Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
about
Type I/II cytokines, JAKs, and new strategies for treating autoimmune diseasesEosinophilia Associated with Disorders of Immune Deficiency or Immune DysregulationPrimary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestationsMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityThe diagnostic approach to monogenic very early onset inflammatory bowel diseaseMendelian genetics of human susceptibility to fungal infectionAdvances in basic and clinical immunology in 2013Inducible, dose-adjustable and time-restricted reconstitution of STAT1 deficiency in vivoMechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary ImmunodeficienciesUnbalanced Immune System: Immunodeficiencies and AutoimmunityEarly-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutationsPatterns of Allergic Sensitization in High IgE Syndromes.Fifty-five-year-old man with chronic yeast infections.A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine RegulationAutoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatmentCommon Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary ImmunodeficienciesImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency DiseasesCellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.Primary immunodeficiencies underlying fungal infectionsGain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosisAutoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1Clinically relevant dimer interface mutants of STAT1 transcription factor exhibit differential gene expression.Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kindInherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasisPulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic DiseaseThe Ying and Yang of STAT3 in Human DiseaseThe Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With ImmunodeficiProgressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasisPhevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.Ocular involvement in primary immunodeficiency diseases.
P2860
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P2860
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Dominant gain-of-function STAT ...... ropathy-X-linked-like syndrome
@en
type
label
Dominant gain-of-function STAT ...... ropathy-X-linked-like syndrome
@en
prefLabel
Dominant gain-of-function STAT ...... ropathy-X-linked-like syndrome
@en
P2093
P2860
P50
P1476
Dominant gain-of-function STAT ...... ropathy-X-linked-like syndrome
@en
P2093
Alexandra F Freeman
Anahita Agharahimi
Dat Q Tran
Elizabeth P Sampaio
Francisco A Bonilla
Jae Joon Yim
James W Verbsky
Joseph Pechacek
Joshua D Milner
P2860
P304
P356
10.1016/J.JACI.2012.11.054
P407
P577
2013-03-25T00:00:00Z