Eriko Totsune Tomohiro Nakano Kunihiko Moriya Daichi Sato Dai Suzuki Akinobu Miura Saori Katayama Hidetaka Niizuma Junko Kanno Menno C van Zelm Kohsuke Imai Hirokazu Kanegane Yoji Sasahara Shigeo Kure
10.3389/fimmu.2021.677572
Front Immunol
2021 Apr 12;12:677572.
ctla-4 deficiency lrba deficiency infantile-onset fulminant type 1 diabetes mellitus refractory autoimmune cytopenia transposable elements (te)
CC BY
https://pubmed.ncbi.nlm.nih.gov/33912197/
Adaptor Proteins, Signal Transducing / deficiency Adaptor Proteins, Signal Transducing / genetics Common Variable Immunodeficiency / diagnosis Diabetes Mellitus, Type 1 / diagnosis Diabetes Mellitus, Type 1 / genetics Gene Deletion Heterozygote Primary Immunodeficiency Diseases / diagnosis
Adaptor Proteins, Signal Transducing / deficiency Adaptor Proteins, Signal Transducing / genetics Common Variable Immunodeficiency / diagnosis Diabetes Mellitus, Type 1 / diagnosis Diabetes Mellitus, Type 1 / genetics Gene Deletion Heterozygote Primary Immunodeficiency Diseases / diagnosis Case Reports Research Support, Non-U.S. Gov't Autoimmunity Common Variable Immunodeficiency / genetics Diabetes Mellitus, Type 1 / immunology Diagnosis, Differential Female High-Throughput Nucleotide Sequencing / methods Humans Infant Pedigree Phenotype Primary Immunodeficiency Diseases / genetics Adaptor Proteins, Signal Transducing LRBA protein, human
PMC8072023
33912197
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants
2021