Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.

Retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache (ROSAH) syndrome is an autosomal dominant disorder and to date is known to be caused by either the Thr237Met or Tyr254Cys variant in the protein kinase ALPK1. Here, we identify a family in which ROSAH syndrome is caused by a novel variant in which Ser277 is changed to Phe. All six patients examined display ocular inflammation and optic nerve elevation, four have retinal degeneration and four are registered blind.

Long-term follow-up of the STOPAGO study.

In an open prospective, multicenter study enrolling 48 selected patients with chronic immune thrombocytopenia who achieved complete response for 1 year on thrombopoietin receptor agonists, half of the patients maintained a sustained response off treatment 4 years after treatment discontinuation.

Combined radiographic and ultrasound evaluations to decipher joint involvement in the hands of patients with systemic sclerosis.

Objective: The objective of this study was to explore the etiologies and contributing factors of synovial and tenosynovial involvement in SSc, as well as to assess the phenotype of patients with these synovial and tenosynovial features.

Methods: 171 SSc patients with hand manifestations (either vascular, skin or joint manifestations) who underwent standard X-rays of both hands and hand ultrasound (US), were included. Two independent evaluators recorded the presence or absence of acro-osteolysis, calcinosis, microcrystalline and degenerative rheumatisms, including osteophytosis on X-Rays.

Efficacy and safety of TPO receptor agonists in treatment of ITP associated with predominantly antibody deficiencies.

Predominantly antibody deficiencies have an estimated prevalence of >1 in 25 000. Their classical phenotype entails the association of autoimmune manifestations with increased susceptibility to infections. Up to 8% of these patients ultimately develop immune thrombocytopenic purpura (ITP).