Inborn errors of immunity associated with characteristic phenotypes

Bardou, Maine Luellah Demaret; Henriques, Marina Teixeira; Grumach, Anete Sevciovic

doi:10.1016/j.jped.2020.10.015

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Review articles • J. Pediatr. (Rio J.) 97 (suppl 1) • Mar-Apr 2021 • https://doi.org/10.1016/j.jped.2020.10.015 copy

Inborn errors of immunity associated with characteristic phenotypes^☆ ☆ Study conducted at Centro Universitário Saúde ABC, Faculdade de Medicina, Serviço de Referência em Doenças Raras, Santo André, São Paulo, SP, Brazil.

Authorship SCIMAGO INSTITUTIONS RANKINGS

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

Syndromes	Examples
Congenital thrombocytopenia	Wiskott-Aldrich syndrome
Other DNA repair defects	Ataxia-telangiectasia
Immune-osseous dysplasia	Cartilage-hair hypoplasia
Thymic defects	Di George syndromes/Velocardiofacial/ Cr.22q11.2deletion
Hyper-IgE Syndrome
Defects of Vitamin B12 and folate metabolism
Anhidrotic ectodermal dysplasia with immune deficiency	NEMO
Others	Purine nucleoside phosphorylase deficiency Calcium Channel Defects

Classification
Typical: 3 major criteria or 2 major and 2 minor
Partial: 2 major and 1 minor criteria
Atypical: 2 major only or 1 major and 2 minor criteria
Major criteria
Coloboma (ocular)
Choanal atresia or stenosis
Hypoplasia or aplasia of semicircular canals
Minor criteria
Rhombencephalic dysfunction (brainstem and cranial nerve abnormalities)
Hypothalamic-pituitary dysfunction
Inner and/or outer ear malformation
Malformation of mediastinal organs (esophagus, heart)
Intellectual disability

Disease	Humoral Immunity	Cell Immunity	Phagocytes
Wiskott-Aldrich syndrome	Normal B lymphocyte Low IgM and low response to polysaccharides Elevated IgA and IgE	T lymphocyte: progressive decrease	Alteration in cell migration and phagocytosis
Ataxia-telangiectasia	Normal or decreased T lymphocyte Decreased B lymphocyte	Decreased IgG, IgA and IgE Normal orelevated IgM	Normal
Nijmegen rupture syndrome	Generally decreased T lymphocyte Decreased B lymphocyte	Decreased IgG, IgA and IgE Normal or elevated IgM	Normal
Bloom syndrome	Normal	Decreased IgG, IgA, IgM and IgA	Normal
Cartilage-hair hypoplasia	Very low T lymphocyte Normal B lymphocyte	Normal ordecreased	Normal ordecreased
Schimke immuno-osseous dysplasia	Decreased T lymphocyte Normal B lymphocyte	Normal or decreased	Normal ordecreased
Di George syndrome	Normal B lymphocytes and immunoglobulins (usually) or decreased	Decreased T lymphocytes (usually) or normal	Normal
CHARGE syndrome	Normal B lymphocytes Normal or decreased immunoglobulins	Decreased or normal T lymphocytes	Normal
Hyper IgE syndromes (STAT3deficiency)	Generally normal B lymphocytes Reduced memory B cells Very high IgE Decreased specific antibodies	Generally normal T lymphocytes Decreased Regulatory T lymphocytes, TH17 and NK	Abnormal maturation and differentiation
Nemo/ IKBKG	Decreased	Decreased	Normal ordecreased
PNP deficiency	Normal Blymphocyte Normal or decreased immunoglobulins	Progressive decrease in T lymphocytes	Neutropenia
Ca⁺⁺channel deficiency	Normal	Normal	Neutropenia

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[1] * Corresponding author. E-mail: asgrumach@gmail.com

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Inborn errors of immunity associated with characteristic phenotypes☆ ☆ Study conducted at Centro Universitário Saúde ABC, Faculdade de Medicina, Serviço de Referência em Doenças Raras, Santo André, São Paulo, SP, Brazil.

Abstract

Objectives:

Data source:

Data synthesis:

Conclusions:

Inborn errors of immunity associated with characteristic phenotypes^☆ ☆ Study conducted at Centro Universitário Saúde ABC, Faculdade de Medicina, Serviço de Referência em Doenças Raras, Santo André, São Paulo, SP, Brazil.