@article{df390d2cea634cf78bfd2bd8d3492355,
title = "Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11",
author = "{USUHS-NIAID-KPLA Consortium} and Amie Nguyen and Lu, {Henry Y.} and Bauman, {Bradly M.} and Gina Dabbah-Krancher and Xijun Zhang and Gauthaman Sukumar and Joaquin Villar and Marita Bosticardo and Samant, {Shefali Anil} and Maarup, {Timothy James} and Cheng, {Jerry C.} and Neena Kapoor and Cassarino, {David S.} and Milner, {Joshua D.} and Notarangelo, {Luigi D.} and Church, {Joseph A.} and Javed Sheikh and Dalgard, {Clifton L.} and Turvey, {Stuart E.} and Snow, {Andrew L.}",
note = "Funding Information: The authors thank the patients and their families for their participation. The opinions and assertions expressed herein are those of the authors and are not to be construed as reflecting the views of Uniformed Services University of the Health Sciences or the United States Department of Defense. Bradly M. Bauman4, Gina Dabbah-Krancher4, Xijun Zhang5,6, Gauthaman Sukumar5,6, Joaquin Villar5,6, Marita Bosticardo7, Shefali Anil Samant1, Timothy James Maarup8, Jerry C. Cheng9, Neena Kapoor10, David S. Cassarino11, Joshua D. Milner12, Luigi Notarangelo7, Joseph A. Church10, Javed Sheikh1‡, Clifton L. Dalgard5,65The American Genome Center, Precision Medicine Initiative for Military Medical Education and Research (PRIMER), Uniformed Services University of the Health Sciences, Bethesda, MD, USA.6Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA7Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA8Department of Genetics, Kaiser Permanente Downey Medical Centre, Downey, CA, USA9Department of Pediatrics, Kaiser Permanente Los Angeles Medical Center, Los Angeles, CA, USA10Department of Pediatrics, Keck School of Medicine, University of Southern California, Children{\textquoteright}s Hospital Los Angeles, Los Angeles, CA, USA11Department of Pathology, Kaiser Permanente Los Angeles Medical Center, Los Angeles, CA, USA12Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA Funding Information: This work was supported by grants from the Jeffrey Modell Foundation Specific Defect Research Program (A.L.S.), Genome British Columbia (SIP007) (S.E.T.), and BC Children{\textquoteright}s Hospital Foundation. S.E.T. holds a Tier 1 Canada Research Chair in Pediatric Precision Health and the Aubrey J. Tingle Professor of Pediatric Immunology. H.Y.L. was supported by a Canadian Institutes of Health Research (CIHR) Frederick Banting and Charles Best Canada Graduate Scholarships Doctoral Award (CGS-D), Killam Doctoral Scholarship, Friedman Award for Scholars in Health, and University of British Columbia Four Year Doctoral Fellowship. ",
year = "2023",
month = may,
doi = "10.1007/s10875-023-01440-8",
language = "English",
volume = "43",
pages = "709--713",
journal = "Journal of Clinical Immunology",
issn = "0271-9142",
number = "4",
}