ArticleClinical & translational immunology2026
A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature.
Article in Clinical & translational immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objectives: Germline Methods: Clinical and immunological information was collated for a patient with a homozygous Results: The patient (P1, aged 5, female) has a history of developmental delay and growth failure, severe early-onset 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-coil (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-κB) activity in lymphocytes. Conclusion: We expand the phenotypic spectrum of CARD11-opathies by describing a patient homozygous for a novel AR LOF
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