Please guide me about PNP immunodeficiency disease.

Question

Hello doctor,

My 5-year-old son was diagnosed with PNP immunodeficiency three years ago. This was diagnosed after a battle with Baylisascaris that he survived. He has recently been diagnosed with ME polyomavirus in his brain and LP fluids.

He was the first case in history in my residential area. The chickenpox vaccine caused VZV, and he got shingles every six months after the initial breakout, which spread from his ocular area into his brain and spinal fluid. I am looking for any documentation or information I can use to educate myself.

His bone marrow transplant has been postponed until further testing. Currently, he is taking Gabapentin, Albendazole, Valacyclovir, Phenobarbital, Fluconazole, Levetiracetam, and Trimethoprim.

Kindly help

Answer 1

Hello,

Welcome to icliniq.com.

PNP deficiency is a very rare condition in which the body is unable to produce certain immunity-related cells called T cells. This happens due to some gene defects and is usually inherited. (But parents might not be affected).

This causes the child to get frequent infections involving different body organs, especially the brain, lungs, etc., causing much sickness. The child would be prone to unusual infections also, as the body's mechanism to take care of infection is not complete.

Till today, the only curative option is a hematopoietic stem cell transplant, which carries the risk of failure and side effects. Otherwise, the condition is life-threatening, and children might succumb in the first or second decades of life.

He is being treated for his brain infection and its complications presently. I am afraid the disease has few treatment options and is mostly symptomatic.

I hope this information is helpful.

Please do not hesitate to contact me if you need to know anything else; I would be happy to answer.

Thank you.