Marylin Desjardins Swadhinya Arjunaraja Jeffrey R Stinson Batsukh Dorjbal Janani Sundaresan Julie Niemela Mark Raffeld Helen F Matthews Angela Wang Pamela Angelus Helen C Su Bruce D Mazer Andrew L Snow
10.3389/fimmu.2018.02944
Front Immunol
2018 Dec 12;9:2944.
atopy b cell lymphocytosis benta card11 primary immumunodeficiencies
CC BY
https://pubmed.ncbi.nlm.nih.gov/30619304/
CARD Signaling Adaptor Proteins / genetics Gain of Function Mutation Germ-Line Mutation Guanylate Cyclase / genetics Immunologic Deficiency Syndromes / genetics Lymphoproliferative Disorders / genetics
CARD Signaling Adaptor Proteins / genetics Gain of Function Mutation Germ-Line Mutation Guanylate Cyclase / genetics Immunologic Deficiency Syndromes / genetics Lymphoproliferative Disorders / genetics Case Reports Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't B-Lymphocytes / immunology B-Lymphocytes / metabolism Base Sequence CARD Signaling Adaptor Proteins / metabolism Family Health Female Guanylate Cyclase / metabolism Humans Immunologic Deficiency Syndromes / metabolism Immunologic Deficiency Syndromes / pathology Infant Lymphoproliferative Disorders / pathology Male NF-kappa B / metabolism Pedigree T-Lymphocytes / immunology T-Lymphocytes / metabolism CARD Signaling Adaptor Proteins NF-kappa B CARD11 protein, human Guanylate Cyclase
PMC6299974
30619304
A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family
2018