Two heterozygous pathogenic variants in the LRBA gene suggest a compound heterozygous genotype that leads to immunodeficiency, common variable, 8, with autoimmunity (OMIM #614700), which confirm the genotype–phenotype correlation, since patient 11 presented several disorders resulting from autoimmune manifestation as diabetes mellitus, pancytopenia/bicytopenia, hypothyroidism and celiac disease [59–61]. This evidence concerns the gene LRBA and immune system disorder.