Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma.
Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma.
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B淋巴细胞白血病和EBV相关的弥漫性大B细胞淋巴瘤患者的复合杂合DOCK8突变。
DOI：
10.1007/s10875-019-00663-y
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发表时间：
2019-08
影响因子：
9.1
通讯作者：
Su HC
中科院分区：
文献类型：
--
作者：
Buchbinder D;Kirov I;Danielson J;Shah NN;Freeman AF;Chavan RS;Su HC
Mutations in Dedicator of cytokinesis 8 (DOCK8) are a rare cause of combined immunodeficiency associated with atopy, infectious susceptibility, and risk for malignancy. We describe a 22-year-old male with a diagnosis of B cell lymphoblastic leukemia followed by Epstein-Barr virus (EBV)-associated diffuse large B cell lymphoma (DLBCL) with compound heterozy-gous mutations in DOCK8 and normal intracellular DOCK8 protein expression. Here, B cell lymphoblastic leukemia followed by EBV-associated DLBCL led to the discovery of DOCK8 deficiency. For instances of high clinical suspicion despite normal DOCK8 protein expression, additional functional testing is critical to make a diagnosis. Understanding the spectrum of DOCK8 mutants and their phenotypes will improve our understanding of DOCK8 deficiency.
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影响因子：
5.4
作者：
Lambe, Teresa;Crawford, Greg;Johnson, Andy L.;Crockford, Tanya L.;Bouriez-Jones, Tiphaine;Smyth, Aisling M.;Pham, Trung H. M.;Zhang, Qian;Freeman, Alexandra F.;Cyster, Jason G.;Su, Helen C.;Cornall, Richard J.
通讯作者：
Cornall, Richard J.
DOI：
10.1016/j.jaci.2014.12.1945
发表时间：
2015-08
期刊：
The Journal of allergy and clinical immunology
影响因子：
--
作者：
Engelhardt KR;Gertz ME;Keles S;Schäffer AA;Sigmund EC;Glocker C;Saghafi S;Pourpak Z;Ceja R;Sassi A;Graham LE;Massaad MJ;Mellouli F;Ben-Mustapha I;Khemiri M;Kilic SS;Etzioni A;Freeman AF;Thiel J;Schulze I;Al-Herz W;Metin A;Sanal Ö;Tezcan I;Yeganeh M;Niehues T;Dueckers G;Weinspach S;Patiroglu T;Unal E;Dasouki M;Yilmaz M;Genel F;Aytekin C;Kutukculer N;Somer A;Kilic M;Reisli I;Camcioglu Y;Gennery AR;Cant AJ;Jones A;Gaspar BH;Arkwright PD;Pietrogrande MC;Baz Z;Al-Tamemi S;Lougaris V;Lefranc G;Megarbane A;Boutros J;Galal N;Bejaoui M;Barbouche MR;Geha RS;Chatila TA;Grimbacher B
通讯作者：
Grimbacher B
影响因子：
14.2
作者：
Jing, Huie;Zhang, Qian;Su, Helen C.
通讯作者：
Su, Helen C.
DOI：
10.1056/nejmoa0905506
发表时间：
2009-11-19
期刊：
The New England journal of medicine
影响因子：
--
作者：
Zhang Q;Davis JC;Lamborn IT;Freeman AF;Jing H;Favreau AJ;Matthews HF;Davis J;Turner ML;Uzel G;Holland SM;Su HC
通讯作者：
Su HC
影响因子：
9.1
作者：
Zhang Q;Jing H;Su HC
通讯作者：
Su HC