Matches in SemOpenAlex for { <https://semopenalex.org/work/W2901520110> ?p ?o ?g. }
Showing items 1 to 68 of
68
with 100 items per page.
- W2901520110 abstract "Introduction T-B+NK+ Severe Combined Immunodeficiency (SCID) due to mutations in the genes encoding the IL-7 receptor represent about 10% of American SCID cases. We report a patient found to have a c.675C>A (p.Tyr225*) homozygous mutation in exon 5. This variant is not present in population databases, and has not been reported in the literature in individuals with IL-7 receptor disease. Case Description Our medical center received a referral for abnormal T-cell receptor excision circle (TREC) results on a newborn screen. The patient's mother had an uncomplicated pregnancy, and there was no consanguinity or family history concerning for a primary immune deficiency. Lymphocyte subsets revealed an absence of T cells, along with present, but diminished B-cells and Natural-Killer cells. The patient had an absent thymic shadow on chest X-ray. He was also found to have poor mitogenic responses. FISH for DiGeorge syndrome was negative for deletions in 22q11.2 and 22q13, and testing for ADA deficiency was negative. Genetic testing resulted in a c.675C>A (p.Tyr225*) homozygous mutation. The patient has had a confirmed infection with Rhinovirus. He is currently on bacterial and fungal prophylaxis, and receiving immune globulin while awaiting bone marrow transplantation. Discussion A homozygous mutation in IL7R, Exon 5, c.675C>A (p.Tyr225*) creates a premature translational stop signal in the IL7R gene, resulting in an absent or disrupted protein product. Loss of function variants of IL7R are known to be pathogenic. This case reinforces the need for researchers to functionally evaluate all mutations found in patients." @default.
- W2901520110 created "2018-11-29" @default.
- W2901520110 creator A5039160316 @default.
- W2901520110 creator A5087680211 @default.
- W2901520110 date "2018-11-01" @default.
- W2901520110 modified "2023-09-24" @default.
- W2901520110 title "NEW PATHOGENIC VARIANT ON IL-7R GENE ASSOCIATED WITH SCID" @default.
- W2901520110 doi "https://doi.org/10.1016/j.anai.2018.09.366" @default.
- W2901520110 hasPublicationYear "2018" @default.
- W2901520110 type Work @default.
- W2901520110 sameAs 2901520110 @default.
- W2901520110 citedByCount "0" @default.
- W2901520110 crossrefType "journal-article" @default.
- W2901520110 hasAuthorship W2901520110A5039160316 @default.
- W2901520110 hasAuthorship W2901520110A5087680211 @default.
- W2901520110 hasConcept C104317684 @default.
- W2901520110 hasConcept C123982805 @default.
- W2901520110 hasConcept C203014093 @default.
- W2901520110 hasConcept C2776090121 @default.
- W2901520110 hasConcept C2777607303 @default.
- W2901520110 hasConcept C2779019163 @default.
- W2901520110 hasConcept C2779468541 @default.
- W2901520110 hasConcept C2908647359 @default.
- W2901520110 hasConcept C36823959 @default.
- W2901520110 hasConcept C501734568 @default.
- W2901520110 hasConcept C54355233 @default.
- W2901520110 hasConcept C71924100 @default.
- W2901520110 hasConcept C75563809 @default.
- W2901520110 hasConcept C79484868 @default.
- W2901520110 hasConcept C86803240 @default.
- W2901520110 hasConcept C8891405 @default.
- W2901520110 hasConcept C96777560 @default.
- W2901520110 hasConcept C99454951 @default.
- W2901520110 hasConceptScore W2901520110C104317684 @default.
- W2901520110 hasConceptScore W2901520110C123982805 @default.
- W2901520110 hasConceptScore W2901520110C203014093 @default.
- W2901520110 hasConceptScore W2901520110C2776090121 @default.
- W2901520110 hasConceptScore W2901520110C2777607303 @default.
- W2901520110 hasConceptScore W2901520110C2779019163 @default.
- W2901520110 hasConceptScore W2901520110C2779468541 @default.
- W2901520110 hasConceptScore W2901520110C2908647359 @default.
- W2901520110 hasConceptScore W2901520110C36823959 @default.
- W2901520110 hasConceptScore W2901520110C501734568 @default.
- W2901520110 hasConceptScore W2901520110C54355233 @default.
- W2901520110 hasConceptScore W2901520110C71924100 @default.
- W2901520110 hasConceptScore W2901520110C75563809 @default.
- W2901520110 hasConceptScore W2901520110C79484868 @default.
- W2901520110 hasConceptScore W2901520110C86803240 @default.
- W2901520110 hasConceptScore W2901520110C8891405 @default.
- W2901520110 hasConceptScore W2901520110C96777560 @default.
- W2901520110 hasConceptScore W2901520110C99454951 @default.
- W2901520110 hasLocation W29015201101 @default.
- W2901520110 hasOpenAccess W2901520110 @default.
- W2901520110 hasPrimaryLocation W29015201101 @default.
- W2901520110 hasRelatedWork W1970882393 @default.
- W2901520110 hasRelatedWork W1994525400 @default.
- W2901520110 hasRelatedWork W1995087288 @default.
- W2901520110 hasRelatedWork W1996516426 @default.
- W2901520110 hasRelatedWork W2009325186 @default.
- W2901520110 hasRelatedWork W2070543554 @default.
- W2901520110 hasRelatedWork W2901520110 @default.
- W2901520110 hasRelatedWork W2920933612 @default.
- W2901520110 hasRelatedWork W3031686931 @default.
- W2901520110 hasRelatedWork W3107592189 @default.
- W2901520110 isParatext "false" @default.
- W2901520110 isRetracted "false" @default.
- W2901520110 magId "2901520110" @default.
- W2901520110 workType "article" @default.