One case of rare immunodeficiency with centromeric instability and facial anomalies syndrome type I and literature review

doi:10.19538/j.ek2022100617

Chinese Journal of Practical Pediatrics ›› 2022, Vol. 37 ›› Issue (10): 791-794.DOI: 10.19538/j.ek2022100617

Previous Articles Next Articles

One case of rare immunodeficiency with centromeric instability and facial anomalies syndrome type I and literature review

Online:2022-10-06 Published:2022-11-11

罕见免疫缺陷着丝粒不稳定和面部异常综合征1型1例并文献复习

华中科技大学同济医学院附属同济医院儿科，湖北武汉 430030

通讯作者: 周华，电子信箱：zhoushiyiyun@126.com

Abstract

Key words: ICF syndrome type 1, DNMT3B gene mutation, immunodeficiency

关键词: 免疫缺陷、着丝粒不稳定和面部异常综合征1型, DNMT3B基因突变, 免疫缺陷

LIU Ling-ling, ZHOU Hua. One case of rare immunodeficiency with centromeric instability and facial anomalies syndrome type I and literature review[J]. Chinese Journal of Practical Pediatrics, 2022, 37(10): 791-794.

刘玲玲 , 周　华. 罕见免疫缺陷着丝粒不稳定和面部异常综合征1型1例并文献复习[J]. 中国实用儿科杂志, 2022, 37(10): 791-794.

[1]	HU Jian. Primary immunodeficiency：Starting from digestive system disease [J]. CJPP, 2021, 36(7): 481-484.
[2]	LIN Yi，ZHANG Qiu-ye. Primary immunodeficiency disease and inflammatory bowel disease in children [J]. CJPP, 2021, 36(7): 485-490.
[3]	YANG Xi， TANG Xue-mei. Problems of liver and spleen related to inborn error of immunity [J]. CJPP, 2021, 36(7): 490-493.
[4]	GU Yu，SUN Jin-qiao. Primary immunodeficiency with malformation of gastrointestinal structure [J]. CJPP, 2021, 36(7): 494-497.
[5]	HE Ting-yan，YANG Jun. Chronic diarrhea and primary immunodeficiency [J]. CJPP, 2021, 36(7): 497-502.
[6]	LIU Li-pin*，YING Wen-jing，SUN Bi-jun，et al. Analysis of clinical characteristics of rotavirus infection in children with severe combined immunodeficiency disease　 [J]. CJPP, 2021, 36(5): 360-363.
[7]	ZHANG Jia-lu，WU Run-hui. Identifying primary immunodeficiencies in children with chronic immune thrombocytopenia [J]. CJPP, 2021, 36(2): 94-99.
[8]	YANG Mi，SUN Bi-jun，WANG Wen-jie，et al. Clinical features and gene analysis of three cases of immunodeficiency-centromeric instability-facial anomalies syndrome [J]. CJPP, 2021, 36(2): 115-120.
[9]	WU Jun-feng, ZHAO Xiao-dong, AN Yun-fei. Mechanisms of autoimmunity in patients with primary immunodeficiency disease and targeted therapies [J]. Chinese Journal of Practical Pediatrics, 2021, 36(11): 811-816.
[10]	ZHANG Wen-jing, ZHAO Xiao-dong, AN Yun-fei. Primary immunodeficiency disease and allergy [J]. Chinese Journal of Practical Pediatrics, 2021, 36(10): 796-800.
[11]	XUE Ren-jie，TIAN Man，ZHAO De-yu，et al. One case report on recurrent pneumonia due to DNA ligase Ⅳ deficiency [J]. CJPP, 2020, 35(6): 490-492.
[12]	QIU Lu-yao，AN Yun-fei，ZHAO Xiao-dong. Interpretation of human inborn errors of immunity:2019 update on the classification from the International Union of Immunological Societies Expert Committee [J]. CJPP, 2020, 35(4): 278-283.
[13]	LIU Yang，HU Jian. Research progress in NEMO syndrome [J]. CJPP, 2019, 34(11): 949-953.
[14]	ZHANG Zhi-yong，ZHAO Xiao-don. Pediatric fever， aphthous stomatitis， pharyngitis and adenitis [J]. CJPP, 2018, 33(1): 14-17.
[15]	HE Ting-yan，YANG Jun. Aicardi-Goutières syndrome [J]. CJPP, 2018, 33(1): 29-33.

One case of rare immunodeficiency with centromeric instability and facial anomalies syndrome type I and literature review

罕见免疫缺陷着丝粒不稳定和面部异常综合征1型1例并文献复习

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

One case of rare immunodeficiency with centromeric instability and facial anomalies syndrome type I and literature review

罕见免疫缺陷 着丝粒不稳定和面部异常综合征1型1例并文献复习

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

罕见免疫缺陷着丝粒不稳定和面部异常综合征1型1例并文献复习