A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis

Recombination-activating gene 1(RAG1)mutations in humans vary in residual recombination activity and result in heterogeneous clinical phenotypes[1,2].In recent years,RAG deficiency with a milder clinical course and delayed presentation has been reported.These patients present with generalized granulomas,severe complications after viral infections,hypogammaglobulinemia,and various autoimmune manifestations(such as cytopenias,vitiligo,psoriasis,myasthenia gravis,and Guillain-Barre syndrome)[3-17].