All Stories

  1. TAP-I Deficiency Presenting With Chronic Granulomatous Rubella Virus-Driven Cutaneous Ulceration: A Case Report and Scoping Literature Review

    Article • Journal of Clinical Immunology, November 2025, Springer Science + Business Media

    Mark Ponsford

  2. Extended Parasitic Screening in 1154 Adults with Chronic Spontaneous Urticaria: Diagnostic and Therapeutic Insights

    Article • October 2025, Wiley

    Mark Ponsford

  3. Practical challenges for functional validation of STAT1 gain of function genetic variants

    Article • Clinical & Experimental Immunology, February 2023, Oxford University Press (OUP)

    Mark Ponsford

  4. The interplay between inflammatory cytokines and cardiometabolic disease: bi-directional mendelian randomisation study

    Article • BMJ Medicine, February 2023, BMJ

    Mark Ponsford

  5. Strategies to promote guideline adoption: lessons learned from the implementation of a national COVID-19 hospital guideline across NHS Wales

    Article • Future Healthcare Journal, November 2022, Elsevier

    Mark Ponsford

  6. Immunodeficient patient experience of emergency switch from intravenous to rapid push subcutaneous immunoglobulin replacement therapy during coronavirus disease 2019 shielding

    Article • Current Opinion in Allergy and Clinical Immunology, September 2022, Wolters Kluwer Health

    Mark Ponsford

  7. Failure to mount a humoral response to COVID-19 vaccination identifies individuals with previously undiagnosed severe antibody deficiency state: preliminary data from the COVID-19 ENLIST study

    Article • Future Healthcare Journal, July 2022, Elsevier

    Mark Ponsford

  8. The burden of hospital-acquired COVID-19: the Welsh and international experience

    Article • Future Healthcare Journal, July 2022, Elsevier

    Mark Ponsford

  9. Changes in immunoglobulin levels during clozapine treatment in schizophrenia

    Article • May 2022, Cold Spring Harbor Laboratory Press

    Mark Ponsford

  10. Mechanically Ventilated Patients Shed High-Titer Live Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) for Extended Periods From Both the Upper and Lower Respiratory Tract

    Article • Clinical Infectious Diseases, March 2022, Oxford University Press (OUP)

    Mark Ponsford

  11. Mechanically ventilated patients shed high titre live SARS-CoV2 for extended periods from both the upper and lower respiratory tract

    Article • December 2021, Cold Spring Harbor Laboratory Press

    Mark Ponsford

  12. Persistent COVID-19 Infection in Wiskott-Aldrich Syndrome Cleared Following Therapeutic Vaccination: a Case Report

    Article • Journal of Clinical Immunology, October 2021, Springer Science + Business Media

    Mark Ponsford

  13. Burden of nosocomial COVID-19 in Wales: results from a multicentre retrospective observational study of 2508 hospitalised adults

    Article • Thorax, July 2021, BMJ

    Mark Ponsford

  14. A systematic review and meta-analysis of inpatient mortality associated with nosocomial and community COVID-19 exposes the vulnerability of immunosuppressed adults

    Article • July 2021, Cold Spring Harbor Laboratory Press

    Mark Ponsford

  15. Evaluating the Implementation of a National COVID-19 Hospital Guideline in Wales

    Article • June 2021, Springer Science + Business Media

    Mark Ponsford

  16. Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia

    Article • Journal of Clinical Immunology, June 2021, Springer Science + Business Media

    Mark Ponsford

  17. Development of a high‐sensitivity ELISA detecting IgG, IgA and IgM antibodies to the SARS‐CoV‐2 spike glycoprotein in serum and saliva

    Article • Immunology, May 2021, Wiley

    Mark Ponsford

  18. High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders

    Article • Human Genetics, March 2021, Springer Science + Business Media

    Mark Ponsford

  19. Examining the utility of extended laboratory panel testing in the emergency department for risk stratification of patients with COVID-19: a single-centre retrospective service evaluation

    Article • Journal of Clinical Pathology, February 2021, BMJ

    Mark Ponsford

  20. Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome

    Article • Journal of Clinical Immunology, February 2021, Springer Science + Business Media

    Mark Ponsford

  21. Increased Respiratory Viral Detection and Symptom Burden Among Patients with Primary Antibody Deficiency: Results from the BIPAD Study

    Article • The Journal of Allergy and Clinical Immunology In Practice, February 2021, Elsevier

    Mark Ponsford

  22. The burden of nosocomial covid-19: results from the Wales multi-centre retrospective observational study of 2518 hospitalised adults

    Article • January 2021, Cold Spring Harbor Laboratory Press

    Mark Ponsford

  23. Development of a high-throughput SARS-CoV-2 antibody testing pathway using dried blood spot specimens

    Article • Annals of Clinical Biochemistry International Journal of Laboratory Medicine, December 2020, SAGE Publications

    Mark Ponsford

  24. Testing for antibodies to SARS-CoV-2

    Article • BMJ, November 2020, BMJ

    Mark Ponsford

  25. Cardiometabolic Traits, Sepsis, and Severe COVID-19

    Article • Circulation, November 2020, Wolters Kluwer Health

    Mark Ponsford

  26. Complement Inhibition with the C5 Blocker LFG316 in Severe COVID-19

    Article • American Review of Respiratory Disease, November 2020, American Thoracic Society

    Mark Ponsford

  27. Genetic study of circulating cytokines offers insight into the determinants, cascades and effects of systemic inflammation

    Article • October 2020, Cold Spring Harbor Laboratory Press

    Mark Ponsford

  28. Extended laboratory panel testing in the Emergency Department for risk-stratification of patients with COVID-19: a single centre retrospective service evaluation

    Article • October 2020, Cold Spring Harbor Laboratory Press

    Mark Ponsford

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

    Article • Journal of Allergy and Clinical Immunology, October 2020, Elsevier

    Mark Ponsford

  30. Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome

    Article • Frontiers in Pediatrics, September 2020, Frontiers

    Mark Ponsford

  31. Are we underestimating seroprevalence of SARS-CoV-2?

    Article • BMJ, September 2020, BMJ

    Mark Ponsford

  32. Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Article • Nature, July 2020, Springer Science + Business Media

    Professor Albert Ong, Mark Ponsford

  33. Cardiometabolic traits, sepsis and severe covid-19: a Mendelian randomization investigation

    Article • June 2020, Cold Spring Harbor Laboratory Press

    Mark Ponsford

  34. Detection of antibodies to the SARS-CoV-2 spike glycoprotein in both serum and saliva enhances detection of infection

    Article • June 2020, Cold Spring Harbor Laboratory Press

    Mark Ponsford

  35. Improved anaphylaxis referral rates to specialized services from an Emergency Department

    Article • Clinical & Experimental Allergy, June 2020, Wiley

    Mark Ponsford

  36. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Article • Nature, May 2020, Springer Science + Business Media

    Professor Albert Ong, Mark Ponsford

  37. New overlaps between mental health, antipsychotic medication and the immune system revealed

    Article • Journal of Clinical Pathology, February 2020, BMJ

    Mark Ponsford

  38. Clozapine-associated secondary antibody deficiency

    Article • Current Opinion in Allergy and Clinical Immunology, December 2019, Wolters Kluwer Health

    Mark Ponsford, Mark Ponsford

  39. Clinical and laboratory characteristics of clozapine treated schizophrenia patients referred to a national immunodeficiency clinic reveals a B-cell signature resembling CVID.

    Article • October 2019, Cold Spring Harbor Laboratory Press

    Mark Ponsford

  40. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Article • The American Journal of Human Genetics, May 2019, Elsevier

    Professor Allan Lawrie, Mark Ponsford

  41. Antibody deficiency in patients taking clozapine

    Article • BMJ, February 2019, BMJ

    Mark Ponsford, Mark Ponsford

  42. What is new in HIES? Recent insights from the interface of primary immune deficiency and atopy

    Article • Current Opinion in Allergy and Clinical Immunology, December 2018, Wolters Kluwer Health

    Mark Ponsford

  43. Hyper-IgE in the allergy clinic--when is it primary immunodeficiency?

    Article • Allergy, October 2018, Wiley

    Mark Ponsford

  44. Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency

    Article • Journal of Clinical Immunology, October 2018, Springer Science + Business Media

    Mark Ponsford

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

    Article • Journal of Allergy and Clinical Immunology, October 2018, Elsevier

    Mark Ponsford

  46. Clozapine is associated with secondary antibody deficiency

    Article • The British Journal of Psychiatry, September 2018, Royal College of Psychiatrists

    Mark Ponsford

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

    Article • Scientific Reports, September 2018, Springer Science + Business Media

    Professor Allan Lawrie, Mark Ponsford

  48. Quantification of human C1 esterase inhibitor protein using an automated turbidimetric immunoassay

    Article • Journal of Clinical Laboratory Analysis, July 2018, Wiley

    Mark Ponsford

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

    Article • The American Journal of Human Genetics, July 2018, Elsevier

    Mark Ponsford, Professor Allan Lawrie

  50. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

    Article • The American Journal of Human Genetics, July 2018, Elsevier

    Mark Ponsford, Professor Allan Lawrie

  51. Quantification of human complement C2 protein using an automated turbidimetric immunoassay

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), May 2018, De Gruyter

    Mark Ponsford

  52. Measurement of Typhi Vi antibodies can be used to assess adaptive immunity in patients with immunodeficiency

    Article • Clinical & Experimental Immunology, April 2018, Wiley

    Chris Scott, Mark Ponsford

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

    Article • Scientific Reports, January 2018, Springer Science + Business Media

    Mark Ponsford, Professor Allan Lawrie

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

    Article • Circulation, November 2017, Wolters Kluwer Health

    Mark Ponsford, Professor Allan Lawrie

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

    Article • The American Journal of Human Genetics, February 2017, Elsevier

    Mark Ponsford, Professor Allan Lawrie

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

    Article • The American Journal of Human Genetics, January 2017, Elsevier

    Mark Ponsford, Professor Allan Lawrie

  57. Skin Necrosis Following Subcutaneous Immunoglobulin (SCIg)

    Article • Journal of Clinical Immunology, October 2016, Springer Science + Business Media

    Mark Ponsford, Mark Ponsford

  58. Facilitated subcutaneous immunoglobulin (fSCIg) therapy - practical considerations

    Article • Clinical & Experimental Immunology, September 2015, Wiley

    Mark Ponsford

  59. Five years of self-administered hyaluronidase facilitated subcutaneous immunoglobulin (fSCIg) home therapy in a patient with primary immunodeficiency

    Article • Journal of Clinical Pathology, July 2015, BMJ

    Mark Ponsford

  60. Long-term follow-up of patients undergoing free tissue transfer to the lower limb following trauma

    Article • European Journal of Plastic Surgery, April 2013, Springer Science + Business Media

    Mark Ponsford

  61. Sequestration and Microvascular Congestion Are Associated With Coma in Human Cerebral Malaria

    Article • The Journal of Infectious Diseases, December 2011, Oxford University Press (OUP)

    Mark Ponsford

  62. Laboratory sample turnaround times: do they cause delays in the ED?

    Article • Journal of Evaluation in Clinical Practice, September 2010, Wiley

    Mark Ponsford