[CIS PIDD] [cis-pidd] CTLA4 mutation

[CIS-PIDD]

Hello Alejandro, I did those studies at Hospital de Niños Ricardo
Gutiérrez. I would have love to go deeper in the functionality and to study
further the family, but at that moment the parents didn`t want to keep
going. If they are willing now I will be happy to complete studies to see
if we can decide if it is pathogenic or not.

Regarding the management, I’m not a physician so I can’t really help you.

Let me know!

Best regards

María Esnaola Azcoiti

2017-07-21 18:00 GMT-03:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:

> 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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