SLNSW-Phenotypic Variations of Cartilage Hair Hypoplasi...-TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

Full title: Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

Author/creator: McCann, Liza J., McPartland, Jo, Barge, Dawn, Strain, Lisa, Bourn, David, Calonje, Eduardo, Verbov, Julian, Riordan, Andrew, Kokai, George, Bacon, Chris M., Wright, Michael, Abinun, Mario.

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Record Identifier: TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

Language: English

Formats: Articles

Publishers: Boston: Springer US

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

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    Record title

    Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

    Record identifier

    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

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    Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

    Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

    Full title

    Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

    Author / Creator

    McCann, Liza J. ; McPartland, Jo ; Barge, Dawn ; Strain, Lisa ; Bourn, David ; Calonje, Eduardo ; Verbov, Julian ; Riordan, Andrew ; Kokai, George ; Bacon, Chris M. ; Wright, Michael ; Abinun, Mario

    Publisher

    Boston: Springer US

    Journal title

    Journal of clinical immunology, 2014, Vol.34 (1), p.42-48

    Record Identifier

    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

    Language

    English

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    Articles

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    Subjects and topics

    Astute Clinician Report Biomedical and Life Sciences Biomedicine Bone and Bones - diagnostic imaging Cartilage-hair hypoplasia Child, Preschool Dermatitis - pathology Dwarfism EBV driven lymphoproliferative disease Female Gene mutations Genes Genetic research Granuloma - pathology granulomatous inflammation Hair - abnormalities Hematopoietic Stem Cell Transplantation - adverse effects Hematopoietic stem cells Hirschsprung Disease - diagnosis Hirschsprung Disease - genetics Hirschsprung Disease - therapy Humans Immunodeficiency Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - therapy Immunology Immunophenotyping Infectious Diseases Inflammation Internal Medicine Medical Microbiology Molecular genetics Monoclonal antibodies Osteochondrodysplasias - congenital Osteochondrodysplasias - diagnosis Osteochondrodysplasias - genetics Osteochondrodysplasias - therapy Phenotype Primary Immunodeficiency Diseases Radiography Receptors, Antigen, T-Cell, alpha-beta - metabolism Ribonuclease RNA RNase mitochondrial RNA processing endoribonuclease severe T cell immunodeficiency Skin Stature, Short T cells T-Lymphocytes - metabolism Transplantation Transplantation, Homologous Treatment Outcome

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    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7086599

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