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Clinical Challenges: Identification of Patients with Novel Primary Immunodeficiency Syndromes

Novel primary immunodeficiency disorders are being identified with next generation sequencing technologies. We describe one patient with cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency who had recurrent enhancing brain lesions, nodular pulmonary infiltrates, hepatosplenomegal...

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Detalhes bibliográficos
Publicado no:J Pediatr Hematol Oncol
Main Authors: Buchbinder, David, Seppanen, Mikko, Rao, V. Koneti, Uzel, Gulbu, Nugent, Diane
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5984070/
https://ncbi.nlm.nih.gov/pubmed/29200144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPH.0000000000001003
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