Improving Diagnosis of Autoimmune Lymphoproliferative Immunodeficiency by Phenotype and Genotype Characterization

Inborn errors of immunodeficiency (IEI) that present with benign lymphoproliferation and immune cytopenia vary in severity and can be difficult to diagnose and treat. IEIs that present with mutations in the Fas signaling pathway are known as autoimmune lymphoproliferative syndrome (ALPS), which has a benign clinical course, and those without such mutations are known as ALPS-like diseases, which can be fatal and require curative therapy with hematopoietic stem cell transplant. These researchers suggested a new umbrella term — autoimmune lymphoproliferative immunodeficiency (ALPID) phenotype — for the spectrum of these conditions.

In a prospective, observational study, the researchers evaluated clinical, immunological, and genetic features for…