Spectrum of Phenotypes Associated with Mutations in LRBA.
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Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesAutoimmunity in primary T-cell immunodeficiencies.Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and ImmunodeficiencyChildhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.LRBA is Essential for Allogeneic Responses in Bone Marrow TransplantationClinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children.Genes associated with common variable immunodeficiency: one diagnosis to rule them all?Monogenic mutations associated with IgA deficiency.CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.Lung Disease in Primary Antibody Deficiencies.An Update on the Use of Immunomodulators in Primary Immunodeficiencies.Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.Genetic cause of immune dysregulation - one gene or two?The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation.Immunological phenotype of the murine Lrba knockout.Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.Creatine maintains intestinal homeostasis and protects against colitisMultiple Presentations of LRBA Deficiency: a Single-Center Experience.Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.LRBA Gene Polymorphisms and Risk of Coal Workers' Pneumoconiosis: A Case-Control Study from China.Hematopoietic cell transplantation in primary immunodeficiency - conventional and emerging indications.Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation."Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.Collaborating genomic, transcriptomic and microbiomic alterations lead to canine extreme intestinal polyposisThe classification, genetic diagnosis and modelling of monogenic autoinflammatory disordersLRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental IsodisomyLRBA in the endomembrane systemClinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
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P2860
Spectrum of Phenotypes Associated with Mutations in LRBA.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Spectrum of Phenotypes Associated with Mutations in LRBA.
@en
type
label
Spectrum of Phenotypes Associated with Mutations in LRBA.
@en
prefLabel
Spectrum of Phenotypes Associated with Mutations in LRBA.
@en
P2093
P2860
P50
P1476
Spectrum of Phenotypes Associated with Mutations in LRBA
@en
P2093
Iraj Mohammadzadeh
Janet Chou
Kasper Krogh Andersen
Lennart Hammarström
Mariam A El-Rajab
Michel Massaad
Omar K Alkhairy
Raif S Geha
Zahra Chavoshzadeh
P2860
P2888
P356
10.1007/S10875-015-0224-7
P577
2015-12-28T00:00:00Z
P6179
1003923192