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Antibody deficiency secondary to chronic lymphocytic leukemia: Should patients be treated with prophylactic replacement immunoglobulin?

artículo científico

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.

artículo científico publicado en 2017

Chronic 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

artículo científico publicado en 2015

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

artículo científico publicado en 2019

Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

artículo científico publicado en 2019

Defining B-cell defects and correlation with complications in patients with common variable immune deficiency

scientific article published on 29 June 2019

Dissecting the role of eosinophil cationic protein in upper airway disease

artículo científico publicado el 1 de febrero de 2012

Establishment of a healthy human range for the whole blood "OX40" assay for the detection of antigen-specific CD4+ T cells by flow cytometry

artículo científico publicado en 2014

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

artículo científico publicado en 2015

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

artículo científico publicado en 2017

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

artículo científico publicado en 2018

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

artículo científico publicado en 2015

Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification

artículo científico publicado en 2018

Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.

artículo científico publicado en 2014

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

artículo científico publicado en 2016

Interstitial lung disease in patients with common variable immunodeficiency disorders: several different pathologies?

scientific article published on 10 July 2019

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

artículo científico publicado en 2011

Sequencing of human genomes with nanopore technology

artículo científico publicado en 2019

The Expanding Field of Secondary Antibody Deficiency: Causes, Diagnosis, and Management

artículo científico publicado en 2019

The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017

artículo científico publicado en 2018

The role of genomics in common variable immunodeficiency disorders

artículo científico publicado en 2017

Three difficult cases: the challenge of autoimmunity, immunodeficiency and recurrent infections in patients with Good syndrome

artículo científico publicado en 2015

Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

artículo científico publicado en 2016