[Nijmegen Breakage syndrome].

Abstract:

:Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and mental retardation. The syndrome is caused by mutations in the NBS1 gene, which encodes a DNA-repair protein, named nibrin. The authors summarize current knowledge on molecular genetics, diagnostic characteristics and therapeutic options of this inborn error of innate immunity.

journal_name

Orv Hetil

journal_title

Orvosi hetilap

authors

Erdos M,Tóth B,Juhász P,Mahdi M,Maródi L

doi

10.1556/OH.2010.28851

subject

Has Abstract

pub_date

2010-04-18 00:00:00

pages

665-73

issue

16

eissn

0030-6002

issn

1788-6120

pii

APH2876736644545

journal_volume

151

pub_type

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    authors: Koó E,Seszták M

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    doi:

    authors: Temesvári A,Kaare S

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  • [Looking back on past decades of vaccinology].

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    authors: Budai J

    更新日期:2002-10-06 00:00:00

  • [Hungarian adaptation of the Pediatric Quality of Life Inventory™ 3.0 Diabetes Module].

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  • [Urinary calcium excretion. (Normal values for urinary calcium/creatinine ratio in Hungary). Multicenter study].

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  • [Fetal damage caused by contraceptive tablets].

    abstract::When taken during pregnancy, the earlier types of contraceptive pills had a direct teratogenic effect on the female fetus, causing the masculinization syndrome. Presently available pills, which are of different composition and given in smaller doses, do not have a direct teratogenic effect when taken during pregnancy...

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  • [Congenital absence of the ductus venosus associated with severe congenital heart malformation--case report and review of the literature].

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  • [Renin and aldosterone determinations in hypertensive patients].

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  • [Barrett esophagus in systemic sclerosis].

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