J Clin Immunol (2017) 37:508–510 DOI 10.1007/s10875-017-0408-4 LETTER TO EDITOR 1,2 3,4 5 3 Catherine M. Biggs & Svetlana Kostjukovits & Kerry Dobbs & Saila Laakso & 3 3 3 3,4,6 Paula Klemetti & Helena Valta & Mervi Taskinen & Outi Mäkitie & Luigi D. Notarangelo Received: 8 May 2017 /Accepted: 30 May 2017 /Published online: 19 June 2017 Springer Science+Business Media New York 2017 To the editor: purpura, as well as autoimmune hypothyroidism and enteropa- Cartilage-hair hypoplasia (CHH) is a pleiotropic autosomal thy [1, 2]. The mechanisms behind the immune deficiency and recessive disorder caused by mutations in the RMRP gene. dysregulation associated with CHH are still incompletely un- Clinical features include short stature and metaphyseal bone derstood. Decreased AIRE expression and absence of FOXP3 dysplasia, as well as a range of extraskeletal manifestations T cells in the thymus have been implicatedinthepathogenesis such as hypotrichosis, bone marrow dysplasia, Hirschsprung of Omenn syndrome in a CHH patient . Cell cycle abnor- disease, increased risk of cancer, and immune defects [1, 2]. malities, reduced thymic output, impaired lymphocyte prolifer- The degree of immunodeficiency is highly variable, ranging ation, dysfunctional telomere machinery, and increased T cell from mild to severe forms
Journal of Clinical Immunology – Springer Journals
Published: Jun 19, 2017
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