BSPGHAN 2021 Virtual Annual Meeting

27- 29 April 2021

FIRST REPORTED CASE OF AN INTERLEUKIN-2 RECEPTOR ß DEFICIENCY IN AN INFANT BORN TO NON- CONSANGUINEOUS PARENTS, PRESENTING WITH FAILURE TO THRIVE AND ENTEROPATHY

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David Campbell
David Campbell
18 days ago

Thank you and this is very helpful. Please feel free to ignore the questions if you do not have an answer.
Did the pulsing with methyl prednisolone improve GI function? Did you have evidence of colitis (Faecal calprotectin 777 post steroids)?
With the loss of il-2 beta chain, did you lose CD25 positivity (as you would do with Il-2 alpha chain deficiency)? Is this a Treg negative condition?
What was the final indication for transplant? Is there enough known about this condition or was it a complication of dysregulation or PN dependency?
If immunosuppressive response, weight catching up and normal development I am interested to know what the final indication was?
Sorry for the questions but this is interesting.
Surface vacuolisation of villous enterocytes is unusual. Did you have EM to show what the vacuoles or vesicles might have been?
Do you know whether increased apoptosis was observed.

Katherine Cornelius
Katherine Cornelius
17 days ago
Reply to  David Campbell

Thank you very much for looking at and commenting on our poster. 
I will try my best to answer as many of your questions as possible, having consulted my expert co-authors.

The indication for transplant was helped by knowing the condition and risk of further infections with immunosuppression. The patient was improving with immunosuppression and without rapid access to genetics, we would have moved to biologics. Susceptibility to herpesviruses had been described (Zhang et al) and the patient did become symptomatic of CMV just prior to transplant. The concern knowing the defect, was being able to sustain immunosuppression with the risks of infection. 

There was no EM unfortunately, and no evidence of increased apoptosis. 

I will need a bit more time to answer the other questions regarding CD25/Tregs, but I would be happy to review the patient’s results and literature and get back to you with an answer at a later date.