Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia-Reference-Cited by-同舟云学术

Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia

Published:2024-04-27 Issue:5 Volume:44 Page:
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Vakkilainen Svetlana,Ahonen Kira, ,Marsh Rebecca,Secord Elizabeth,Puck Jennifer,Pozos Tamara,Seroogy Christine M.,Sullivan Kathleen E.,Walkovich Kelly,Hartog Nicholas L.,Lugar Patricia, ,Herget Theresia,Garcia-Prat Marina,Martin-Nalda Andrea,Ciznar Peter,Edgar John David,Candotti Fabio,Hellige Antje,Kindle Gerhard,Dabrowska-Leonik Nel,Fischer Marco,Ehl Stephan,Speckmann Carsten,Warnatz Klaus,Mäkitie Outi,

Funder

Academy of Finland, Sigrid Juselius Foundation, Novo Nordisk Foundation, Pediatric Research Foundation, Folkhälsan Research Foundation

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10875-024-01714-9.pdf

Reference5 articles.

1. Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 2001;104(2):195–203. https://doi.org/10.1016/s0092-8674(01)00205-7.

2. Vakkilainen S, Taskinen M, Makitie O. Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management. Scand J Immunol. 2020;92(4):e12913. https://doi.org/10.1111/sji.12913.

3. Vakkilainen S, Taskinen M, Klemetti P, Pukkala E, Makitie O. A 30-year prospective follow-up study reveals risk factors for early death in cartilage-hair hypoplasia. Front Immunol. 2019;10:1581. https://doi.org/10.3389/fimmu.2019.01581.

4. Pello E, Kainulainen L, Vakkilainen M, Klemetti P, Taskinen M, Mäkitie O, et al. Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia. J Allergy Clin Immunol Glob. 2023;3(1):100190. https://doi.org/10.1016/j.jacig.2023.100190.

5. Scott EM, Chandra S, Li J, Robinette ED, Brown MF, Wenger OK. Abnormal newborn screening follow-up for severe combined immunodeficiency in an Amish cohort with cartilage-hair hypoplasia. J Clin Immunol. 2020;40(2):321–8. https://doi.org/10.1007/s10875-019-00739-9.