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List of works by Smita Y Patel

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

scientific article published on 21 February 2014

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. ⬇️

scientific article published on 25 March 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

scientific article published on December 2015

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

scientific article published on 7 June 2019

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

scientific article published on 01 February 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 ⬇️

scientific article published on February 1, 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

scientific article published on 14 May 2014

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

scientific article

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

scientific article published on 5 July 2017

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

scientific article published on 28 August 2018

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

scientific article published on 8 December 2015

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

scientific article published on 23 November 2018

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

scientific article

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

scientific article published on 7 March 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.

scientific article

Sequencing of human genomes with nanopore technology

scientific article published on 23 April 2019

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

scientific article published on 08 February 2019

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

scientific article published on 01 June 2018

The role of genomics in common variable immunodeficiency disorders

scientific article

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

scientific article published on 5 February 2015

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

scientific article published on 14 July 2016

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