Skip to Main Content
Table I.

Autoantibodies in patients with hypomorphic RAG mutations

Patients n n (%) with autoantibodies Specificity 
RAG deficiency    
OS/LS 14 9 (64.3) Five ANA, four TPO, two pANCA, one TG, and one OmpC 
T B SCID 0 (0)  
SCIDX1 14 0 (0)  
Controls 1 (16.7) ANA 
Patients n n (%) with autoantibodies Specificity 
RAG deficiency    
OS/LS 14 9 (64.3) Five ANA, four TPO, two pANCA, one TG, and one OmpC 
T B SCID 0 (0)  
SCIDX1 14 0 (0)  
Controls 1 (16.7) ANA 

OS, Omenn syndrome; LS, leaky SCID; TPO, thyroid peroxidase; pANCA, perinuclear anti-neutrophil cytoplasmic antibody; TG, thyroglobulin; and OmpC, outer membrane porin protein C.

Close Modal

or Create an Account

Close Modal
Close Modal