Inborn errors of immunity associated with characteristic phenotypes.

ABSTRACT:

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 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

SUBMITTER: Bardou MLD 

PROVIDER: S-EPMC9432272 | biostudies-literature | 2021 Mar-Apr

REPOSITORIES: biostudies-literature