Matches in SemOpenAlex for { <https://semopenalex.org/work/W177966329> ?p ?o ?g. }
- W177966329 endingPage "324" @default.
- W177966329 startingPage "281" @default.
- W177966329 abstract "In syndromic immune deficiencies, organ system involvement in addition to the immune system are prominent. Patients may present either with evidence of immune deficiencies or with extra-immune features. Across the different conditions numerous organ systems may be affected, including the skeletal, neurologic, dermatologic, or gastrointestinal systems. Many of these conditions are due to a defect in a single gene, although they may also be caused by developmental abnormalities, chromosomal aberrations, or teratogens. The presence of immune defects in a patient with extra-immune organ system involvement should prompt consideration of whether an underlying genetic syndrome is present. Proper and timely diagnosis of a syndromic immune deficiency is important for assessment of other organ systems, and correct prognosis." @default.
- W177966329 created "2016-06-24" @default.
- W177966329 creator A5043075977 @default.
- W177966329 creator A5043612537 @default.
- W177966329 date "2014-01-01" @default.
- W177966329 modified "2023-09-26" @default.
- W177966329 title "Genetic Syndromes with Evidence of Immune Deficiency" @default.
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