in the 18 affected subjects were similar to those reported in Finnish subjects with cartilage-hair hypoplasia.

Entities:  

Mesh:

Year:  1981        PMID: 6970848

Source DB:  PubMed          Journal:  Johns Hopkins Med J        ISSN: 0021-7263


  12 in total

1.  Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

Authors:  O Mäkitie
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.

Authors:  L Yel; S Aggarwal; S Gupta
Journal:  J Clin Immunol       Date:  1999-11       Impact factor: 8.317

3.  Dis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAs.

Authors:  Mehdi Pirouz; Peng Du; Marzia Munafò; Richard I Gregory
Journal:  Cell Rep       Date:  2016-08-04       Impact factor: 9.423

4.  Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency.

Authors:  G H Ashby; D I Evans
Journal:  J R Soc Med       Date:  1986-02       Impact factor: 5.344

Review 5.  Cartilage-hair hypoplasia.

Authors:  O Mäkitie; T Sulisalo; A de la Chapelle; I Kaitila
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

6.  Low segregation ratios in autosomal recessive disorders.

Authors:  J C Oosterwijk
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

7.  Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth.

Authors:  G F Pierce; S H Polmar
Journal:  Clin Exp Immunol       Date:  1982-12       Impact factor: 4.330

8.  Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia.

Authors:  G F Pierce; C Brovall; B Z Schacter; S H Polmar
Journal:  J Clin Invest       Date:  1983-06       Impact factor: 14.808

9.  Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.

Authors:  O Mäkitie; I Kaitila
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

10.  Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Authors:  Luisa Bonafé; Emmanouil T Dermitzakis; Sheila Unger; Cheryl R Greenberg; Belinda A Campos-Xavier; Andreas Zankl; Catherine Ucla; Stylianos E Antonarakis; Andrea Superti-Furga; Alexandre Reymond
Journal:  PLoS Genet       Date:  2005-10       Impact factor: 5.917

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