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Variable Phenotype of Severe Immunodeficiencies Associated with RMRP Gene Mutations

Lookup NU author(s): Dr Zohreh Nademi, Professor Mary Slatter, Professor Andrew GenneryORCiD


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Mutations in RMRP primarily give rise to Cartilage Hair Hypoplasia (CHH), a highly diverse skeletal disorder which can be associated with severe immunodeficiency. Increased availability of RMRP mutation screening has uncovered a number of infants with significant immunodeficiency but only mild or absent skeletal features. We surveyed the clinical and immunological phenotype of children who have undergone allogeneic haematopoietic stem cell transplantation for this condition in the UK.Thirteen patients with confirmed RMRP mutations underwent allogeneic stem cell transplantation (SCT) at two nationally commissioned centres using a variety of donors and conditioning regimens. Records were retrospectively reviewed.Median time from clinical presentation to diagnosis was 12 months (range 1 to 276 months), with three infants diagnosed with severe combined immunodeficiency (SCID) without radiographical manifestations of CHH. A total of 17 allogeneic procedures were performed on 13 patients including two stem-cell top-ups. The median age at transplant was 32.4 months (range 1.5 to 125 months). Of the eleven surviving patients, median follow-up was 50 months (range 21.6 to 168 months).RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations.

Publication metadata

Author(s): Ip W, Gaspar HB, Kleta R, Chanudet E, Bacchelli C, Pitts A, Nademi Z, Davies EG, Slatter MA, Amrolia P, Rao K, Veys P, Gennery AR, Qasim W

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Immunology

Year: 2015

Volume: 35

Issue: 2

Pages: 147-157

Print publication date: 01/02/2015

Online publication date: 08/02/2015

Acceptance date: 23/01/2015

ISSN (print): 0271-9142

ISSN (electronic): 1573-2592

Publisher: Springer US


DOI: 10.1007/s10875-015-0135-7


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Funder referenceFunder name
Department of Health
RP-2014-05-007Department of Health