HomeAnswersPediatricspnp deficiencyKindly update me about PNP immunodeficiency disease.

Please guide me about PNP immunodeficiency disease.

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The following is an actual conversation between an iCliniq user and a doctor that has been reviewed and published as a Premium Q&A.

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Published At March 29, 2017
Reviewed AtSeptember 8, 2023

Patient's Query

Hello doctor,

My 5-year-old son was diagnosed with PNP immunodeficiency three years back. This was diagnosed after a battle of 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. VZV was caused by chickenpox vaccine and getting shingles every six months after the initial break out which spread to his ocula into his brain and spinal fluid. I am looking for any documentation or information I can educate myself with. His bone marrow transplant has been postponed until further testing. Please help. Currently, he is taking Gabapentin, Albendazole, Valacyclovir, Phenobarbital, Fluconazole, Levetiracetam, Trimethoprim.

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. Child would be prone to unusual infections also, as the body mechanism to take care of infection is not complete. Till today, the only curative option is 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 little treatment options and is mostly symptomatic.

The Probable causes

Genetic.

Same symptoms don't mean you have the same problem. Consult a doctor now!

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Dr. Nagasirisha Naredla

Pediatrics

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