{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T13:07:08Z","timestamp":1779800828656,"version":"3.53.1"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T00:00:00Z","timestamp":1778025600000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clin &amp; Trans Imm"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Germline\n                      <jats:italic>CARD11<\/jats:italic>\n                      variants lead to a spectrum of disease depending on the effect of signalling augmentation or impairment. Autosomal recessive (AR) CARD11 loss\u2010of\u2010function (LOF) is rare with only 12 cases reported to date.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Clinical and immunological information was collated for a patient with a homozygous\n                      <jats:italic>CARD11<\/jats:italic>\n                      p.(Arg379Pro) variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The patient (P1, aged 5, female) has a history of developmental delay and growth failure, severe early\u2010onset asthma, impaired clearance of naturally acquired viruses and probable susceptibility to live attenuated vaccines (LAV). Genetic testing revealed that P1 has a hypomorphic homozygous novel missense variant in the coiled\u2010coil (CC) domain of CARD11, leading to LOF. She has combined immunodeficiency with significant T and B cell defects, and impaired nuclear factor kappa B (NF\u2010\u03baB) activity in lymphocytes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We expand the phenotypic spectrum of CARD11\u2010opathies by describing a patient homozygous for a novel AR LOF\n                      <jats:italic>CARD11<\/jats:italic>\n                      variant, demonstrating susceptibility to Japanese encephalitis and varicella LAV and impaired clearance of multiple naturally acquired respiratory viral infections. Inborn errors of immunity affecting the CARD11\u2010BCL10\u2010MALT1 (CBM) complex should be considered in individuals with LAV vaccine susceptibility and recurrent or persistent viral infections.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cti2.70066","type":"journal-article","created":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T03:21:01Z","timestamp":1778124061000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel case of autosomal recessive CARD11 loss\u2010of\u2010function underlying impaired antiviral immunity and a review of literature"],"prefix":"10.1002","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-2014-1446","authenticated-orcid":false,"given":"Hamish","family":"Anderson","sequence":"first","affiliation":[{"name":"Canterbury Health Laboratories Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Verryt","sequence":"additional","affiliation":[{"name":"Tauranga Paediatric Department, Hauora a Toi Bay of Plenty Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8166-8819","authenticated-orcid":false,"given":"Paula","family":"Keating","sequence":"additional","affiliation":[{"name":"Canterbury Health Laboratories Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Saunders","sequence":"additional","affiliation":[{"name":"Paediatric Department, Christchurch Hospital Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Dalton","sequence":"additional","affiliation":[{"name":"Paediatric Department, Christchurch Hospital Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry D","family":"Hock","sequence":"additional","affiliation":[{"name":"Haematology Department, Christchurch Hospital Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Goddard","sequence":"additional","affiliation":[{"name":"Haematology Department, Christchurch Hospital Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kylie","family":"Drake","sequence":"additional","affiliation":[{"name":"Canterbury Health Laboratories Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Werno","sequence":"additional","affiliation":[{"name":"Canterbury Health Laboratories Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"O'Donnell","sequence":"additional","affiliation":[{"name":"Canterbury Health Laboratories Te Whatu Ora\u2010Health New Zealand  Christchurch New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey R","family":"Stinson","sequence":"additional","affiliation":[{"name":"Department of Pharmacology &amp; Molecular Therapeutics Uniformed Services University of the Health Sciences  Bethesda MD USA"},{"name":"Henry M. 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