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Publications

Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK.

Shields AM. et al, (2022), Clinical and experimental immunology, 209, 247 - 258

A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease.

Shields AM. et al, (2020), Journal of clinical immunology, 40, 406 - 411

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Taylor J. et al, (2019), Genome Medicine, 11

Sequencing of human genomes with nanopore technology

Bowden R. et al, (2019), Nature Communications, 10

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

Patel S. et al, (2019), Clinical and experimental immunology, 198, 212 - 223

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

Chapel H. and Patel S., (2019), The Journal of allergy and clinical immunology, 144, 654 - 655

A comprehensive characterization of chronic norovirus infection in immunodeficient hosts.

Brown L-AK. et al, (2019), The Journal of allergy and clinical immunology

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

Schütz K. et al, (2019), Journal of clinical immunology, 39, 225 - 227

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

Shields AM. et al, (2019), Frontiers in immunology, 10

Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency

Nademi Z. et al, (2019), Bone Marrow Transplantation, 54, 130 - 133

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

Schütz K. et al, (2019), J Clin Immunol, 39, 45 - 54

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

Patel SY. et al, (2019), Front Immunol, 10

Clinical and laboratory features of seventy-eight UK patients with Good's syndrome (thymoma and hypogammaglobulinaemia).

Zaman M. et al, (2018), Clin Exp Immunol

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

Dorjbal B. et al, (2018), J Allergy Clin Immunol

Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia?

Scheuerlein P. et al, (2018), Frontiers in Immunology, 9

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

Shillitoe B. et al, (2018), Clin Exp Immunol, 192, 284 - 291

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

van Schouwenburg PA. et al, (2018), Front Immunol, 9

The primary immunodeficiency disorders

Shields AM. and Patel SY., (2017), Medicine (United Kingdom), 45, 597 - 604

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.

Hurst JR. et al, (2017), J Allergy Clin Immunol Pract, 5, 938 - 945

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

Schwerd T. et al, (2017), Gut, 66, 1060 - 1073

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