Primary Immunodeficiency: New Approaches in Genetic Diagnosis, and Constructing Targeted Therapies

Henceforth, the IUIS met every few years to provide updates on primary immune deficiencies, particularly the molecular basis and classification of PIDD.4 Figure 1 shows a summary of the number of genetically inherited abnormalities associated with PIDDs from some 40 years ago to the most recent compilation of more than 354 gene mutations that have been defined.5 This issue of the Journal of Allergy and Clinical Immunology: In Practice presents articles on advances in the genetics, recognition, and treatment of PIDDs. The elucidation of the role of lipopolysaccharide-responsive beige-like anchor (LRBA) in recycling of cytotoxic T lymphocyte antigen-4 (CTLA-4) has allowed the development of novel approaches to the management of recently described primary immunodysregulatory diseases due to haploinsufficiency of CTLA-4 and the disorder associated with homozygous deficiency of LRBA. APDS is caused by gain-of-function mutations in the genes encoding p110δ (PIK3CD) catalytic subunit and p85 (PIK3R1) regulatory subunit of phosphoinositide 3-kinase. [...]these clinical immunologists visit the future of VST-cell therapy for patients with PIDDs.