Patient registries are instrumental for clinical research in rare diseases. They help to achieve a sufficient sample size for epidemiological and clinical research and to assess the feasibility of clinical trials. The European Society for Immunodeficiencies (ESID) registry currently comprises information on >25,000 patients with inborn errors of immunity (IEI). The prerequisite of a patient to be included into the ESID registry is an IEI either defined by a defect in a gene included in the disease classification of the international union of immunological societies (IUIS), or verified by applying clinical criteria. Because a relevant number of patients, including those with common variable immunodeficiency (CVID), representing the largest group of patients in the registry, remains without a genetic diagnosis, consensus on classification of these patients is mandatory. Here, we present clinical criteria for a large number of IEI that were designed in expert panels with external review. They were implemented for novel entries and verification of existing datasets from 2014, yielding a substantial refinement. For instance, 8% of adults and 27% of children with CVID (176 out of 1704 patients) were reclassified to 22 different immunodeficiencies, illustrating progress in genetics, but also the previous lack of standardized disease definitions. Importantly, apart from registry purposes, the clinical criteria are also helpful to support treatment decisions in the absence of a genetic diagnosis or in patients with variants of unknown significance.

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BACKGROUND: The objective of the current study was to determine whether overnight pulse oximetry in patients with amyotrophic lateral sclerosis is prognostic of the onset of awake respiratory failure and hospital admissions. METHODS: This was an observational study in a cohort of subjects with amyotrophic lateral sclerosis. The study included subjects with a baseline S pO 2 6 94% on home overnight pulse oximetry testing. Patients age 6 80 y and those with comorbidities and with poor short-term prognosis or sleep apnea were excluded. The subjects were classified as nocturnal desaturators according to percentage of sleep time with S pO 2 < 90% (T90) > 10%. RESULTS: A total of 76 subjects were included: 40 men (53%), mean 6 SD age 60 6 14.4 y, mean 6 SD body mass index 25.7 6 4.60 kg/m 2 , and spinal presentation in 63.2%. After overnight pulse oximetry, 20 subjects (26%) were classified as desaturators and 56 (74%) as non-desaturators. In the first year, the subjects with nocturnal desaturation had respiratory failure more often compared with the subjects without desaturation (35% vs 10.91%; P 5 .02) and had a higher risk of developing respiratory failure during the course of the study (hazard ratio 2.48; P 5 .030). The desaturator group also had a higher rate of 6 1 admission (40% vs 7.3%; P 5 .01) and a higher likelihood of respiratory-related hospitalization (hazard ratio 2.41; P 5 .02). Median survival was almost 1 year less if T90 > 10% was observed in the overnight pulse oximetry: 21 months versus 32 months survival if T90 was^10%. CONCLUSIONS: In subjects with amyotrophic lateral sclerosis, nocturnal desaturation conferred a higher risk of respiratory failure and poorer prognosis. Even in the absence of other clinical criteria, early pulse oximetry should be performed and the need for nocturnal ventilatory support assessed.