Multisystem autoimmune disease with facial dysmorphism (ADMFD)
Autoimmune interstitial lung, joint, and kidney disease (AILJK)
Autoimmune disease, susceptibility to (AIS)
Autoimmune disease with susceptibility to mycobacterium tuberculosis (AIMTBS)

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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

Nat Genet 47:654-60 (2015)
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Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo.

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Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Nature 466:243-7 (2010)
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Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Hosnut FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Beziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.

Nat Med 27:1646-1654 (2021)
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