Litcius/Paper detail

Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11

Amie Nguyen, Henry Y. Lu, Bradly M. Bauman, Gina Dabbah‐Krancher, Xijun Zhang, Gauthaman Sukumar, Joaquín Villar, Marita Bosticardo, Shefali Samant, Timothy James Maarup, Jerry C. Cheng, Neena Kapoor, David S. Cassarino, Joshua D. Milner, Luigi D. Notarangelo, Joseph A. Church, Javed Sheikh, Clifton L. Dalgard, Stuart E. Turvey, Andrew L. Snow

2023Journal of Clinical Immunology10 citationsDOIOpen Access PDF

Topics & Concepts

Loss functionGeneticsMedical microbiologyDiseaseBiologyFunction (biology)MedicinePhenotypePathologyGeneImmunologyHereditary Neurological DisordersImmunodeficiency and Autoimmune DisordersRNA regulation and disease