Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).

*Peripheral neutrophils were supported pretransplant by recombinant granulocyte colony stimulating factor. Post-transplant parameters were obtained at 18 months (FBC and T-cell indices, lung function) or 21 months post-HSCT (B cell and antibody indices). Post-HSCT antibody indices were measured during concomitant subcutaneous immunoglobulin supplementation. No other autoantibodies were detected pre-HSCT or post-HSCT. FBC, full blood count; FEV1, forced expiratory volume in 1 s; GAD, glutamic acid decarboxylase; HLA-DR, human leucocyte antigen–antigen D related; HSCT, haematopoietic stem cell transplantation; ND, not done; pANCA, perinuclear anti neutrophil cytoplasmic antibody. Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20)