Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
Overview
Overview
Journal
J Clin Immunol
Publisher
Springer
Specialty
Allergy & Immunology
Date
2024 Apr 27
PMID
38676846
Authors
Affiliations
Affiliations
Soon will be listed here.
References
1.
Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, JOHNSON C, Yuan B
. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 2001; 104(2):195-203.
DOI: 10.1016/s0092-8674(01)00205-7.
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2.
Vakkilainen S, Taskinen M, Makitie O
. Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management. Scand J Immunol. 2020; 92(4):e12913.
DOI: 10.1111/sji.12913.
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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.
PMC: 6646460.
DOI: 10.3389/fimmu.2019.01581.
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4.
Pello E, Kainulainen L, Vakkilainen M, Klemetti P, Taskinen M, Makitie O
. 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. 2024; 3(1):100190.
PMC: 10770609.
DOI: 10.1016/j.jacig.2023.100190.
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5.
Scott E, Chandra S, Li J, Robinette E, Brown M, Wenger O
. Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia. J Clin Immunol. 2020; 40(2):321-328.
DOI: 10.1007/s10875-019-00739-9.
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