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Truncating Mutations in SAMD9L Cause an Early-Onset Immune-Dysregulatory Syndrome of Neutrophilic Panniculitis, Interstitial Lung Disease and Cytopenias

Program: Scientific Workshops @ ASH
Session: SAMD9/SAMD9L Syndrome: Clinical and Biological Aspects
Friday, December 4, 2020, 7:52 AM-8:32 AM

Adriana Almeida De Jesus, MD, PhD

NIAID, National Institutes of Health, Bethesda, MD

Disclosures: No relevant conflicts of interest to declare.

OffLabel Disclosure: Baricitinib was used in one patient.

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