Cargando…

Genetic-molecular characterization in the diagnosis of primary immunodeficiencies

OBJECTIVES: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. SOURCE OF DATA: Non-systematic literature review, searchin...

Descripción completa

Detalles Bibliográficos
Autor principal:	Segundo, Gesmar Rodrigues Silva
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9432309/ https://www.ncbi.nlm.nih.gov/pubmed/33121930 http://dx.doi.org/10.1016/j.jped.2020.09.007

Ejemplares similares

Treatment of patients with immunodeficiency: Medication, gene therapy, and transplantation
por: Segundo, Gesmar Rodrigues Silva, et al.
Publicado: (2020)

Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation
por: Cabral-Marques, Otavio, et al.
Publicado: (2019)

Primary immunodeficiency investigation in patients during and after hospitalization in a pediatric Intensive Care Unit
por: Suavinho, Érica, et al.
Publicado: (2014)

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots
por: Collins, Christopher J., et al.
Publicado: (2020)

Growth Parameters Impairment in Patients with Food Allergies
por: Costa, Larissa Carvalho, et al.
Publicado: (2014)

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment
por: Bucciol, Giorgia, et al.
Publicado: (2020)

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots
por: Collins, Christopher J., et al.
Publicado: (2018)

II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies
por: Goudouris, Ekaterini Simões, et al.
Publicado: (2017)

Asian network for molecular diagnosis of primary immunodeficiencies
por: Lau, YL
Publicado: (2011)

Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID
por: Chong-Neto, Herberto Jose, et al.
Publicado: (2022)

Past, present and future molecular diagnosis and characterization of human immunodeficiency virus infections
por: Tang, Yi-Wei, et al.
Publicado: (2012)

Combined immunodeficiency associated DOCK8 mutations
por: Rezende, Marcela, et al.
Publicado: (2015)

DOCK8 deficiency and guillain-barre syndrome
por: Nápolis, Ana Carolina, et al.
Publicado: (2015)

Esophageal eosinophilia in pediatric patients with cerebral palsy
por: de Nápolis, Ana Carolina Ramos, et al.
Publicado: (2015)

Diversity of allergen exposure: Implications for the efficacy of environmental control
por: Segundo, Gesmar Rodrigues Silva, et al.
Publicado: (2015)

Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies
por: Abraham, Roshini S
Publicado: (2011)

Primary immunodeficiency
por: McCusker, Christine, et al.
Publicado: (2011)

Primary immunodeficiency
por: McCusker, Christine, et al.
Publicado: (2018)

Flow Cytometry in the Diagnosis and Follow Up of Human Primary Immunodeficiencies
por: Salzer, Ulrich, et al.
Publicado: (2019)

Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders
por: Chi, Zuo Hua, et al.
Publicado: (2018)

Comment to: II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies. einstein (São Paulo). 2017;15(1):1-16
por: Goudouris, Ekaterini Simões, et al.
Publicado: (2017)

Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders
por: Forlanini, Federica, et al.
Publicado: (2022)

Update in primary immunodeficiencies
por: Leonardi, Lucia, et al.
Publicado: (2020)

Novel Genetic Discoveries in Primary Immunodeficiency Disorders
por: Redmond, Margaret T., et al.
Publicado: (2022)

Zebrafish: A Relevant Genetic Model for Human Primary Immunodeficiency (PID) Disorders?
por: Basheer, Faiza, et al.
Publicado: (2023)

Primary Immunodeficiency Diseases
por: Baltimore, Robert S.
Publicado: (1984)

Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy
por: Roma-Rodrigues, Catarina, et al.
Publicado: (2014)

Clinical characteristics and sensitivity to food and inhalants among children with eosinophilic esophagitis
por: Rodrigues Mariano de Almeida Rezende, Erica, et al.
Publicado: (2014)

Primary immunodeficiencies associated with eosinophilia
por: Navabi, Behdad, et al.
Publicado: (2016)

Primary immunodeficiency diseases in the newborn
por: Ozdemir, Oner
Publicado: (2021)

Tailored therapies for primary immunodeficiencies
por: Cinicola, Bianca, et al.
Publicado: (2021)

Baked egg tolerance: is it possible to predict?()
por: Vilar, Lisis Karine, et al.
Publicado: (2019)

Gene Therapy for Primary Immunodeficiency
por: Houghton, Benjamin C., et al.
Publicado: (2020)

Neurological Manifestations of Primary Immunodeficiencies
por: CHAVOSHZADEH, Zahra, et al.
Publicado: (2018)

The Molecular Evolution of Type 2 Vaccine-Derived Polioviruses in Individuals with Primary Immunodeficiency Diseases
por: Kitamura, Kouichi, et al.
Publicado: (2021)

Advances of gene therapy for primary immunodeficiencies
por: Candotti, Fabio
Publicado: (2016)

Genetic characterization and molecular evolution of type 3 vaccine-derived polioviruses from an immunodeficient patient in China
por: Guo, Qin, et al.
Publicado: (2023)

Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies
por: Rispoli, Francesco, et al.
Publicado: (2021)

Primary Immunodeficiencies
Publicado: (2008)

Genetic defects in common variable immunodeficiency
por: Kopecký, O, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_k4cnc1p2s72hugk3ug4ilgv7mf