Immunodeficiency-121 with autoinflammation (IMD121) is a complex immunologic disorder characterized clinically by T-, B-, NK+/- severe combined immunodeficiency (SCID) associated with failure to thrive, erythrodermia, diarrhea, and alopecia. Symptom onset is in early infancy. Laboratory studies show lymphopenia with reduced or absent B cells, decreased T cells, skewed T-cell repertoire, and eosinophilia. Treatment with hematopoietic stem cell transplant (HSCT) is often complicated by severe inflammatory post-transplant complications (van der Made et al., 2024). [from
OMIM]