Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common &lt;i&gt;TYK2&lt;/i&gt; missense variant.

S, Boisson-Dupuis; N, Ramirez-Alejo; Z, Li; E, Patin; G, Rao; G, Kerner; CK, Lim; DN, Krementsov; N, Hernandez; CS, Ma; Q, Zhang; J, Markle; R, Martinez-Barricarte; K, Payne; R, Fisch; C, Deswarte; J, Halpern; M, Bouaziz; J, Mulwa; D, Sivanesan; T, Lazarov; R, Naves; P, Garcia; Y, Itan; B, Boisson; A, Checchi; F, Jabot-Hanin; A, Cobat; A, Guennoun; CC, Jackson; S, Pekcan; Z, Caliskaner; J, Inostroza; BT, Costa-Carvalho; Albuquerque JAT, de; H, Garcia-Ortiz; L, Orozco; T, Ozcelik; A, Abid; IA, Rhorfi; H, Souhi; HN, Amrani; A, Zegmout; F, Geissmann; SW, Michnick; I, Muller-Fleckenstein; B, Fleckenstein; A, Puel; MJ, Ciancanelli; N, Marr; H, Abolhassani; ME, Balcells; A, Condino-Neto; A, Strickler; K, Abarca; C, Teuscher; HD, Ochs; I, Reisli; EH, Sayar; J, El-Baghdadi; J, Bustamante; L, Hammarström; SG, Tangye; S, Pellegrini; L, Quintana-Murci; L, Abel; JL, Casanova

doi:10.1126/sciimmunol.aau8714

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Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common <i>TYK2</i> missense variant.

Published in Science immunology • Dec 1, 2018

Authors:

Boisson-Dupuis S

Ramirez-Alejo N

Li Z

Abstract

Inherited IL-12Rβ1 and TYK2 deficiencies impair both IL-12- and IL-23-dependent IFN-γ immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 individuals. We show that homozygosity for the common <i>TYK2</i> P1104A allele, which is found in about 1/600 Europeans and...

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