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Combined immunodeficiencies
Aranda, Carolina Sanchez; Guimarães, Rafaela Rola; Pimentel, Mariana de Gouveia-Pereira.
  • Aranda, Carolina Sanchez; Universidade Federal de São Paulo. Departamento de Pediatria. São Paulo. BR
  • Guimarães, Rafaela Rola; Universidade Federal de São Paulo. Departamento de Pediatria. São Paulo. BR
  • Pimentel, Mariana de Gouveia-Pereira; Universidade Federal de São Paulo. Departamento de Pediatria. São Paulo. BR
J. pediatr. (Rio J.) ; 97(supl.1): 39-48, Mar.-Apr. 2021. tab, graf
Article in English | LILACS | ID: biblio-1250227
ABSTRACT
Abstract

Objectives:

Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune response components. The main clinical manifestations comprise increased susceptibility to infections, autoimmunity, inflammation, allergies and malignancies. The aim of this article is to review the literature on combined immunodeficiencies (CIDs) focusing on the diagnosis and treatment and the particularities of the clinical management of these patients. Source of data Critical integrative review, aimed to present articles related to primary immunodeficiencies combined with a searchin the PubMed and SciELO databases, with evaluation of publications from the last twenty years that were essential for the construction of knowledge on this group of diseases. Summary of data We highlight the main characteristics of CIDs, dividing them according to their pathophysiological mechanisms, such as defects in the development of T cells, TCR signaling, co-stimulatory pathways, cytokine signaling, adhesion, migration and organization of the cytoskeleton, apoptosis pathways, DNA replication and repair and metabolic pathways. In CIDs, clinical manifestations vary widely, from sinopulmonary bacterial infections and diarrhea to opportunistic infections, caused by mycobacteria and fungi. Neonatal screening makes it possible to suspect these diseases before clinical manifestations appear.

Conclusions:

The CIDs or IEI constitute a complex group of genetic diseases with T-cell involvement. Neonatal screening for these diseases has improved the prognosis of these patients, especially in severe ones, known as SCIDs.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Severe Combined Immunodeficiency / Immunologic Deficiency Syndromes Type of study: Prognostic study Limits: Humans / Infant, Newborn Language: English Journal: J. pediatr. (Rio J.) Journal subject: Pediatrics Year: 2021 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Federal de São Paulo/BR

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Full text: Available Index: LILACS (Americas) Main subject: Severe Combined Immunodeficiency / Immunologic Deficiency Syndromes Type of study: Prognostic study Limits: Humans / Infant, Newborn Language: English Journal: J. pediatr. (Rio J.) Journal subject: Pediatrics Year: 2021 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Federal de São Paulo/BR