7 documents found, page 1 of 1
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
Marujo, F; Pelham, SJ; Freixo, J; Cordeiro, AI; Martins, C; Casanova, JL; Lei, WT; Puel, A; Farela Neves, Jnborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
Marujo, F; Pelham, SJ; Freixo, J; Cordeiro, AI; Martins, C; Casanova, JL; Lei, WT; Puel, A; Neves, JFInborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.
Diagnostic and Treatment Challenge of Left Anomalous Bronchial Artery: A Case o...
Marujo, F; Gomes, FV; Rodrigues, F; Flores, P
Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a ...
Marujo, F; Costa, LC; Duarte, R; Brito, MJ; Cordeiro, A; Neves, C; Neves, JFAlthough bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease is classically associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an invasive meningococcal disease caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene.
Atypical Presentation of Langerhans Cell Histiocytocis
Marujo, F; Oliveira, MI; Martins, M; Brito, MJ
12-Year-Old Female with Mucocutaneous Lesions
Marujo, F; Conde, M; Ferreira, C; Cunha, I; Gouveia, C
Falência Vacinal na Doença Invasiva Pneumocócica DIP). Reportar e Investigar. Q...
Marujo, F; Costa, C; Ramirez, M; Melo Cristino, J; Brito, MJIntrodução: A vacina conjugada pneumococica 13-valente (VCP13V) foi comercializada em Portugal em 2010 e introduzida no PNV em Junho de 2015. As falências vacinais não põem em causa a eficácia global da vacina, mas devem ser reportadas e investigadas. Objetivos: Avaliar atitudes clínicas face a falências vacinais da VCP13V. Métodos: Estudo retrospetivo, observacional e descritivo, de 2016 a 2018, de doentes com...