Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

doi:10.1016/j.humimm.2010.06.002

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Article

Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

Human immunology - 1 Sept 2010

Horn Julia, Schlesier Michael, Warnatz Klaus, Prasse Antje, Superti-Furga Andrea, Peter Hans-Hartmut, Salzer Ulrich

Abstract excerpt

Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of immunologic phenotypes in CHH translates...

Topics

Adult
Agammaglobulinemia
Age of Onset
Antibodies
Base Sequence
Bone Marrow
Bronchiectasis
Bronchoalveolar Lavage Fluid
Endoribonucleases
Fatal Outcome
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Growth Disorders

Hair

Hand Deformities, Congenital

Hirschsprung Disease

Humans

Immunologic Deficiency Syndromes

Lymphocyte Count

Source

Open in PubMed

Identifiers

PMID: 20538026
DOI: 10.1016/j.humimm.2010.06.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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