Monogenic polyautoimmunity in primary immunodeficiency diseases

Primary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that affect distinct components of the immune system. PID patients are susceptible to infection and non-infectious complications, particularly autoimmunity. A specific group of monogenic PIDs are due to mutations...

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Autores:

Tipo de recurso:

Fecha de publicación:

2018

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/23289

Acceso en línea:

https://doi.org/10.1016/j.autrev.2018.05.001
https://repository.urosario.edu.co/handle/10336/23289

Palabra clave:

Interleukin 2 receptor alpha
Stat protein
Transcription factor
Transcription factor bch2
Ubiquitin protein ligase e3
Unclassified drug
Signal transducing adaptor protein
Activated phosphoinositide 3 kinase delta syndrome
Autoimmune disease
Autoimmune lymphoproliferative syndrome
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
Autoimmune polyglandular syndrome
Cytotoxic t lymphocyte antigen 4 deficiency
Gene mutation
Haploinsufficiency
Human
Immune deficiency
Ipex syndrome
Itchy e3 ubiquitin protein ligase deficiency
Jak-stat signaling
Lps responsive beige like anchor protein deficiency
Monogenic disorder
Nonhuman
Omenn syndrome
Pathogenesis
Phenotype
Polyautoimmunity
Primary immunodeficiency disease
Protein expression
Protein kinase c delta deficiency
Review
Animal
Autoimmune disease
Genetics
Immune deficiency
Immunological tolerance
Immunology
Mutation
Pathophysiology
Animals
Autoimmune diseases
Humans
Immune tolerance
Immunologic deficiency syndromes
Mutation
Autoimmunity
Ctla4
Ipex
Lrba
Polyautoimmunity
Polyglandular autoimmune syndromes
Primary immunodeficiency
Regulatory t cell
signal transducing
Adaptor proteins

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