Primary immunodeficiencies: novel genes and unusual presentations

Recent advances in genomics have greatly expanded the spectrum of primary immune deficiencies (PIDs). Along with the identification of pathogenic variants in novel genes, distinct phenotypes have been associated with different variants in the same gene. Although PIDs have been historically defined b...

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Bibliographische Detailangaben
Veröffentlicht in:Hematology Am Soc Hematol Educ Program
Hauptverfasser: Notarangelo, Luigi D., Uzel, Gulbu, Rao, V. Koneti
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2019
Schlagworte:
Primary Immunodeficiencies: Finding the Needle in the Haystack
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913429/
https://ncbi.nlm.nih.gov/pubmed/31808899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/hematology.2019000051
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