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Medical oddity ushers in discovery of unheard-of 'immunity gene' mutations — and a better way to screen them

Medical oddity ushers in discovery of unheard-of immunity gene mutations and a better way to screen them Researchers baffled by an infant’s rare encephalitis case unusual in children found unheard-of mutations and a new way to examine the “immunity gene.” Brain MRI of the 10-month old boy with anti-NMDAR encephalitis obtained on day 4. The axial T2 weighted image (T2WI) in A and B and the axial fluid attenuation inversion recovery (FLAIR) image in C and D showed high intensity regions in the bilateral thalamus. New “immunity gene” mutations that researchers discovered to be deleterious were found in the infant.

Medical oddity reveals unheard-of 'immunity gene' mutations and new way to screen them

 E-Mail IMAGE: Brain MRI of the 10-month old boy with anti-NMDAR encephalitis obtained on day 4. The axial T2 weighted image (T2WI) in A and B and the axial fluid attenuation inversion. view more  Credit: Satoshi Okada An infant s odd case of rare encephalitis not typically found in children led researchers to discover never before seen genetic mutations and a more accurate technique to examine the IRAK4 gene responsible for innate immunity. The IRAK4 gene instructs the production of a protein that plays a key role in the early recognition and response to invading pathogens. Inherited mutations in this gene can cause an immune system disorder that leaves the body susceptible to recurrent infections of pus-forming pyogenic bacteria. Cases of IRAK4 deficiency are quite rare and only about 10 familial instances were identified so far in Japan.

Medical oddity ushers in discovery of unheard-of 'immunity gene' mutations—and a better way to screen them

Researchers discover more accurate technique to study gene responsible for innate immunity

Researchers discover more accurate technique to study gene responsible for innate immunity An infant s odd case of rare encephalitis not typically found in children led researchers to discover never before seen genetic mutations and a more accurate technique to examine the IRAK4 gene responsible for innate immunity. The IRAK4 gene instructs the production of a protein that plays a key role in the early recognition and response to invading pathogens. Inherited mutations in this gene can cause an immune system disorder that leaves the body susceptible to recurrent infections of pus-forming pyogenic bacteria. Cases of IRAK4 deficiency are quite rare and only about 10 familial instances were identified so far in Japan.