We studied a kindred with CTLA4 haploinsufficiency (heterozygous c.152_ins+GA), and generated normalized heat-maps of the heterozygous proband (profound hypogammaglobulinaemia, enteropathy and interstitial lung disease), the heterozygous brother (minimal clinical manifestations), and the unaffected adult daughter who did not carry the variant CTLA4 allele (Figure 5). The gene discussed is CTLA4; the disease is Abnormal intestine morphology.