Infancy onset diabetes mellitus in a patient with a novel homozygous LRBA mutation

Gebauer, 2004, Crystal structure of the PH-BEACH domains of human LRBA/BGL, Biochemistry, 43, 14873, 10.1021/bi049498y Wang, 2001, Identification of a novel lipopolysaccharide-inducible gene with key features of both a kinase anchor proteins and chs1/beige proteins, J Immunol, 166, 4586, 10.4049/jimmunol.166.7.4586 Feuchter, 1992, Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4, Genomics, 13, 1237, 10.1016/0888-7543(92)90041-P Gámez-Díaz, 2016, The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency, J Allergy Clin Immunol, 137, 223, 10.1016/j.jaci.2015.09.025 Lo, 2015, Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy, Science, 349, 436, 10.1126/science.aaa1663 Habibi, 2019, Clinical, immunologic, and molecular spectrum of patients with LPS-responsive beige-like anchor protein deficiency: a systematic Review, J Allergy Clin Immunol Pract, 7, 2379, 10.1016/j.jaip.2019.04.011 Walikonis, 1998, vol. 73, 1161 2021 Masuda, 2000, Autoantibodies to IA-2 in insulin-dependent diabetes mellitus. Measurements with a new immunoprecipitation assay, Int J Clin Chem, 29, 53 2021, Performance: zinc transporter 8 (ZnT8) antibody, Serum Haris, 2021, Clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus among children in Qatar, Sci Rep, 11, 18887, 10.1038/s41598-021-98460-4 Johnson, 2017, Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes, Diabetes, 66, 2316, 10.2337/db17-0040 Wu, 2019, PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing, Nat Commun, 10, 3801, 10.1038/s41467-019-11712-w Greeley, 2011, Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment, Curr Diabetes Rep, 11, 519, 10.1007/s11892-011-0234-7 Domènech, 2002, WFS1 mutations in Spanish patients with diabetes mellitus and deafness, Eur J Hum Genet : EJHG (Eur J Hum Genet), 10, 421, 10.1038/sj.ejhg.5200823 Alangari, 2012, LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency, J Allergy Clin Immunol, 130, 481, 10.1016/j.jaci.2012.05.043 Alroqi, 2018, Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation, J Allergy Clin Immunol, 141, 1050, 10.1016/j.jaci.2017.05.022 Charbonnier, 2015, Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA, J Allergy Clin Immunol, 135, 217, 10.1016/j.jaci.2014.10.019 Alkhairy, 2016, Spectrum of phenotypes associated with mutations in LRBA, J Clin Immunol, 36, 33, 10.1007/s10875-015-0224-7 Serwas, 2014, Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype, Inflamm Bowel Dis, 21, 40, 10.1097/MIB.0000000000000266 Lévy, 2016, LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis, Clin Immunol, 168, 88, 10.1016/j.clim.2016.03.006 Azizi, 2017, Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: a longitudinal study, Pediatr Allergy Immunol, 28, 478, 10.1111/pai.12735 Schreiner, 2016, Infancy-onset T1DM, short stature, and severe immunodysregulation in two siblings with a homozygous LRBA mutation, J Clin Endocrinol Metabol, 101, 898, 10.1210/jc.2015-3382 Soler-Palacín, 2018, LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy, Front Immunol, 9, 2397, 10.3389/fimmu.2018.02397 Sanyoura, 2021, Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes, Diabetes Res Clin Pract, 175, 10.1016/j.diabres.2021.108798 Salami, 2020, Evaluation of expression of LRBA and CTLA-4 proteins in common variable immunodeficiency patients, Immunol Invest, 1 Meshaal, 2020, Clinical phenotypes and immunological characteristics of 18 Egyptian LRBA deficiency patients, J Clin Immunol, 40, 820, 10.1007/s10875-020-00799-2 Totsune, 2021, Case report: infantile-onset fulminant type 1 diabetes mellitus caused by novel compound heterozygous LRBA variants, Front Immunol, 12, 1127, 10.3389/fimmu.2021.677572 Wang, 2014, Lipopolysaccharide-responsive beige-like anchor (LRBA), a novel regulator of human immune disorders, Austin J Clin Immunol, 1