Thus, we present case 1 (CTLA-4 haploinsufficiency) and case 2 (CTLA-4 insufficiency-like phenotype), both manifested with autoimmune cytopenia, enteropathy, and lymphoproliferation, with typical lung and central nervous system (CNS) involvement, and variable impairment of humoral responses. This evidence concerns the gene CTLA4 and Abnormal intestine morphology.