2 documents found, page 1 of 1
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 ...
Primary Immunodeficiency Associated with Chromosomal Aberration - an ESID Survey
Schatorjé, E; van der Flier, M; Seppänen, M; Browning, M; Morsheimer, M; Henriet, S; Neves, JF; Vinh, D; Alsina, L; Grumach, A; Soler-Palacin, PPatients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study.