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First case of CD40LG deficiency in Ecuador, diagnosed after whole exome sequencing in a patient with Severe Cutaneous Histoplasmosis
ArticleAbstract: Severe infections with Histoplasma capsulatumare commonly observed in patient with secondary immunodPalabras claves:CD40LG, Histoplasmosis, Hyper-IgM syndrome, Primary immunodeficiency diseases, Whole exome sequencingAutores:Akdemir Z.C., Chinn I.K., Jhangiani S.N., Luis Alberto Pedroza, Lupski J.R., Muñoz G., Nina Guerrero, Orange J.S., Roque Macias, Stray-Pedersen A., Tafur C., Watkin L.B.Fuentes:scopusWhole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: A case report
ArticleAbstract: Background: Acute disseminated encephalomyelitis is generally preceded by an infection, and it is usPalabras claves:Acute disseminated encephalomyelitis, ADEM, ADEM-ON, Case report, Familial cold autoinflammatory syndrome, FCAS2, NLRP12, Optic neuritis, Periodic fever syndrome, Whole exome sequencingAutores:Burbano M., Juan Carlos Guerra, Luis Alberto Pedroza, Pablo A. Ledesma, Procel P.Fuentes:scopus