| Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. | |
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MedLine Citation:
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PMID: 20538026 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 into clinical severity. Whereas T-cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome, humoral immunodeficiency has only rarely been noted in these patients. Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency, clinically resembling common variable immunodeficiency. Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g.68_69delinsTT and g.76C>T). Despite the late onset of immunodeficiency in the patient, its clinical course was severe, and the patient died 3 years after the first diagnosis. |
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Authors:
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Julia Horn; Michael Schlesier; Klaus Warnatz; Antje Prasse; Andrea Superti-Furga; Hans-Hartmut Peter; Ulrich Salzer |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-06-09 |
Journal Detail:
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Title: Human immunology Volume: 71 ISSN: 1879-1166 ISO Abbreviation: Hum. Immunol. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-27 Completed Date: 2011-01-31 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8010936 Medline TA: Hum Immunol Country: United States |
Other Details:
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Languages: eng Pagination: 916-9 Citation Subset: IM |
Copyright Information:
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Copyright 2010 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Freiburg, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Agammaglobulinemia / blood Age of Onset Antibodies / blood, immunology Base Sequence / genetics Bone Marrow / pathology Bronchiectasis / pathology Bronchoalveolar Lavage Fluid / microbiology Endoribonucleases / genetics* Fatal Outcome Female Growth Disorders / pathology Hair / abnormalities, immunology, pathology Hand Deformities, Congenital / pathology Hirschsprung Disease / complications, genetics, immunology, pathology Humans Immunologic Deficiency Syndromes / complications*, genetics*, immunology, pathology Lymphocyte Count Male Mutation / genetics Osteochondrodysplasias / complications, congenital, genetics, immunology, pathology Pneumonia / immunology, pathology Sepsis / immunology, pathology Splenomegaly / pathology |
| Chemical | |
Reg. No./Substance:
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0/Antibodies; EC 3.1.-/Endoribonucleases; EC 3.1.-/mitochondrial RNA-processing endoribonuclease |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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