Can heterozygous mutation of JAK3 cause any or partial immune deficiency?

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Could the desmin mutation in myofibrillar myopathy be caused by an infection?

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John Schloendorn

Sure, why not? You have all manner interleukins talking through Jak3. If the mutation reduces the protein concentration, or is dominant, all that is going to be affected. What is your context -- has such a thing not been described before?

Alan Carifio

I was diagnosed (Boston Childrens Hospital) last year "heterozygous for a mutation in JAK3 (3096 +18A greater than G)". I am 61 years old. I have had a lifetime of immune related problems. 1. Lifelong T-cell deficiency & chronic lymphopenia, 2. pediatric pulmonary Tuberculosis (age 4), 3. Regional Enteritis - Crohns, 4. MGUS, 5. Severe EBV infection in college, 6. Chronic Low IGA & IGM, 7. Barratts Esophogus to name a few. Thank you.....any comments?