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Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kühn J, Winzer S, Rusch S, Fliegauf M, Schäffer AA, Pfeffer S, Geiger R, Cavalié A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks AL, Peppers BP, Hostoffer RW, Puck JM, Zimmermann R, Grimbacher B. Schubert D, et al. Among authors: marks al. J Allergy Clin Immunol. 2018 Apr;141(4):1427-1438. doi: 10.1016/j.jaci.2017.06.042. Epub 2017 Aug 4. J Allergy Clin Immunol. 2018. PMID: 28782633 Free PMC article.
Common variable immunodeficiency associated with birdshot-like chorioretinopathy.
Oh J, Marks AL, Wessell KR, Tcheurekdjian H, Venglarcik J, Singerman LJ, Hostoffer RW Jr. Oh J, et al. Among authors: marks al. Ann Allergy Asthma Immunol. 2014 May;112(5):472-4. doi: 10.1016/j.anai.2014.01.027. Epub 2014 Mar 13. Ann Allergy Asthma Immunol. 2014. PMID: 24631184 No abstract available.
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.
Meyer-Bahlburg A, Renner ED, Rylaarsdam S, Reichenbach J, Schimke LF, Marks A, Tcheurekdjian H, Hostoffer R, Brahmandam A, Torgerson TR, Belohradsky BH, Rawlings DJ, Ochs HD. Meyer-Bahlburg A, et al. J Allergy Clin Immunol. 2012 Feb;129(2):559-62, 562.e1-2. doi: 10.1016/j.jaci.2011.09.017. Epub 2011 Oct 26. J Allergy Clin Immunol. 2012. PMID: 22030463 No abstract available.
What is your diagnosis? Plasma cell neoplasia.
Marks AL, Gaschen L, Tully TN, Grasperge BJ, Rich GA. Marks AL, et al. J Am Vet Med Assoc. 2010 Nov 1;237(9):1033-4. doi: 10.2460/javma.237.9.1033. J Am Vet Med Assoc. 2010. PMID: 21034339 Free article. No abstract available.