[CIS PIDD] [cis-pidd] CTLA4 mutation

[CIS-PIDD]

Dear All,


We need help on a patient we received in our Department. He is a 20 yo, white man with CVID and a long history of passing loose stools. A colonoscopy showed nodular lymphoid hyperplasia. He is on monthly IVIG.  A mutation in CTLA4 was detected (another Hospital) as follows


Exon 3, heterozygous, position 475 of coding DNA (NM_005214.4 c475 G>T)  changing Asp 159 Tyr, not described associated to haploinsufficiency yet.


A CTLA4 expression assay was conducted, stimulating CD4+ cells with PMA for five hours. Mean fluorescent intensity of CTLA4 of patients´ lymphocytes was 2440 (79% cells +), while control 1 was 4690 (75%) and control 2 was 4370 (72%).


We wonder is these two pieces of data can be taken as conclusive evidence to confirm the CTLA4 mutation as functional. Also, what further studies should be done and how this patient should be managed.


Thank you very much


Alejandro Malbran






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