About: 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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About: 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 Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has 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
Creator	Abinun, Mario Barge, Dawn Abinun, M Bacon, C Bacon, Chris Bourn, David Calonje, E Calonje, Eduardo Kokai, G Kokai, George Mccann, L Mccann, Liza Mcpartland, J Mcpartland, Jo Riordan, Andrew Strain, Lisa Verbov, Julian Wright, Michael Verbov, J Wright, M
Source	Medline; PMC
abstract	We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for RMRP gene mutations should be part of immunological evaluation of patients with ‘severe and/or combined’ T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.
has issue date	2013-11-12(xsd:dateTime)
bibo:doi	10.1007/s10875-013-9962-6
bibo:pmid	24217815
has license	no-cc
sha1sum (hex)	c6a68f7cacaca07aeab83a794b1cc91cab1093ea
schema:url	https://doi.org/10.1007/s10875-013-9962-6
resource representing a document's 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
has PubMed Central identifier	PMC7086599
has PubMed identifier	24217815
schema:publication	J Clin Immunol
resource representing a document's body	covid:c6a68f7cacaca07aeab83a794b1cc91cab1093ea#body_text
is schema:about of	named entity 'processing' named entity 'short stature' named entity 'T cell' named entity 'gene' named entity 'causing' named entity 'patients' named entity 'Cartilage' named entity 'Newcastle' named entity 'small bowel' named entity 'T cell' named entity 'origin' named entity 'immunodeficiency' named entity 'HSCT' named entity 'severe' named entity 'presence' named entity 'time' named entity 'developed' named entity 'skin lesions' named entity 'cartilage hair hypoplasia' named entity 'granulomatous' named entity 'RMRP' named entity 'immunodeficiency' named entity 'endoribonuclease' named entity 'RNase' named entity 'laparotomy' named entity 'Cartilage Hair Hypoplasia' named entity 'Short Stature' named entity 'Newcastle upon Tyne' named entity 'Granulomatous' named entity 'Whilst' named entity 'short stature' named entity 'radiographic' named entity 'CHH' named entity 'ganciclovir' named entity '1, 2' named entity 'clinical features' named entity 'mutation' named entity 'norovirus' named entity 'EBV' named entity 'granulomatous' named entity 'primary immunodeficiencies' named entity 'thymic' named entity 'intravenous' named entity 'mutation' named entity 'serum' named entity 'dysplasia' named entity 'double stranded' named entity 'cartilage hair hypoplasia' named entity 'basal cell carcinoma' named entity 'in-situ hybridization' named entity 'diagnostic process' named entity 'metaphyseal' named entity 'June 2012' named entity 'inflammatory markers' named entity 'adenovirus' named entity 'myeloid' named entity 'Bone marrow failure' named entity 'HHV6' named entity 'IVIg' named entity 'neutropaenia' named entity 'RMRP' named entity 'PCR'

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