Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility.

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This case shows that when a 16p11.2 deletion occurs together with a rare change in the CORO1A immune‑system gene, a child may be at risk for immune and blood‑cell functioning problems, helping families and doctors understand why children with 16p11.2 may sometimes need extra immune monitoring, genetic work‑ups beyond the CNV, and highly personalized care rather than assuming all health concerns come from the 16p11.2 deletion alone.