BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening
Author:
Funder
Universitätsklinikum Freiburg
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01646-w.pdf
Reference6 articles.
1. Garcia-Solis B, Van Den Rym A, Pérez-Caraballo JJ, et al. Clinical and immunological features of human BCL10 deficiency. Front Immunol. 2021;12: 786572. https://doi.org/10.3389/fimmu.2021.786572.
2. Torres JM, Martinez-Barricarte R, García-Gómez S, et al. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. J Clin Investig. 2014;124(12):5239–48. https://doi.org/10.1172/JCI77493.
3. Van Den Rym A, Taur P, Martinez-Barricarte R, et al. Human BCL10 deficiency due to homozygosity for a rare allele. J Clin Immunol. 2020;40(2):388–98. https://doi.org/10.1007/s10875-020-00760-3.
4. Al-Tamemi S, Alhinai Z, Al-Rahbi N, et al. BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency. Clin Immunol (Orlando Fla). 2022;241: 109067. https://doi.org/10.1016/j.clim.2022.109067.
5. Greil J, Rausch T, Giese T, et al. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. J Allergy Clin Immunol. 2013;131(5):1376-1383.e3. https://doi.org/10.1016/j.jaci.2013.02.012.
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