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Items: 9

1.

Ocular Manifestations of Inherited Phospholipase-Cγ2-Associated Antibody Deficiency and Immune Dysregulation.

Di Zazzo A, Tahvildari M, Florakis GJ, Dana R.

Cornea. 2016 Dec;35(12):1656-1657. doi: 10.1097/ICO.0000000000000951. Review.

2.

Cool-temperature-mediated activation of phospholipase C-γ2 in the human hereditary disease PLAID.

Schade A, Walliser C, Wist M, Haas J, Vatter P, Kraus JM, Filingeri D, Havenith G, Kestler HA, Milner JD, Gierschik P.

Cell Signal. 2016 Sep;28(9):1237-51. doi: 10.1016/j.cellsig.2016.05.010. Epub 2016 May 17.

PMID:
27196803
3.

Autoimmunity and Immune Dysregulation in Primary Immune Deficiency Disorders.

Lehman HK.

Curr Allergy Asthma Rep. 2015 Sep;15(9):53. doi: 10.1007/s11882-015-0553-x. Review.

PMID:
26233425
4.

PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.

Milner JD.

J Clin Immunol. 2015 Aug;35(6):527-30. doi: 10.1007/s10875-015-0177-x. Epub 2015 Jul 25. Review.

5.

Distinct Cutaneous Manifestations and Cold-Induced Leukocyte Activation Associated With PLCG2 Mutations.

Aderibigbe OM, Priel DL, Lee CC, Ombrello MJ, Prajapati VH, Liang MG, Lyons JJ, Kuhns DB, Cowen EW, Milner JD.

JAMA Dermatol. 2015 Jun;151(6):627-34. doi: 10.1001/jamadermatol.2014.5641.

6.

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation.

Chae JJ, Park YH, Park C, Hwang IY, Hoffmann P, Kehrl JH, Aksentijevich I, Kastner DL.

Arthritis Rheumatol. 2015 Feb;67(2):563-7.

7.

The autoinhibitory C-terminal SH2 domain of phospholipase C-γ2 stabilizes B cell receptor signalosome assembly.

Wang J, Sohn H, Sun G, Milner JD, Pierce SK.

Sci Signal. 2014 Sep 16;7(343):ra89. doi: 10.1126/scisignal.2005392.

8.

Hereditary disorders presenting with urticaria.

Kanazawa N.

Immunol Allergy Clin North Am. 2014 Feb;34(1):169-79. doi: 10.1016/j.iac.2013.08.001. Epub 2013 Sep 26. Review.

PMID:
24262697
9.

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD.

N Engl J Med. 2012 Jan 26;366(4):330-8. doi: 10.1056/NEJMoa1102140. Epub 2012 Jan 11.

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