about
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.Factors influencing success of clinical genome sequencing across a broad spectrum of disordersHypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgEChronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility.Antibody deficiency secondary to chronic lymphocytic leukemia: Should patients be treated with prophylactic replacement immunoglobulin?The role of genomics in common variable immunodeficiency disorders.British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.Three difficult cases: the challenge of autoimmunity, immunodeficiency and recurrent infections in patients with Good syndrome.Establishment of a healthy human range for the whole blood "OX40" assay for the detection of antigen-specific CD4+ T cells by flow cytometry.The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017Identification of CVID Patients With Defects in Immune Repertoire Formation or SpecificationHypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic diseaseSequencing of human genomes with nanopore technologyThe Expanding Field of Secondary Antibody Deficiency: Causes, Diagnosis, and ManagementClassical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblingsDefining B-cell defects and correlation with complications in patients with common variable immune deficiencyCorrection to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT GroupInterstitial lung disease in patients with common variable immunodeficiency disorders: several different pathologies?
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description
investigador
@es
researcher
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name
Smita Y Patel
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type
label
Smita Y Patel
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prefLabel
Smita Y Patel
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P31
P496
0000-0002-6207-2208