Matches in SemOpenAlex for { <https://semopenalex.org/work/W2046059844> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W2046059844 endingPage "46" @default.
- W2046059844 startingPage "46" @default.
- W2046059844 abstract "Hyperimmunoglobulin M (HIGM) type 3 due to <i>CD40</i> deficiency is a very rare syndrome. Only 16 cases have been reported thus far. The clinical presentation is very variable. We present the first case of this rare disorder from India. The case is of a two-and-a-half-year-old female, with a history of repeated episodes of skin infections and diarrhea since birth. Laboratory evaluation revealed elevated absolute lymphocyte count and an absolute neutrophil count (ANC) of 1026/mm <sup>3</sup> . The lymphocyte subset analysis showed normal absolute counts of Natural Killer (NK) cells and elevated absolute counts of T-cells (CD4 and CD8) and B-cells. The serum immunoglobulin estimation showed low levels of IgG, IgA, IgE and an elevated level of IgM. The CD154 analysis was normal and expression of <i>CD40</i> was absent on the B-cells. Molecular analysis showed a novel mutation, with deletion of 3bp (AAG) [p.Glu107GlyfsX84] in the homozygous state, in the <i>CD40</i> gene. Thus the patient was diagnosed as HIGM type 3. The parents were screened and counseled regarding prenatal diagnosis at the time of next pregnancy." @default.
- W2046059844 created "2016-06-24" @default.
- W2046059844 creator A5007775762 @default.
- W2046059844 creator A5029028924 @default.
- W2046059844 creator A5064659418 @default.
- W2046059844 creator A5079970078 @default.
- W2046059844 creator A5088442915 @default.
- W2046059844 date "2015-01-01" @default.
- W2046059844 modified "2023-09-23" @default.
- W2046059844 title "Hyperimmunoglobulin syndrome due to CD40 deficiency: Possibly the first case from India" @default.
- W2046059844 cites W1494122660 @default.
- W2046059844 cites W1501489383 @default.
- W2046059844 cites W2006725662 @default.
- W2046059844 cites W2015388197 @default.
- W2046059844 cites W2030627521 @default.
- W2046059844 cites W2080715914 @default.
- W2046059844 cites W2084109511 @default.
- W2046059844 cites W2104180551 @default.
- W2046059844 cites W2123270790 @default.
- W2046059844 doi "https://doi.org/10.4103/0022-3859.147053" @default.
- W2046059844 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4944369" @default.
- W2046059844 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25511220" @default.
- W2046059844 hasPublicationYear "2015" @default.
- W2046059844 type Work @default.
- W2046059844 sameAs 2046059844 @default.
- W2046059844 citedByCount "3" @default.
- W2046059844 countsByYear W20460598442019 @default.
- W2046059844 countsByYear W20460598442023 @default.
- W2046059844 crossrefType "journal-article" @default.
- W2046059844 hasAuthorship W2046059844A5007775762 @default.
- W2046059844 hasAuthorship W2046059844A5029028924 @default.
- W2046059844 hasAuthorship W2046059844A5064659418 @default.
- W2046059844 hasAuthorship W2046059844A5079970078 @default.
- W2046059844 hasAuthorship W2046059844A5088442915 @default.
- W2046059844 hasBestOaLocation W20460598441 @default.
- W2046059844 hasConcept C126322002 @default.
- W2046059844 hasConcept C141105273 @default.
- W2046059844 hasConcept C159654299 @default.
- W2046059844 hasConcept C203014093 @default.
- W2046059844 hasConcept C2777063308 @default.
- W2046059844 hasConcept C29730261 @default.
- W2046059844 hasConcept C71924100 @default.
- W2046059844 hasConcept C74133956 @default.
- W2046059844 hasConcept C90924648 @default.
- W2046059844 hasConceptScore W2046059844C126322002 @default.
- W2046059844 hasConceptScore W2046059844C141105273 @default.
- W2046059844 hasConceptScore W2046059844C159654299 @default.
- W2046059844 hasConceptScore W2046059844C203014093 @default.
- W2046059844 hasConceptScore W2046059844C2777063308 @default.
- W2046059844 hasConceptScore W2046059844C29730261 @default.
- W2046059844 hasConceptScore W2046059844C71924100 @default.
- W2046059844 hasConceptScore W2046059844C74133956 @default.
- W2046059844 hasConceptScore W2046059844C90924648 @default.
- W2046059844 hasIssue "1" @default.
- W2046059844 hasLocation W20460598441 @default.
- W2046059844 hasLocation W20460598442 @default.
- W2046059844 hasLocation W20460598443 @default.
- W2046059844 hasLocation W20460598444 @default.
- W2046059844 hasOpenAccess W2046059844 @default.
- W2046059844 hasPrimaryLocation W20460598441 @default.
- W2046059844 hasRelatedWork W1988863520 @default.
- W2046059844 hasRelatedWork W1990472928 @default.
- W2046059844 hasRelatedWork W2026887206 @default.
- W2046059844 hasRelatedWork W202973276 @default.
- W2046059844 hasRelatedWork W2048463646 @default.
- W2046059844 hasRelatedWork W2086871979 @default.
- W2046059844 hasRelatedWork W2087982072 @default.
- W2046059844 hasRelatedWork W2165065921 @default.
- W2046059844 hasRelatedWork W2209593772 @default.
- W2046059844 hasRelatedWork W2406090265 @default.
- W2046059844 hasVolume "61" @default.
- W2046059844 isParatext "false" @default.
- W2046059844 isRetracted "false" @default.
- W2046059844 magId "2046059844" @default.
- W2046059844 workType "article" @default.