Abstract Number: 2655 • 2012 ACR/ARHP Annual Meeting
Rapid and Effective Response to Immunosuppression in Treating Macrophage Activation Syndrome Associated with a Heterozygous Dominant Negative Mutation in RAB27a Leading to Decreased Cytolytic Activity
Background/Purpose: Hemophagocytic lymphohistiocytosis (HLH) is an often fatal disorder of infancy resulting from homozygous mutations in proteins involved in cytolysis (e.g. MUNC13-4, RAB27a, Perforin 1,…
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