Abstract
Hydroxychloroquine Does not Affect CTLA-4 Expression in LRBA Deficiency: Case Report from Siblings with LRBA Deficiency
Highlights
ShCoawsnetoRinehpiboirt tthe immune response by binding to the CD86 with higher affinity and removing it from the cell surface
Soluble IL-2 receptor levels decreased to 2228 pg/mL (Figure 2) and CRP decreased to normal level (0.5 mg/dL)
LRBA deficiency is a rare genetic disease that leads to immune dysregulation due to defective intracellular trafficking of CTLA-4 [7]
Summary
ShCoawsnetoRinehpiboirt tthe immune response by binding to the CD86 (on the antigen-presenting cell) with higher affinity and removing it from the cell surface. Lurie Children’s Hospital of Chicago, Chicago, Illinois, USA 6HYHUH&RPELQHG,PPXQRGH¿FLHQF\ 6&,' UHSUHVHQWVDJURXSRIGLVRUGHUVFKDUDFWHULVHGE\LPSDLUPHQWLQERWKFHOOXODUDQGKXPRUDOLPPXQLW\6&,'SDWLHQWV XVXDOO\SUHVHQWVHYHUHDQGOLIHWKUHDWHQLQJRSSRUWXQLVWLFLQIHFWLRQVIURPHDUO\LQIDQF\>@7%1.6&,'LVDVXEJURXSRI6&,'ZKLFKLVDQDXWRVRPDOUHFHVVLYH GLVHDVHRIZKLFKLVLGHQWL¿HGWRFDXVHE\PXWDWLRQVLQUHFRPELQDWLRQDFWLYDWLQJJHQHV RAG1 and RAG2 >@0\FREDFWHULDOLQIHFWLRQDIWHU%DFLOOXV&DOPHWWH T*oXHtUhLQe E%d&i*to YrDFFLQDWLRQLVDUDUHGLVRUGHURFFXUULQJPRVWO\LQSDWLHQWVZLWKLPPXQRGH¿FLHQF\LQVRPHFDVHVWKLVPD\HYHQOHDGWRGHDWK:HUHSRUWHGDFDVHRI VXFFHVVIXOKDQGOLQJRI%&*LQIHFWLRQLQDPRQWKROGJLUOZLWK7%1.6&,'FDXVHGE\DQRYHOPXWDWLRQLQRAG2 JHQH Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency is a rare autosomal recessive genetic disease that presents as a primary immunodeficiency and immune dysregulation caused by biallelic mutations in the LRBA gene [1]. LRBA deficiency leads to decreased CTLA-4 (cytotoxic T-lymphocyte-associated protein 4) expression on T regulatory cells (Tregs) due to defective intracellular trafficking of CTLA-4 protein [1,2].
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