Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review
10.3760/cma.j.issn.0578-1310.2019.01.013
- VernacularTitle:免疫缺陷、着丝粒不稳定、面部异常综合征一例并文献复习
- Author:
Sicui HU
1
;
Yibing WANG
;
Qing SUN
;
Xiangrong LIU
;
Lili SUN
;
Guangmei CUI
Author Information
1. 青岛市妇女儿童医院肾脏免疫科 266000
- Keywords:
Immunologic deficiency syndromes;
Chromosomes;
Centromere;
Mutation
- From:
Chinese Journal of Pediatrics
2019;57(1):55-59
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical and genetic features of immunodeficiency,centromeric instability,and facial anomalies (ICF) syndrome with a case report and literature review.Methods The clinical data and genetic test of a girl diagnosed with ICF syndrome in the Department of Nephrology and Immunology in Qingdao Women and Children's Hospital in December 2016 were extracted and analyzed."ICF syndrome" "immunodeficiency,centromeric instability and facial anomalies syndrome" "ICF syndrome and DNMT3B" were used as key words to search Chinese databases and Pubmed for literature until March 2018,and the literature was reviewed.Results A female patient aged 22 months old with ocular hypertelorism and low-set ears was admitted due to recurrent infection over one year.Laboratory tests showed humoral immune deficiency with IgG＜ 1.34 g/L,IgA＜0.060 g/L,and IgM＜0.179 g/L,but normal cellular immunity (total T lymphocyte 0.503,hepler T lymphocyte 0.328,cytotoxic T lymphocyte 0.166,natural killer cell 0.184,total B lymphocyte 0.276).Whole-exome sequencing revealed a de novo heterozygous splice site mutation c.922-2A＞G in intron 8,and a de novo heterozygous missense mutation c.2477G＞A in exon 23 of DNMT3B gene.Chromosome karyotype analysis showed 46,XX,with 64 out of 100 karyotypes showing centromere instability in chromosome 1.Five papers were found which were all in English,with total of 29 patients.Forty-three mutations were reported,including 34 missense,2 deletion,1 insertion,6 splice site mutations.Eleven patients had complex heterozygosis mutations.All patients had centromere instability,humoral immune deficiency and facial dysplasia which were mainly ocular hypertelorism and low-set ears.Most patients had language and motor development delay,and a few were combined with mental retardation.Conclusions ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical triad manifestations.De novo mutation of DNMT3B gene is one of etiologies according to genetic test.
