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Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review

Sara Ganhão, Graça Loureiro, Diana Rita Oliveira, Rúben dos-Reis-Maia, Francisca Aguiar, Rita Quental, Carla Pinto Moura, João Luís Barreira, Mariana Rodrigues, Iva Brito

2020Clinical Rheumatology23 citationsDOI

Topics & Concepts

Polyarteritis nodosaMedicineAdenosine deaminase deficiencyPhenotypeDiseaseGeneGeneticsImmunologyAdenosine deaminasePathologyVasculitisInternal medicineBiologyAdenosineVasculitis and related conditionsAdenosine and Purinergic SignalingComplement system in diseases
Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review | Litcius