Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.
作者信息
Hsu Amy P, West Robert R, Calvo Katherine R, Cuellar-Rodriguez Jennifer, Parta Mark, Kelly Susan J, Ganson Nancy J, Hershfield Michael S, Holland Steven M, Hickstein Dennis D
机构信息
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md.
出版信息
J Allergy Clin Immunol. 2016 Aug;138(2):628-630.e2. doi: 10.1016/j.jaci.2016.03.016. Epub 2016 Apr 6.
Abstract
摘要
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本文引用的文献
1
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.皮肤结节性多动脉炎中 ADA2 缺乏的皮肤表现。
JAMA Dermatol. 2015 Nov;151(11):1230-4. doi: 10.1001/jamadermatol.2015.1635.
2
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.造血干细胞移植可挽救腺苷脱氨酶2缺乏症患者的免疫表型并预防血管病变。
J Allergy Clin Immunol. 2015 Jan;135(1):283-7.e5. doi: 10.1016/j.jaci.2014.10.010. Epub 2014 Nov 25.
3
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.GATA2 缺陷相关的骨髓疾病不同于特发性再生障碍性贫血。
Blood. 2015 Jan 1;125(1):56-70. doi: 10.1182/blood-2014-06-580340. Epub 2014 Oct 30.
4
Mutant ADA2 in vasculopathies.血管病变中的突变型ADA2
N Engl J Med. 2014 Jul 31;371(5):478. doi: 10.1056/NEJMc1405506.
5
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.突变的腺苷脱氨酶 2 与结节性多动脉炎血管病变。
N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.
6
Early-onset stroke and vasculopathy associated with mutations in ADA2.早发性卒中和与 ADA2 突变相关的血管病变。
N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.
7
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.GATA2 突变在从轻症慢性中性粒细胞减少症进展为单克隆巨噬细胞增生症、骨髓增生异常和急性髓系白血病的患者中高频发生。
Blood. 2013 Jan 31;121(5):822-9. doi: 10.1182/blood-2012-08-447367. Epub 2012 Dec 6.
8
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.GATA2 基因突变与常染色体显性遗传和散发性单核细胞减少症和分枝杆菌感染（MonoMAC）综合征有关。
Blood. 2011 Sep 8;118(10):2653-5. doi: 10.1182/blood-2011-05-356352. Epub 2011 Jun 13.
9
Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities.原发性免疫缺陷综合征患者的腺苷脱氨酶：血清 ADA1 和 ADA2 活性分析。
Clin Biochem. 2009 Sep;42(13-14):1438-43. doi: 10.1016/j.clinbiochem.2008.10.019. Epub 2008 Nov 8.
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