Inborn errors of immunity associated with characteristic phenotypes

Inborn errors of immunity associated with characteristic phenotypes

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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: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic Jurassic Park 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 Plant Pots 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, autoimmune disorders and progression to malignancy may suggest diagnostic research.

In the case of diseases with gene mutations, family history is of utmost importance.