CORO1A Deficiency
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_35-1
Reference7 articles.
1. Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D et al (2013) Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J Allergy Clin Immunol 131(6):1594–1603
2. Nal B, Carroll P, Mohr E, Verthuy C, Da Silva MI, Gayet O et al (2004) Coronin-1 expression in T lymphocytes: insights into protein function during T cell development and activation. Int Immunol 16(2):231–240
3. Orphanet. Severe combined immunodeficiency due to CORO1A deficiency. 2019-03-31. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228003
4. Shiow LR, Roadcap DW, Paris K, Watson SR, Grigorova IL, Lebet T et al (2008) The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat Immunol 9(11):1307–1315
5. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN et al (2014a) Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol 34(7):871–890
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