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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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Podrobná bibliografie
Vydáno v:J Pediatr Hematol Oncol
Hlavní autoři: Buchbinder, David, Seppanen, Mikko, Rao, V. Koneti, Uzel, Gulbu, Nugent, Diane
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
Témata:
On-line přístup: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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