NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

Biallelic mutations in NCKAP1L, a regulator of the actin cytoskeleton, cause immunodeficiency, lymphoproliferation, and hyperinflammation with features of hemophagocytic lymphohistiocytosis. Impaired immune synapse formation, early T cell activation and leading edge formation, and defective neutrophil migration characterize this novel “actinopathy.”

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