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Encyclopedia of Medical Immunology pp 1–3Cite as

Cartilage Hair Hypoplasia (RMRP)

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Synonyms

CHH: Cartilage hair hypoplasia; CID: Combined immunodeficiency; RMRP: Ribonuclease mitochondrial RNA-processing; RNase MRP: Mitochondrial RNA-processing endoribonuclease

Definition

Cartilage hair hypoplasia (CHH) is a rare autosomal recessive condition, which uniquely combines the features of a skeletal dysplasia and immunodeficiency. These individuals are also at increased risk for autoimmune disorders such as Hirschprung’s disease as well as an increased risk of malignancy, most notably lymphoma (Bordon et al. 2010). The clinical features are highly variable, and the genotype–phenotype correlations not well delineated.

The RMRP (RNA component of ribonuclease mitochondrial RNA-processing) gene has been identified as the causative gene for CHH (Ridanpää et al. 2001). Further study of the molecular pathways associated with this gene has elucidated the connection between the skeletal and immunologic aspects of this condition. However, much remains to be learned about RNA...

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References

  • Biggs CM, Kostjukovits S, Dobbs K, Laakso S, Klemetti P, Valta H, Taskinen M, Mäkitie O, Notarangelo LD. Diverse autoantibody reactivity in cartilage-hair hypoplasia. J Clin Immunol. 2017;37:508–10.

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  • Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Qasim W, Friedrich W, Wulfraat NM, Scherer F, Cant AJ, Fischer A, Cavazzana-Calvo M, Bredius RGM, Notarangelo LD, Mazzolari E, Neven B, Güngör Y. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood. 2010;116(1):27–35.

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  • Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Prujin G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 2001;104:195–203.

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  • Rogler LE, Kosmyna B, Moskowitz D, Bebawee R, Rahimzadeh J, Kutchko K, Laederach A, Notarangelo LD, Giliani S, Bouhassira E, Frenette P, Roy-Chowdhury J, Rogler CE. Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. Hum Molec Genet. 2014;23(2):358–82.

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  • Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007;81:519–29.

    Article  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Division of Genetics, Johns Hopkins All Children’s Hospital, St. Petersburg, FL, USA

    Melissa Crenshaw

Authors
  1. Melissa Crenshaw
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Corresponding author

Correspondence to Melissa Crenshaw .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Noel R. Rose

Section Editor information

  1. USF Health, Tampa, Florida, USA

    Jolan Walter

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Crenshaw, M. (2019). Cartilage Hair Hypoplasia (RMRP). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_192-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_192-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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