Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature-Reference-Cited by-同舟云学术

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature

Published:2016-04-13 Issue:5 Volume:36 Page:462-471
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Petrovski Slavé,Parrott Roberta E.,Roberts Joseph L.,Huang Hongxiang,Yang Jialong,Gorentla Balachandra,Mousallem Talal,Wang Endi,Armstrong Martin,McHale Duncan,MacIver Nancie J.,Goldstein David B.,Zhong Xiao-Ping,Buckley Rebecca H.

Funder

Baxter Healthcare Grant

NIH Grant

UCB Celltech

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-016-0281-6.pdf

Reference30 articles.

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3. Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency. Nat Immunol. 2014;15(1):88–97.

4. Kracker S, Curtis J, Ibrahim MA, Sediva A, Salisbury J, Campr V, et al. Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome. J Allergy Clin Immunol. 2014;134(1):233–6.

5. Crank MC, Grossman JK, Moir S, Pittaluga S, Buckner CM, Kardava L, et al. Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol. 2014;34(3):272–6.

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