2 documents found, page 1 of 1
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Dise...
Ouahed, J; Kelsen, JR; Spessott, WA; Kooshesh, K; Sanmillan, ML; Dawany, N; Sullivan, KE; Hamilton, KE; Slowik, V; Nejentsev, S; Farela Neves, JBackground and aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD...
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.