Inborn errors of immunity associated with characteristic phenotypes

J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. doi: 10.1016/j.jped.2020.10.015. Epub 2020 Dec 19.


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 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.

Keywords: DNA repair deficiency; Immunodeficiencies; NEMO; PNP; Thymic defect; Wiskott-Aldrich.

Publication types

  • Review

MeSH terms

  • Humans
  • Immunologic Deficiency Syndromes* / genetics
  • Phenotype
  • Primary Immunodeficiency Diseases*
  • Purine-Nucleoside Phosphorylase / genetics
  • Purine-Pyrimidine Metabolism, Inborn Errors*


  • Purine-Nucleoside Phosphorylase