Inborn errors of immunity associated with characteristic phenotypes.

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Inborn Errors of Immunity (IEI) encompass a wide range of genetic disorders affecting the immune system.
• Syndromic immunodeficiencies present with characteristic physical, developmental, or organ-specific abnormalities alongside immune defects.
• Recent classifications have refined the understanding and categorization of these complex conditions.

Purpose of the Study:

• To describe the primary immunodeficiencies with syndromic characteristics.
• To align with the latest classification of Inborn Errors of Immunity.
• To provide a comprehensive overview of this specific group of IEI.

Main Methods:

• Literature search on PubMed focusing on review studies, meta-analyses, systematic reviews, and case reports.
• Inclusion of a randomized study published within the last 10 years.
• Characterization of immunological defects within the syndromic immunodeficiency group.

Main Results:

• Identified 65 distinct immunological defects categorized into 9 subgroups under syndromic immunodeficiencies.
• Highlighted the diverse clinical manifestations, variable severity, and potential early or late onset of these conditions.
• Detailed specific examples including congenital thrombocytopenia, DNA repair defects, immuno-osseous dysplasias, thymic defects, Hyper IgE Syndrome, anhidrotic ectodermal dysplasia with immunodeficiency, and purine nucleoside phosphorylase deficiency.

Conclusions:

• Immunological defects in syndromic IEI present with varied clinical features.
• Infectious processes, autoimmune disorders, and malignancy risk warrant diagnostic investigation.
• Family history is critical for diagnosing genetic mutations underlying these conditions.