Rare variants at 16p11.2 are associated with common variable immunodeficiency.

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This study shows that some genetic changes in the 16p11.2 region are linked to immune system weaknesses (like frequent infections or poor antibody responses), helping families affected by 16p11.2 syndromes know to watch for signs of immune problems and consider discussing immune screening or specialist referrals with their child’s care team rather than focusing only on learning or behavior.