Referenties/links

Aksentijevich, I., Schnappauf, O. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases. Nat Rev Rheumatol 17, 405–425 (2021). https://doi.org/10.1038/s41584-021-00614-1

Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022 Oct;42(7):1508-1520. doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6. PMID: 36198931.

Bucciol G, Van Nieuwenhove E, Moens L, Itan Y, Meyts I. Whole exome sequencing in inborn errors of immunity: use the power but mind the limits. Curr Opin Allergy Clin Immunol. 2017 Dec;17(6):421-430. doi: 10.1097/ACI.0000000000000398. PMID: 28938278.

Gruber, C., Bogunovic, D. Incomplete penetrance in primary immunodeficiency: a skeleton in the closet. Hum Genet 139, 745–757 (2020). https://doi-org.proxy-ub.rug.nl/10.1007/s00439-020-02131-9

Kosmider, O., Possémé, C., Templé, M. et al. VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation. Nat Commun 15, 910 (2024). https://doi.org/10.1038/s41467-024-44811-4

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. PMID: 25741868; PMCID: PMC4544753.