[Cartilage-hair hypoplasia].
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.
Erdos
Melinda
M
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt. 98. 4032. melinda.erdos@yahoo.com
Tóth
Beáta
B
Almássy
Zsuzsanna
Z
Tímár
László
L
Maródi
László
L
D004722:Endoribonucleases / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000276:immunology; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000276:immunology; D010375:Pedigree; D011110:Polymorphism, Genetic; D011859:Radiography; D013601:T-Lymphocytes
D004722:Endoribonucleases