Immunological deficiencies: more frequent than they seem to be

Barreto, Irma Cecília Douglas Paes; Barreto, Bruno Acatauassú Paes; Cavalcante, Érica Gomes do Nascimento; Condino‐Neto, Antônio

doi:10.1016/j.jped.2020.10.009

Cited by 5 publications

(2 citation statements)

References 21 publications

(31 reference statements)

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“…Inborn errors of immunity (IEI) are a group of phenotypically and genetically diverse disorders characterized by monogenic defects affecting human immunity 1 . Patients with IEI have an increased susceptibility to infections, autoimmunity, autoinflammation, allergy, and the development of malignancies 2 , 3 . Accurate diagnosis of these conditions is essential for tailoring management protocols.…”

Section: Introductionmentioning

confidence: 99%

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India

Rawat

Sharma

Vignesh

et al. 2022

Sci Rep

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Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that include primary immunodeficiency’s and other disorders affecting different aspects of the immune system. Next-Generation Sequencing (NGS) is an essential tool to diagnose IEI. We report our 3-year experience in setting up facilities for NGS for diagnosis of IEI in Chandigarh, North India. We used a targeted, customized gene panel of 44 genes known to result in IEI. Variant analysis was done using Ion Reporter software. The in-house NGS has enabled us to offer genetic diagnoses to patients with IEI at minimal costs. Of 121 patients who were included pathogenic variants were identified in 77 patients. These included patients with Chronic Granulomatous Disease, Severe Combined Immune Deficiency, leukocyte adhesion defect, X-linked agammaglobulinemia, Ataxia Telangiectasia, Hyper-IgE syndrome, Wiskott Aldrich syndrome, Mendelian susceptibility to mycobacterial diseases, Hyper-IgM syndrome, autoimmune lymphoproliferative syndrome, and GATA-2 deficiency. This manuscript discusses the challenges encountered while setting up and running targeted NGS for IEI in our unit. Genetic diagnosis has helped our patients with IEI in genetic counselling, prenatal diagnosis, and accessing appropriate therapeutic options.

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Section: Introductionmentioning

confidence: 99%

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India

Rawat

Sharma

Vignesh

et al. 2022

Sci Rep

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“…Tabela 1 -10 Sinais de alerta para IDPs, adaptados para o Brasil (Adultos e Crianças) Adaptado de ASBAI/BRAGID (www.asbai.org.br / www.bragid.org.br) Em geral, a incidência das IDPs é apenas estimada, mas estudos recentes têm demonstrado que elas podem ser muito mais comuns do que se pensava, o que podemos perceber com o número crescente de pacientes diagnosticados por todo mundo e os novos genes constantemente identificados, como apresentado na Figura 1 B [4,18]. A última estimativa da prevalência de IDPs afirma que, entre 1-2% da população mundial apresenta algum tipo de IDP [19], e que pode ser ainda maior em populações com alta taxa de consanguinidade ou geneticamente isoladas [7].…”

Section: Lista De Ilustraçõesunclassified

Estudo epidemiológico sobre a Doença Granulomatosa Crônica (DGC): Características clínicas e demográficas

Oliveira¹

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Oliveira, T.S. Epidemiological study on Chronic Granulomatous Disease (CGD): Clinical and demographic characteristics. Chronic Granulomatous Disease (CGD) is a primary immunodeficiency characterized by a deficiency in the production of reactive oxygen species (ROS) due to deleterious genetic variants in one of the genes (e.g., CYBB, CYBA, NCF1, NCF2 and NCF4) that encode the proteins of the NADPH oxidase complex, resulting in defective microbicidal activity and susceptibility to infections. It presents the X-linked (CYBB) and autosomal recessive forms, both with onset of manifestations in the first 2 years of life. Larger-scale epidemiological studies on CGD in Brazil are rare and the characterization of these patients within a continental block with similar physical and geopolitical characteristics is of special importance for their understanding and dissemination. Therefore, this study aimed to determine the clinical, geospatial, molecular and genetics characteristics of 238 patients with CGD, 196 males and 42 females from 8 countries (Mexico,

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Zur Genetik angeborener Krankheiten des Immunsystems

Atschekzei

Schürmann

2022

Z Rheumatol

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Immunological deficiencies: more frequent than they seem to be

Cited by 5 publications

References 21 publications

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India

Estudo epidemiológico sobre a Doença Granulomatosa Crônica (DGC): Características clínicas e demográficas

Zur Genetik angeborener Krankheiten des Immunsystems

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