article_metadata: 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
article_metadata: 10.3389/fimmu.2021.677572
article_metadata: Front Immunol
article_metadata: 2021 Apr 12;12:677572.
article_metadata: ctla-4 deficiency lrba deficiency infantile-onset fulminant type 1 diabetes mellitus refractory autoimmune cytopenia transposable elements (te)
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33912197/
article_metadata: 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
article_metadata: 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
article_metadata: PMC8072023
article_metadata: 33912197
article_metadata: Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants
article_metadata: 2021