Cartilage-hair hypoplasia and severe allergy.

摘要

A recent review on primary immune deficiencies with aberrant IgE production by Ozcan et al discussed 5 disorders: hyper-IgE syndrome; immune dysregulation, polyendocrinopathy, enterop-athy, X-linked syndrome; Wiskott-Aldrich syndrome; Omenn syndrome; and atypical complete DiGeorge syndrome. These disorders are associated with increased IgE levels and eosino-philia, but the occurrence of atopy was not specifically discussed in the review. Of particular interest are mutations involving the RNA component of the mitochondrial RNA-processing endori-bonuclease gene (RMRP) that can lead to the presentation of Omenn syndrome with skeletal dysplasia akin to cartilage-hair hypoplasia (CHH). CHH is an autosomal recessive disorder frequently caused by a homozygous RMRP g.70A>G mutation. It results in metaphyseal chondrodysplasia, short-limb dwarfism, and light-colored hypoplastic hair. It is variably associated with T-cell immunodeficiency and sometimes with immunoglobulin deficiency. Despite the presence of RMRP gene mutations in patients with CHH, as in a few cases of Omenn syndrome, increased IgE levels or atopic phenotype in CHH has not been described, although an association with autoimmunity has been found.