H. Alachkar

发表

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Long-Term Therapeutic Plasma Exchange to Prevent End-Stage Kidney Disease in Adult Severe Resistant Henoch-Schonlein Purpura Nephritis

J. Barratt, A. Ponnusamy, P. Kalra, 2015, Case reports in nephrology.

Incidence, predictors and clinical characteristics of orolingual angio-oedema complicating thrombolysis with tissue plasminogen activator for ischaemic stroke

A. Parry-Jones, P. Tyrrell, A. Vail, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Clinical and laboratory features of seventy‐eight UK patients with Good’s syndrome (thymoma and hypogammaglobulinaemia)

Smita Y. Patel, S. Burns, Anthony P. Williams, 2018, Clinical and experimental immunology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Response to pneumococcal polysaccharide vaccination in patients with chronic and allergic aspergillosis.

D. Denning, Julie Morris, R. Borrow, 2015, Vaccine.

be considered a treatment option for other patients with this complement immunodeficiency.

P. Arkwright, P. Riley, H. Alachkar, 2013 .

Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation.

P. Arkwright, P. Riley, H. Alachkar, 2014, The Journal of allergy and clinical immunology.

Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy

S. Burns, P. Arkwright, S. Jolles, 2018, Clinical and experimental immunology.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

Clinical and laboratory correlates of lung disease and cancer in adults with idiopathic hypogammaglobulinaemia

B. Grimbacher, P. Arkwright, H. Baxendale, 2016, Clinical and experimental immunology.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

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

Andrew J. Oler, Smita Y. Patel, Ivan K. Chinn, 2019, The Journal of allergy and clinical immunology.

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012

Smita Y. Patel, A. Gennery, S. Marshall, 2014, Clinical and experimental immunology.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Toxic epidermal necrolysis (TEN) associated with the use of nivolumab (PD-1 inhibitor) for lymphoma

J. Radford, L. Cove-Smith, H. Alachkar, 2018, JAAD case reports.

A UK national audit of hereditary and acquired angioedema

P. Williams, P. Arkwright, S. Jolles, 2014, Clinical and experimental immunology.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency.

A. Durandy, N. Taubenheim, P. Arkwright, 2006, Clinical immunology.

Meningococcal meningitis in a patient with urticarial vasculitis: is there a link?

H. Alachkar, M. Helbert, F. Qasim, 2007, Journal of Clinical Pathology.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe

P. Kralickova, J. Litzman, A. Turley, 2015, Journal of Clinical Immunology.

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

Smita Y. Patel, A. Gennery, A. Worth, 2018, Clinical and experimental immunology.

Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe

P. Kralickova, J. Litzman, N. Kutukculer, 2015, Journal of Clinical Immunology.

LONG-TERM OUTCOMES FOR ADULTS WITH CHRONIC GRANULOMATOUS DISEASE IN THE UNITED KINGDOM.

A. Gennery, D. Goldblatt, S. Burns, 2020, The Journal of allergy and clinical immunology.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2023, Journal of Clinical Immunology.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Response to pneumococcal polysaccharide vaccination in patients with chronic and allergic aspergillosis.

D. Denning, R. Borrow, H. Alachkar, 2015, Vaccine.

A national survey of hereditary angioedema and acquired C1 inhibitor deficiency in the United Kingdom.

A. Worth, P. Arkwright, F. Shackley, 2023, The journal of allergy and clinical immunology. In practice.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

First case series of clozapine induced hypogammaglobulinaemia in England

H. Alachkar, A. Herwadkar, S. Elkhalifa, 2021 .

Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or atopic disease

Andrew J. Oler, Ivan K. Chinn, S. Nejentsev, 2019 .