The monoallelic IRF8 variant identified was therefore first viewed skeptically, as MSMD, including disseminated infection with minimally pathogenic mycobacteria like Bacillus Calmette-Guérin, was reported as a hallmark feature in cases of autosomal dominant and recessive IRF8 deficiency (18, 21). The gene discussed is IRF8; the disease is hyperinsulinemic hypoglycemia, familial, 4.