软骨毛发发育不全早期死亡危险因素的验证 - Suppr

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

作者信息

Vakkilainen Svetlana, Ahonen Kira, Mäkitie Outi

机构信息

Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

出版信息

J Clin Immunol. 2024 Apr 27;44(5):115. doi: 10.1007/s10875-024-01714-9.

DOI:10.1007/s10875-024-01714-9

PMID:38676846

Abstract

摘要

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

J Clin Immunol. 2024 Apr 27;44(5):115. doi: 10.1007/s10875-024-01714-9.

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.

Medicine (Baltimore). 2024 May 24;103(21):e37247. doi: 10.1097/MD.0000000000037247.

[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases].

An Pediatr (Barc). 2015 Jun;82(6):436-9. doi: 10.1016/j.anpedi.2014.12.008. Epub 2015 Jan 20.

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.

Front Immunol. 2019 Jul 16;10:1581. doi: 10.3389/fimmu.2019.01581. eCollection 2019.

[Cartilage-hair hypoplasia. A case report].

Rev Alerg Mex. 2019 Jul-Sep;66(3):379-383. doi: 10.29262/ram.v66i3.561.

Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge.

Australas J Dermatol. 2024 May;65(3):272-275. doi: 10.1111/ajd.14258. Epub 2024 Mar 27.

The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.

Clin Dysmorphol. 2017 Apr;26(2):121-123. doi: 10.1097/MCD.0000000000000155.

Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

Eur J Med Genet. 2021 Feb;64(2):104136. doi: 10.1016/j.ejmg.2021.104136. Epub 2021 Jan 12.

Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.

Indian Pediatr. 2011 Jul;48(7):559-61. doi: 10.1007/s13312-011-0086-x.

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

J Clin Immunol. 2017 Aug;37(6):508-510. doi: 10.1007/s10875-017-0408-4. Epub 2017 Jun 19.

本文引用的文献

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 Nov 22;3(1):100190. doi: 10.1016/j.jacig.2023.100190. eCollection 2024 Feb.

Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.

Scand J Immunol. 2020 Oct;92(4):e12913. doi: 10.1111/sji.12913. Epub 2020 Jun 22.

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

J Clin Immunol. 2020 Feb;40(2):321-328. doi: 10.1007/s10875-019-00739-9. Epub 2020 Jan 6.

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.

Front Immunol. 2019 Jul 16;10:1581. doi: 10.3389/fimmu.2019.01581. eCollection 2019.

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Cell. 2001 Jan 26;104(2):195-203. doi: 10.1016/s0092-8674(01)00205-7.

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

作者信息

Vakkilainen Svetlana, Ahonen Kira, Mäkitie Outi

机构信息

Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

出版信息

J Clin Immunol. 2024 Apr 27;44(5):115. doi: 10.1007/s10875-024-01714-9.

DOI:10.1007/s10875-024-01714-9

PMID:38676846

Abstract

摘要

相似文献

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

J Clin Immunol. 2024 Apr 27;44(5):115. doi: 10.1007/s10875-024-01714-9.

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.

Medicine (Baltimore). 2024 May 24;103(21):e37247. doi: 10.1097/MD.0000000000037247.

[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases].

An Pediatr (Barc). 2015 Jun;82(6):436-9. doi: 10.1016/j.anpedi.2014.12.008. Epub 2015 Jan 20.

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.

Front Immunol. 2019 Jul 16;10:1581. doi: 10.3389/fimmu.2019.01581. eCollection 2019.

[Cartilage-hair hypoplasia. A case report].

Rev Alerg Mex. 2019 Jul-Sep;66(3):379-383. doi: 10.29262/ram.v66i3.561.

Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge.

Australas J Dermatol. 2024 May;65(3):272-275. doi: 10.1111/ajd.14258. Epub 2024 Mar 27.

The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.

Clin Dysmorphol. 2017 Apr;26(2):121-123. doi: 10.1097/MCD.0000000000000155.

Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

Eur J Med Genet. 2021 Feb;64(2):104136. doi: 10.1016/j.ejmg.2021.104136. Epub 2021 Jan 12.

Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.

Indian Pediatr. 2011 Jul;48(7):559-61. doi: 10.1007/s13312-011-0086-x.

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

J Clin Immunol. 2017 Aug;37(6):508-510. doi: 10.1007/s10875-017-0408-4. Epub 2017 Jun 19.

本文引用的文献

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 Nov 22;3(1):100190. doi: 10.1016/j.jacig.2023.100190. eCollection 2024 Feb.

Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.

Scand J Immunol. 2020 Oct;92(4):e12913. doi: 10.1111/sji.12913. Epub 2020 Jun 22.

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

J Clin Immunol. 2020 Feb;40(2):321-328. doi: 10.1007/s10875-019-00739-9. Epub 2020 Jan 6.

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.

Front Immunol. 2019 Jul 16;10:1581. doi: 10.3389/fimmu.2019.01581. eCollection 2019.

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Cell. 2001 Jan 26;104(2):195-203. doi: 10.1016/s0092-8674(01)00205-7.

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

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

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