Association·arcadia

NCKAP1L defects cause immunodeficiency and hyperinflammation syndrome

Claim that NCKAP1L defects cause a clinical syndrome with immunodeficiency, lymphoproliferation, and hyperinflammation.

Confidence
80%
active

Evidence Quote

NCKAP1L defects cause immunodeficiency, lymphoproliferation, and hyperinflammation.

Relationship

NCKAP1L protein causes Immunodeficiency, lymphoproliferation, and hyperinflammation syndrome

Evidence

Reference to Castro et al. (2020) on NCKAP1L defects causing a novel immunodeficiency syndrome.

Castro CN et al. (2020). NCKAP1Ldefects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation doi:10.1084/jem.20192275