Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene panel. Variants were classified and curated through expert review.

Evidence-based decision-making in the treatment of speech, language, and communication disorders in Down syndrome; a scoping review.

This scoping review examined available scientific evidence according to the PRISMA-ScR guideline on the subject of treatment interventions by speech and language therapists of speech, language, and communication needs in people with Down syndrome. A literature search in PubMed, Embase, Cinahl, Cochrane, and Web of Science yielded 41 studies suitable for inclusion. All studies examined the effect of an intervention in speech, language or communicative behaviour, alone or in combination.

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.

Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This paper provides a comprehensive overview of the Dutch DADA2 cohort. We performed a retrospective cohort study in 29 ADA2-deficient patients from 23 families with a median age at inclusion of 26 years.