Our two truncating mutations, located close to the N‐terminal of protein, likely remove critical domains and affect protein kinase regulatory subunit (RII) binding motifs, resulting in loss‐of‐function in LRBA. The two variants are in close proximity to mutations found in LRBA‐deficient patients in the study of Charbonnier et al. (2015) and Lopez‐Herrera et al. (2012), in which the patients share similar clinical features, including immune dysregulation and Treg deficiency; polyendocrinopathy and enteropathy. The gene discussed is WEE1; the disease is Abnormal intestine morphology.