Citations for
1CORO1A, IMD8
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.
Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J.
J Allergy Clin Immunol 137(3):879-88.e2. doi: 10.1016/j.jaci.2015.08.020. Epub 2015 Oct 21. 2016
2CORO1A, IMD8
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM.
J Clin Immunol 34(7):871-90. doi: 10.1007/s10875-014-0074-8. Epub 2014 Jul 30. 2014
3CORO1A, IMD8
The expanding spectrum of human coronin 1A deficiency.
Moshous D, de Villartay JP.
Curr Allergy Asthma Rep 14(12):481. doi: 10.1007/s11882-014-0481-1. Review. 2014
4CORO1A, IMD8
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM.
Clin Immunol 131(1):24-30. doi: 10.1016/j.clim.2008.11.002. Epub 2008 Dec 20. 2009
5CORO1A, IMD8
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Shiow LR, Roadcap DW, Paris K, Watson SR, Grigorova IL, Lebet T, An J, Xu Y, Jenne CN, Föger N, Sorensen RU, Goodnow CC, Bear JE, Puck JM, Cyster JG.
Nat Immunol 9(11):1307-15. doi: 10.1038/ni.1662. Epub 2008 Oct 5. 2008