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