In comparison to CD patients and healthy donors, we furthermore detected a high expression of the activation marker CD38 on CD11b+CD86+, T and NK cells in the AGLCD patient (Fig. 1g, i–k), which has previously been linked to the development of lipodystrophy in HIV patients receiving anti-retroviral therapy23 and to intestinal inflammation in human and mice24 as DSS-induced colitis is attenuated in CD38−/− mice25. The gene discussed is ITGAM; the disease is Cowden disease.