[Cartilage-hair hypoplasia]

Orv Hetil. 2008 Feb 3;149(5):209-17. doi: 10.1556/OH.2008.28256.
[Article in Hungarian]

Abstract

Cartilage-hair hypoplasia is a rare, autosomal recessive primary immunodeficiency disorder characterized by predominantly T-cell deficiency and metaphyseal chondrodysplasia. The authors summarize current knowledge on molecular genetics, diagnostic characteristics and therapeutic options of this inherited immunodeficiency.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Endoribonucleases / genetics*
  • Humans
  • Immunologic Deficiency Syndromes* / complications
  • Immunologic Deficiency Syndromes* / diagnosis
  • Immunologic Deficiency Syndromes* / genetics
  • Immunologic Deficiency Syndromes* / immunology
  • Infant
  • Limb Deformities, Congenital* / genetics
  • Limb Deformities, Congenital* / immunology
  • Male
  • Mutation*
  • Osteochondrodysplasias* / complications
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / diagnostic imaging
  • Osteochondrodysplasias* / genetics
  • Osteochondrodysplasias* / immunology
  • Pedigree
  • Polymorphism, Genetic
  • Radiography
  • T-Lymphocytes

Substances

  • Endoribonucleases