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 ...
X-Linked Agammaglobulinemia (XLA):Phenotype, Diagnosis, and Therapeutic Challen...
El-Sayed, ZA; Abramova, I; Aldave, JC; Al-Herz, W; Bezrodnik, L; Boukari, R; Bousfiha, AA; Cancrini, C; Condino-Neto, A; Dbaibo, G; Derfalvi, BX-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications. This study was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to better understand regional needs, challenges and unique patient features.