Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308907037> ?p ?o ?g. }
Showing items 1 to 52 of
52
with 100 items per page.
- W4308907037 endingPage "S135" @default.
- W4308907037 startingPage "S135" @default.
- W4308907037 abstract "<h3>Introduction</h3> Combined immunodeficiency syndromes constitute a group of inherited immune disorders characterized by diminished lymphocyte number and function. Late onset combined immunodeficiency can be difficult to diagnose as patients initially have a less severe phenotype compared to their SCID counterparts. Here we describe a case of an atypical presentation of late onset combined immunodeficiency due to a hemizygous IL-2 receptor gamma (IL-2Rg) mutation. <h3>Case</h3> The patient is a 41-year-old male with a 25-year history of recurrent cutaneous warts of the hands and feet. At the age of 36 he developed perianal condylomata acuminata that later developed into squamous cell carcinoma. He reported no history of recurrent sinopulmonary infection, atopic disease, or autoimmunity. Immune phenotyping demonstrated normal B- and NK cell counts but CD4+ T-cell lymphopenia with poor proliferation to antigenic stimulation. Total immunoglobulins were normal but without vaccine responses. Genetic testing revealed a hemizygous variant of unknown significance in IL2Rg gene. NK cell cytotoxicity assay showed suboptimal cytotoxicity and CD8+ T-cells exhibited impaired pSTAT5 confirming the likely pathogenicity of this variant. <h3>Discussion</h3> IL-2 plays a critical role in the activation among a host of T-cells and NK cells. Deleterious mutations of the IL-2Rg gene are associated with X-linked SCID displaying a T−B+NK− phenotype. Milder phenotypes have been reported with hypomorphic mutations of IL-2Rg, with a recent report describing recurrent cutaneous warts and respiratory infections in two brothers with splice site mutations. This patient's chronic HPV infection resulted in malignant sequalae, highlighting the importance for awareness of the phenotypic heterogeneity that can occur in X-linked SCID." @default.
- W4308907037 created "2022-11-19" @default.
- W4308907037 creator A5016328862 @default.
- W4308907037 creator A5028351694 @default.
- W4308907037 date "2022-11-01" @default.
- W4308907037 modified "2023-09-25" @default.
- W4308907037 title "ATYPICAL PRESENTATION OF X-LINKED IL-2 RECEPTOR GAMMA MUTATION CHARACTERIZED BY RECURRENT CUTANEOUS AND GENITAL WARTS" @default.
- W4308907037 doi "https://doi.org/10.1016/j.anai.2022.08.895" @default.
- W4308907037 hasPublicationYear "2022" @default.
- W4308907037 type Work @default.
- W4308907037 citedByCount "0" @default.
- W4308907037 crossrefType "journal-article" @default.
- W4308907037 hasAuthorship W4308907037A5016328862 @default.
- W4308907037 hasAuthorship W4308907037A5028351694 @default.
- W4308907037 hasConcept C104317684 @default.
- W4308907037 hasConcept C167672396 @default.
- W4308907037 hasConcept C203014093 @default.
- W4308907037 hasConcept C2777607303 @default.
- W4308907037 hasConcept C2779468541 @default.
- W4308907037 hasConcept C54355233 @default.
- W4308907037 hasConcept C71924100 @default.
- W4308907037 hasConcept C86803240 @default.
- W4308907037 hasConcept C8891405 @default.
- W4308907037 hasConceptScore W4308907037C104317684 @default.
- W4308907037 hasConceptScore W4308907037C167672396 @default.
- W4308907037 hasConceptScore W4308907037C203014093 @default.
- W4308907037 hasConceptScore W4308907037C2777607303 @default.
- W4308907037 hasConceptScore W4308907037C2779468541 @default.
- W4308907037 hasConceptScore W4308907037C54355233 @default.
- W4308907037 hasConceptScore W4308907037C71924100 @default.
- W4308907037 hasConceptScore W4308907037C86803240 @default.
- W4308907037 hasConceptScore W4308907037C8891405 @default.
- W4308907037 hasIssue "5" @default.
- W4308907037 hasLocation W43089070371 @default.
- W4308907037 hasOpenAccess W4308907037 @default.
- W4308907037 hasPrimaryLocation W43089070371 @default.
- W4308907037 hasRelatedWork W1506984959 @default.
- W4308907037 hasRelatedWork W188736551 @default.
- W4308907037 hasRelatedWork W1996516426 @default.
- W4308907037 hasRelatedWork W2046560815 @default.
- W4308907037 hasRelatedWork W2159245911 @default.
- W4308907037 hasRelatedWork W261944363 @default.
- W4308907037 hasRelatedWork W2981971864 @default.
- W4308907037 hasRelatedWork W3013988388 @default.
- W4308907037 hasRelatedWork W3214202288 @default.
- W4308907037 hasRelatedWork W3216721207 @default.
- W4308907037 hasVolume "129" @default.
- W4308907037 isParatext "false" @default.
- W4308907037 isRetracted "false" @default.
- W4308907037 workType "article" @default.