PMID- 34406419
OWN - NLM
STAT- MEDLINE
DCOM- 20211222
LR  - 20211222
IS  - 1432-1211 (Electronic)
IS  - 0093-7711 (Linking)
VI  - 73
IP  - 6
DP  - 2021 Dec
TI  - Compound heterozygous DCLRE1C mutations lead to clinically typical Severe 
      Combined Immunodeficiency presenting with Graft Versus Host Disease.
PG  - 425-434
LID - 10.1007/s00251-021-01219-4 [doi]
AB  - Artemis (DCLRE1C) is involved in opening recombination-activating gene 
      (RAG1/RAG2)-generated hairpins during V(D)J recombination, an essential process 
      for the differentiation and maturation of T and B cells. Here, we reported a case 
      of 5-month-old boy with recurrent respiratory infections, disseminated Bacille 
      Calmette-Guerin (BCG) infection, generalized erythroderma, hepatosplenomegaly, 
      lymphadenopathy, eosinophillia and failure to thrive, symptoms often observed in 
      Omenn syndrome. Genetic analysis revealed compound heterozygous mutations of the 
      DCLRE1C gene, including deletions of exons 1 and 2, and a c. 352G>T (p. G118X) 
      nonsense mutation in exon 5. Flow cytometry analysis of the patient PBMCs 
      indicated a T(low)B(-)NK(+) immunophenotype. Short tandem repeat (STR) analysis 
      confirmed transplacental maternal lymphocytes engraftment in circulating blood of 
      the patient. Collectively, we reported a patient showing atypical 
      immunophenotypic and typical clinical presentations of Severe Combined 
      Immunodeficiency (SCID) with Graft Versus Host Disease (GVHD) in the context of 
      compound heterozygous mutations of the DCLRE1C gene. This study adds to the 
      ever-growing knowledge on the broad immunological and clinical spectrum 
      associated with DCLRE1C mutations.
CI  - (c) 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, 
      part of Springer Nature.
FAU - Mou, Wenjun
AU  - Mou W
AD  - Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing 
      Children's Hospital, Capital Medical University, National Center for Children's 
      Health, Beijing, 100045, China.
FAU - Gao, Liwei
AU  - Gao L
AD  - Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical 
      University, National Center for Children's Health, Beijing, 100045, China.
AD  - China National Clinical Research Center for Respiratory Diseases, Beijing, 
      100045, China.
FAU - He, Jianxin
AU  - He J
AD  - Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical 
      University, National Center for Children's Health, Beijing, 100045, China.
AD  - China National Clinical Research Center for Respiratory Diseases, Beijing, 
      100045, China.
FAU - Yin, Ju
AU  - Yin J
AD  - Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical 
      University, National Center for Children's Health, Beijing, 100045, China.
AD  - China National Clinical Research Center for Respiratory Diseases, Beijing, 
      100045, China.
FAU - Xu, Baoping
AU  - Xu B
AD  - Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical 
      University, National Center for Children's Health, Beijing, 100045, China. 
      xubaopingbch@163.com.
AD  - China National Clinical Research Center for Respiratory Diseases, Beijing, 
      100045, China. xubaopingbch@163.com.
FAU - Gui, Jingang
AU  - Gui J
AD  - Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing 
      Children's Hospital, Capital Medical University, National Center for Children's 
      Health, Beijing, 100045, China. guijingang@bch.com.cn.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210818
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (Codon, Nonsense)
RN  - 0 (DNA-Binding Proteins)
RN  - EC 3.1.- (DCLRE1C protein, human)
RN  - EC 3.1.- (Endonucleases)
SB  - IM
MH  - Codon, Nonsense
MH  - DNA-Binding Proteins/*genetics/*immunology
MH  - Endonucleases/*genetics/*immunology
MH  - Exons
MH  - Genetic Predisposition to Disease
MH  - Graft vs Host Disease/*genetics/*immunology
MH  - Heterozygote
MH  - Humans
MH  - Infant
MH  - Lymphocytes/immunology
MH  - Male
MH  - Mutation
MH  - Severe Combined Immunodeficiency/*genetics/*immunology
MH  - V(D)J Recombination
OTO - NOTNLM
OT  - Compound Heterozygous Mutations
OT  - DCLRE1C Gene
OT  - Graft Versus Host Disease
OT  - Severe Combined Immunodeficiency
OT  - Transplacental Maternal Lymphocytes Engraftment
EDAT- 2021/08/19 06:00
MHDA- 2021/12/24 06:00
CRDT- 2021/08/18 12:29
PHST- 2021/03/20 00:00 [received]
PHST- 2021/05/11 00:00 [accepted]
PHST- 2021/08/19 06:00 [pubmed]
PHST- 2021/12/24 06:00 [medline]
PHST- 2021/08/18 12:29 [entrez]
AID - 10.1007/s00251-021-01219-4 [pii]
AID - 10.1007/s00251-021-01219-4 [doi]
PST - ppublish
SO  - Immunogenetics. 2021 Dec;73(6):425-434. doi: 10.1007/s00251-021-01219-4. Epub 
      2021 Aug 18.