About: Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

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About: Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB
Creator	Pignata, Claudio Al-Mousa, Hamoud Alkhamis, Nouf Alsum, Zobaida Alangari, Abdullah Alkuraya, Fowzan Alsalemi, Abdulkareem Alzahrani, Alsum Alzahrani, Mofareh Massaad, Michel Shamseldin, Hanan
Source	Medline; PMC
abstract	Background: Inhibitor of kappa kinase 2 (IKK2) deficiency is a recently described combined immunodeficiency. It undermines the nuclear factor-kappa B (NF-κB) activation pathway. Methods: The clinical and immunological data of four patients diagnosed with combined immunodeficiency (CID) from two related Saudi families were collected. Autozygosity mapping of all available members and whole exome sequencing of the index case were performed to define the genetic etiology. Results: The patients had early onset (2–4 months of age) severe infections caused by viruses, bacteria, mycobacteria, and fungi. They all had hypogammaglobulinemia and low absolute lymphocyte count. Their lymphocytes failed to respond to PHA mitogen stimulation. A novel homozygous non-sense mutation in the IKBKB gene, c.850C>T (p. Arg284*) was identified in the index patient and segregated with the disease in the rest of the family. He underwent hematopoietic stem cell transplantation (HSCT) from a fully matched sibling with no conditioning. The other three patients succumbed to their disease. Interestingly, all patients had delayed umbilical cord separation. Conclusion: IKK2 deficiency causes CID with high mortality. Immune reconstitution with HSCT should be considered as early as possible. Delayed umbilical cord separation in CID patients may be a clue to IKK2 deficiency.
has issue date	2020-02-14(xsd:dateTime)
bibo:doi	10.3389/fped.2020.00009
bibo:pmid	32117824
has license	cc-by
sha1sum (hex)	2f38704ef0009750d4c48d1cd7ac81e898023527
schema:url	https://doi.org/10.3389/fped.2020.00009
resource representing a document's title	Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB
has PubMed Central identifier	PMC7034298
has PubMed identifier	32117824
schema:publication	Front Pediatr
resource representing a document's body	covid:2f38704ef0009750d4c48d1cd7ac81e898023527#body_text
is schema:about of	named entity 'kinase' named entity 'COMBINED IMMUNODEFICIENCY' named entity 'BACKGROUND' named entity 'DEFICIENCY' named entity 'KINASE' named entity 'IS A' named entity 'KAPPA' named entity 'INHIBITOR' named entity 'NUCLEAR FACTOR-KAPPA B' named entity 'CORD' named entity 'PATHWAY' named entity 'BAB' named entity 'MULTIPLE FAMILY MEMBERS' named entity 'ARTICLE' named entity 'NOVEL MUTATION' named entity 'IKBKB' named entity 'RECENTLY' named entity 'ACTIVATION' named entity 'DESCRIBED' named entity 'COMBINED IMMUNODEFICIENCY' named entity 'DELAYED' named entity 'HSCT' named entity 'anergic' named entity 'Inhibitor' named entity 'Members' named entity 'NF-κB' named entity 'GVHD' named entity 'HSCT' named entity 'ectodermal dysplasia' named entity 'prophylaxis' named entity 'IκB' named entity 'IKK2' named entity 'mutation' named entity 'immunological' named entity 'IKK2' named entity 'NF-kB' named entity 'IκB' named entity 'BCG' named entity 'neutrophil' named entity 'Written consent' named entity 'neutrophil' named entity 'IKK2' named entity '10/10' named entity 'non-sense' named entity 'severe infections' named entity 'leukocyte' named entity 'leukocyte adhesion deficiency' named entity 'immunodeficiency' named entity 'neutrophil' named entity 'modifier genes' named entity 'hypogammaglobulinemia' named entity 'NF-kB' named entity 'hepatosplenomegaly' named entity 'Autozygosity' named entity 'legal guardian' named entity 'non-myeloablative' named entity 'nucleus' named entity 'IKBKB' named entity 'homozygous' named entity 'absolute lymphocyte count' named entity 'lymphoproliferative' named entity 'IKK2' named entity 'GOF' named entity 'mutation' named entity 'CNS' named entity 'assay' named entity 'gain-of-function' named entity 'ectodermal dysplasia' named entity 'cytoplasm' named entity 'IKK2' named entity 'umbilical cord'

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