Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review
Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the LRBA gene. These mutations usually abrogate the protein expression of LRBA, leading to a broad spectrum of clinical phenotypes i...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2019
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/22225
- Acceso en línea:
- https://doi.org/10.1016/j.jaip.2019.04.011
https://repository.urosario.edu.co/handle/10336/22225
- Palabra clave:
- ADP ribosyl cyclase/cyclic ADP ribose hydrolase 1
Azathioprine
CD19 antigen
CD27 antigen
CD45RA antigen
CD45RO antigen
Complement component C3d receptor
Corticosteroid
Cyclosporine
Immunoglobulin
Immunoglobulin A
Immunoglobulin D
Immunoglobulin M
Mycophenolate mofetil
Rapamycin
Salazosulfapyridine
Steroid
Tacrolimus
Arab
Article
Autoimmune disease
B lymphocyte subpopulation
CD4 lymphocyte count
Chronic diarrhea
Clinical evaluation
Clinical feature
Delayed diagnosis
Drug megadose
Enteropathy
Gastrectomy
Gene
Gene mutation
Genetic screening
Genotype phenotype correlation
Hematopoietic stem cell transplantation
Hormone substitution
Human
Idiopathic thrombocytopenic purpura
Immune deficiency
Immune dysregulation
Immunoglobulin blood level
Immunoglobulin deficiency
Inflammation
Iranian people
Low drug dose
LPS responsive and beige like anchor protein deficiency
LRBA gene
Multiple organ failure
Nephroblastoma
Pancytopenia
Patient care planning
Pneumonia
Protein deficiency
Protein expression
Recurrent infection
Regulatory T lymphocyte
Respiratory failure
Sepsis
Septic shock
Splenomegaly
Stomach adenocarcinoma
Systematic review
Systemic inflammatory response syndrome
Turk (people)
Autoimmunity
Enteropathy
Hematopoietic stem cell transplantation
LRBA deficiency
Polyautoimmunity
Regulatory T cell
- Rights
- License
- Abierto (Texto Completo)