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

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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Bibliographic Details
Main Authors: Svetlana Vakkilainen, Riikka Mäkitie, Paula Klemetti, Helena Valta, Mervi Taskinen, Eystein Sverre Husebye, Outi Mäkitie
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-10-01
Series:Frontiers in Immunology
Subjects:
allergy
asthma
autoantibodies
enteropathy
RMRP
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.02468/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2018.02468/full

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