PMID- 32962823
OWN - NLM
STAT- MEDLINE
DCOM- 20211104
LR  - 20211104
IS  - 1878-3279 (Electronic)
IS  - 0171-2985 (Linking)
VI  - 225
IP  - 5
DP  - 2020 Sep
TI  - B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old 
      female infant with mosaic monosomy 7.
PG  - 152005
LID - S0171-2985(20)30061-9 [pii]
LID - 10.1016/j.imbio.2020.152005 [doi]
AB  - Monosomy 7 is generally considered as an acquired cytogenetic abnormality within 
      hematopoietic cells, and indicates an especially high risk of progression to bone 
      marrow failure, myelodysplastic syndrome (MDS) or juvenile myelomonocytic 
      leukemia (JMML). We report a case of a 6-month-old female infant with mosaic 
      monosomy 7 who presented with clinical and laboratory evidences of 
      immunodeficiency. The patient had suffered from recurrent respiratory infections 
      since she was born. Peripheral blood lymphocyte subsets revealed an extremely low 
      level of CD19(+) B lymphocytes (0.3 approximately 0.8%, normal range: 6.4 approximately 22.6%) and a 
      decreased CD4/CD8 ratio (0.67 approximately 1.12, normal range: 1.4 approximately 2.0). Decreased serum 
      levels of IgG (1.53 g/L, normal range: 4.09 approximately 7.03 g/L), IgA (0.10 g/L, normal 
      range: 0.21 approximately 0.47 g/L) and IgM (0.26 g/L, normal range: 0.33 approximately 0.73 g/L) were 
      detected, while complements were normal. Excepting transient neutropenia, routine 
      blood tests were within normal limits. Clinical exome sequencing identified a de 
      novo mosaic monosomy 7, while no pathogenic mutation associated with 
      immunodeficiency was detected. However, peripheral blood cytogenetic analysis was 
      failure to detect monosomy 7 due to the very few cell mitosis. Subsequent 
      fluorescence in situ hybridization (FISH) identified a mosaic monosomy 7 in 58 
      cells within a total number of 100 cells, which was consistent with clinical 
      exome sequencing. Therefore, the patient was diagnosed with primary 
      immunodeficiency disease (PID) due to mosaic monosomy 7. Intravenous treatment 
      with multiple antibiotic agents and infusion of gamma globulin could control the 
      patient's respiratory infections effectively. A better understanding of PIDs will 
      enable effective treatments and prevention of infections in these patients.
CI  - Copyright (c) 2020 Elsevier GmbH. All rights reserved.
FAU - Mai, Kailin
AU  - Mai K
AD  - Department of Pediatrics, The First Affiliated Hospital of Guangzhou Medical 
      University, Guangzhou, China.
FAU - Chen, Xiaowen
AU  - Chen X
AD  - Department of Pediatrics, The First Affiliated Hospital of Guangzhou Medical 
      University, Guangzhou, China.
FAU - Wang, Chunli
AU  - Wang C
AD  - AmCare Genomics Lab (V.W.Z.), Guangzhou, China.
FAU - Wu, Shangzhi
AU  - Wu S
AD  - Department of Pediatrics, The First Affiliated Hospital of Guangzhou Medical 
      University, Guangzhou, China.
FAU - Yang, Liying
AU  - Yang L
AD  - Department of Pediatrics, The First Affiliated Hospital of Guangzhou Medical 
      University, Guangzhou, China.
FAU - Huang, Zhanhang
AU  - Huang Z
AD  - Department of Pediatrics, The First Affiliated Hospital of Guangzhou Medical 
      University, Guangzhou, China.
FAU - Zhang, Guanglin
AU  - Zhang G
AD  - AmCare Genomics Lab (V.W.Z.), Guangzhou, China.
FAU - Zhang, Victor Wei
AU  - Zhang VW
AD  - Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, 
      USA.
FAU - Wang, Jing
AU  - Wang J
AD  - AmCare Genomics Lab (V.W.Z.), Guangzhou, China.
FAU - Chen, Dehui
AU  - Chen D
AD  - Department of Pediatrics, The First Affiliated Hospital of Guangzhou Medical 
      University, Guangzhou, China. Electronic address: cdh84@126.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200812
PL  - Netherlands
TA  - Immunobiology
JT  - Immunobiology
JID - 8002742
RN  - 0 (Anti-Bacterial Agents)
RN  - 0 (Immunoglobulins)
RN  - 0 (Immunoglobulins, Intravenous)
RN  - Chromosome 7, monosomy
SB  - IM
MH  - Anti-Bacterial Agents/therapeutic use
MH  - B-Lymphocytes/*immunology
MH  - CD4-CD8 Ratio
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/immunology
MH  - Female
MH  - Humans
MH  - Immunoglobulins/blood
MH  - Immunoglobulins, Intravenous/therapeutic use
MH  - Infant
MH  - Primary Immunodeficiency Diseases/blood/*diagnosis/drug therapy/immunology
MH  - Respiratory Tract Infections/blood/drug therapy/*immunology
OTO - NOTNLM
OT  - B-lymphocyte deficiency
OT  - monosomy 7
OT  - primary immunodeficiency
OT  - respiratory infections
EDAT- 2020/09/24 06:00
MHDA- 2021/11/05 06:00
CRDT- 2020/09/23 06:03
PHST- 2020/02/12 00:00 [received]
PHST- 2020/05/24 00:00 [revised]
PHST- 2020/08/11 00:00 [accepted]
PHST- 2020/09/23 06:03 [entrez]
PHST- 2020/09/24 06:00 [pubmed]
PHST- 2021/11/05 06:00 [medline]
AID - S0171-2985(20)30061-9 [pii]
AID - 10.1016/j.imbio.2020.152005 [doi]
PST - ppublish
SO  - Immunobiology. 2020 Sep;225(5):152005. doi: 10.1016/j.imbio.2020.152005. Epub 
      2020 Aug 12.