2 documents found, page 1 of 1
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoi...
Staus, P; Rusch, S; El-Helou, S; Müller, G; Krausz, M; Geisen, U; Caballero-Oteyza, A; Krüger, R; Bakhtiar, S; Lee-Kirsch, MA; Fasshauer, M; Baumann, UPatient registries are a very important and essential tool for investigating rare diseases, as most physicians only see a limited number of cases during their career. Diseases of multi-organ autoimmunity and autoinflammation are especially challenging, as they are characterized by diverse clinical phenotypes and highly variable expressivity. The GAIN consortium (German multi-organ Auto Immunity Network) develop...
Characterization of the Clinical and Immunologic Phenotype and Management of 15...
Lorenzini, T; Fliegauf, M; Klammer, N; Frede, N; Proietti, M; Bulashevska, A; Camacho-Ordonez, N; Varjosalo, M; Kinnunen, M; de Vries, EBackground: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. Objective: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. Methods: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for ...