Primary immunodeficiencies: novel genes and unusual presentations.
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ABSTRACT:
SUBMITTER: Notarangelo LD
PROVIDER: S-EPMC6913429 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Primary immunodeficiencies: novel genes and unusual presentations.
Notarangelo Luigi D LD Uzel Gulbu G Rao V Koneti VK
Hematology. American Society of Hematology. Education Program 20191201 1
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 based on increased susceptibility to infections, immune dysregulation has emerged as a frequent and in some cases, predominant phenotype. Autoimmune cytopenias with onset in childhood, lasting longer t ...[more]
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