Decreased telomere length in children with cartilage-hair hypoplasia.

Background: Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations. Manifestations include short stature, variable immunodeficiency, anaemia and increased risk of malignancies, all of which have been described also in telomere biology disorders. interacts with the telomerase RT (TERT) subunit, but the influence of mutations on telomere length is unknown.

Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.

Unlabelled: Hyperimmunoglobulinemia D syndrome (HIDS) is an autoinflammatory disorder that is caused by mevalonate kinase deficiency (MKD). Recent advances in the pathogenesis of MKD, including the proposed mechanisms of inflammasome activation, provide the basis for the development of new treatment modalities. So far, feedback on the treatment of HIDS with biological medicines has come from case reports with limited numbers of patients.