Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function

Author:

Guess Rachel,Harocopos George,Bednarski Jeffrey J.,Hassmann Lynn M.,Bigley Tarin M.ORCID

Funder

Children's Discovery Institute

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Reference9 articles.

1. Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD. Loss of B cells in patients with heterozygous mutations in IKAROS. N Engl J Med. 2016;374(11):1032–43. https://doi.org/10.1056/NEJMoa1512234.

2. Kuehn HS, Nunes-Santos CJ, Rosenzweig SD. IKAROS-associated diseases in 2020: genotypes, phenotypes, and outcomes in primary immune deficiency/inborn errors of immunity. J Clin Immunol. 2021;41(1):1–10. https://doi.org/10.1007/s10875-020-00936-x.

3. Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Kobayashi M, Nakamura H, Kamizono J, Mitsui-Sekinaka K, Ichimura T, Ohga S, Nakazawa Y, Takagi M, Imai K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H. Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. J Allergy Clin Immunol. 2017;140(1):223–31. https://doi.org/10.1016/j.jaci.2016.09.029.

4. Hoshino A, Boutboul D, Zhang Y, Kuehn HS, Hadjadj J, Özdemir N, Celkan T, Walz C, Picard C, Lenoir C, Mahlaoui N, Klein C, Peng X, Azar A, Reigh E, Cheminant M, Fischer A, Rieux-Laucat F, Callebaut I, Hauck F, Milner J, Rosenzweig SD, Latour S. Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation. Sci Immunol. 2022;7(69):eabi7160. https://doi.org/10.1126/sciimmunol.abi7160.

5. Nelson CA, Zhong CS, Hashemi DA, et al. A multicenter cross-sectional study and systematic review of necrobiotic xanthogranuloma with proposed diagnostic criteria. JAMA Dermatol. 2020;156(3):270–9. https://doi.org/10.1001/jamadermatol.2019.4221.

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3