Inborn errors of immunity associated with characteristic phenotypes

Inborn errors of immunity associated with characteristic phenotypes

Blog Article

Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity.Data source: gruvi golden lager The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the last 10 years that allowed the characterization of the several immunological defects included in this group.Data synthesis: Immunodeficiencies with syndromic characteristics include 65 immunological defects in 9 subgroups.The diversity of clinical manifestations is observed in each described disease and may appear early or later, with variable severity.Congenital thrombocytopenia, syndromes with DNA repair defect, immuno-osseous dysplasias, thymic defects, Hyper IgE Syndrome, anhidrotic ectodermal dysplasia with immunodeficiency and purine nucleoside phosphorylase deficiency were addressed.

Conclusions: Immunological defects can present with very different characteristics; however, the occurrence of infectious processes, apac1/60/1/cw autoimmune disorders and progression to malignancy may suggest diagnostic research.In the case of diseases with gene mutations, family history is of utmost importance.