Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

Abstract excerpt

Significance Only ∼5% of individuals infected with Mycobacterium tuberculosis develop clinical TB in their lifetime. We previously reported that homozygosity for the P1104A variant of the TYK2 gene, found in ∼1/600 Europeans and ∼1/5,000 individuals from elsewhere (except East Asians and sub-Saharan Africans), was a monogenic etiology of TB in a genetically heterogeneous cohort of patients from non-European...

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