A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia

Background: Mutations in RMRP, encoding a non-coding RNA molecule, underlie cartilage-hair hypoplasia (CHH), a syndromic immunodeficiency with multiple pathogenetic mechanisms and variable phenotype. Allergy and asthma have been reported in the CHH population and some patients suffer from autoimmune...

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Detalles Bibliográficos
Autores principales: Vakkilainen, Svetlana, Mäkitie, Riikka, Klemetti, Paula, Valta, Helena, Taskinen, Mervi, Husebye, Eystein Sverre, Mäkitie, Outi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209636/
https://www.ncbi.nlm.nih.gov/pubmed/30410491
http://dx.doi.org/10.3389/fimmu.2018.02468

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209636/
https://www.ncbi.nlm.nih.gov/pubmed/30410491
http://dx.doi.org/10.3389/fimmu.2018.02468

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