References
Fekrvand S, Yazdani R, Olbrich P, Gennery A, Rosenzweig SD, Condino-Neto A, et al. Primary immunodeficiency diseases and Bacillus Calmette-Guérin (BCG)-vaccine-derived complications: a systematic review. J Allergy Clin Immunol Pract United States. 2020;8:1371–86.
Yehia L, Keel E, Eng C. The clinical spectrum of PTEN mutations. Annu Rev Med Annual Reviews. 2020;71:103–16.
Taylor H, Laurence ADJ, Uhlig HH. The role of PTEN in innate and adaptive immunity. Cold Spring Harb Perspect Med. 2019;9(12):a036996.
Chen HH, Händel N, Ngeow J, Muller J, Hühn M, Yang HT, et al. Immune dysregulation in patients with PTEN hamartoma tumor syndrome: analysis of FOXP3 regulatory T cells. J Allergy Clin Immunol Elsevier. 2017;139:607-620.e15.
Heindl M, Handel N, Ngeow J, Kionke J, Wittekind C, Kamprad M, et al. Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. Gastroenterology United States. 2012;142:1093-1096.e6.
Taylor H, Yerlioglu D, Phen C, Ballauff A, Nedelkopolou N, Spier I, et al. mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in juvenile polyposis of infancy due to PTEN-BMPR1A deletion syndrome. Hum Mol Genet. 2021;30(14):1273.
Garcia-Prat M, Álvarez-Sierra D, Aguiló-Cucurull A, Salgado-Perandrés S, Briongos-Sebastian S, Franco-Jarava C, et al. Extended immunophenotyping reference values in a healthy pediatric population. Cytom Part B Clin Cytom John Wiley & Sons, Ltd. 2019;96:223–33.
Garcia-Prat M, Vila-Pijoan G, Martos Gutierrez S, Gala Yerga G, García Guantes E, Martínez-Gallo M, et al. Age-specific pediatric reference ranges for immunoglobulins and complement proteins on the OptiliteTM automated turbidimetric analyzer. J Clin Lab Anal Wiley Online Library. 2018;32:e22420.
Tsujita Y, Mitsui-Sekinaka K, Imai K, Yeh TW, Mitsuiki N, Asano T, et al. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome–like immunodeficiency. J Allergy Clin Immunols Elsevier Inc. 2016;138:1672–80.
Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40:24–64.
Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase & #x3b4; syndrome: A large patient cohort study. J Allergy Clin Immunol Elsevier. 2017;139:597-606.e4.
Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, et al. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase & #x3b4; syndrome 2: A cohort study. J Allergy Clin Immunol Elsevier. 2016;138:210-218.e9.
Nunes-Santos CJ, Rosenzweig SD. Bacille Calmette-Guerin complications in newly described primary immunodeficiency Diseases: 2010–2017. Front Immunol Frontiers. 2018;9:1423.
Chiriaco M, Brigida I, Ariganello P, Di Cesare S, Di Matteo G, Taus F, et al. The case of an APDS patient: defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment. Clin Immunol. 2017;178:20–8.
Sloot YJE, Rabold K, Netea MG, Smit JWA, Hoogerbrugge N, Netea-Maier RT. Effect of PTEN inactivating germline mutations on innate immune cell function and thyroid cancer-induced macrophages in patients with PTEN hamartoma tumor syndrome. Oncogene Nature Publishing Group. 2019;38(19):3743–55.
Huang GC, Redelman-Sidi G, Rosen N, Glickman MS, Jiang XJ. Inhibition of mycobacterial infection by the tumor suppressor PTEN. J Biol Chem. 2012;287:23196–202.
Rosain J, Kong X-F, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, et al. Mendelian susceptibility to mycobacterial disease: 2014–2018 update. Immunol Cell Biol. 2019;97:360–7.
Acknowledgements
We would like to thank the patients and their families for their contribution to this research.
Funding
HHU is supported by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC), University of Oxford, and The Leona M. and Harry B. Helmsley Charitable Trust.
Author information
Authors and Affiliations
Contributions
HHU and MT provided clinical data. DA performed T cell phenotyping and HC performed phosphoflow analysis of T cell blasts. HT and HHU wrote and prepared the manuscript. DA, MT, and HC edited and reviewed the manuscript.
Corresponding author
Ethics declarations
Ethical Approval and Informed Consent
Patients consented to clinical research via the Oxford GI biobank. They have consented to publication.
Conflict of Interest
HC and HHU received research support by UCB Pharma.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary Information
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Taylor, H., Aschenbrenner, D., Thomson, M. et al. BCG Vaccine–Associated Complications in Patients with PTEN Hamartoma Tumor Syndrome . J Clin Immunol 41, 1701–1705 (2021). https://doi.org/10.1007/s10875-021-01100-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10875-021-01100-9