PMID- 28429103
OWN - NLM
STAT- MEDLINE
DCOM- 20180215
LR  - 20220408
IS  - 1573-2592 (Electronic)
IS  - 0271-9142 (Linking)
VI  - 37
IP  - 4
DP  - 2017 May
TI  - Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome.
PG  - 375-382
LID - 10.1007/s10875-017-0394-6 [doi]
AB  - PURPOSE: Patients with 22q11.2 deletion syndrome have a variable decrease in 
      immunological parameters, especially regarding T cell counts. The aim of this 
      study was to investigate immunological change over time and factors associated 
      with immunological recovery among patients with 22q11.2 deletion syndrome. 
      METHODS: Patients with 22q11.2 deletion syndrome diagnosed by fluorescence in 
      situ hybridization (FISH) were studied. Immunological parameters were evaluated 
      every 6 months until patients returned to normal. Infection and vaccination 
      histories were recorded and analyzed, and Kaplan-Meier survival curves were 
      plotted to describe resolution of immunodeficiency. RESULTS: Forty-nine patients 
      with an age range of 4 to 222 months were included. Twenty-five (51%) patients 
      were female. In hypocalcemia, the odds ratio for CD4 lymphopenia was 17.03 (95%CI 
      1.82-159.23; p value = 0.01). Thirty patients (61.2%) exhibited decreased CD4+ T 
      cell numbers, which returned to normal level in 18 (60%) patients. Median age of 
      CD4+ T cell resolution was 2.5 years. T cell functions were abnormal in three 
      patients. T cell functions returned to normal in all patients at a median age of 
      1.1 years. Six patients (13.5%) had abnormal serum immunoglobulin levels, with 
      levels improving in four patients at 1.4 years of age. The most common infection 
      was pneumonia (69.4%). BCG vaccination was administered in 47 of 49 patients at 
      birth. Among 32 patients who had T cell defect, one patient developed BCGitis and 
      one developed disseminated BCG. CONCLUSION: Immunodeficiencies identified among 
      patients with 22q11.2 deletion syndrome were T cell defect (65.3%) and decreased 
      immunoglobulin levels (12.2%). Median age of CD4 resolution was 2.5 years.
FAU - Suksawat, Yiwa
AU  - Suksawat Y
AD  - Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine 
      Siriraj Hospital, Mahidol University, Bangkok, Thailand.
FAU - Sathienkijkanchai, Achara
AU  - Sathienkijkanchai A
AD  - Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine 
      Siriraj Hospital, Mahidol University, 2 Prannok Road, Bangkoknoi, Bangkok, 10700, 
      Thailand.
FAU - Veskitkul, Jittima
AU  - Veskitkul J
AD  - Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine 
      Siriraj Hospital, Mahidol University, Bangkok, Thailand.
FAU - Jirapongsananuruk, Orathai
AU  - Jirapongsananuruk O
AD  - Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine 
      Siriraj Hospital, Mahidol University, Bangkok, Thailand.
FAU - Visitsunthorn, Nualanong
AU  - Visitsunthorn N
AD  - Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine 
      Siriraj Hospital, Mahidol University, Bangkok, Thailand.
FAU - Vichyanond, Pakit
AU  - Vichyanond P
AD  - Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine 
      Siriraj Hospital, Mahidol University, Bangkok, Thailand.
FAU - Pacharn, Punchama
AU  - Pacharn P
AD  - Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine 
      Siriraj Hospital, Mahidol University, Bangkok, Thailand. punchama@gmail.com.
LA  - eng
PT  - Journal Article
DEP - 20170420
PL  - Netherlands
TA  - J Clin Immunol
JT  - Journal of clinical immunology
JID - 8102137
RN  - 0 (Immunoglobulins)
SB  - IM
MH  - Adolescent
MH  - CD4-Positive T-Lymphocytes/*immunology
MH  - Child
MH  - Child, Preschool
MH  - DiGeorge Syndrome/diagnosis/*immunology/mortality
MH  - Female
MH  - Humans
MH  - Immunoglobulins/*blood
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Mycobacterium bovis/*immunology
MH  - Pneumonia/diagnosis/*immunology
MH  - Survival Analysis
MH  - Vaccination
OTO - NOTNLM
OT  - 22q11.2 deletion syndrome
OT  - T cell
OT  - age of resolution
OT  - immunodeficiency
OT  - immunoglobulin
EDAT- 2017/04/22 06:00
MHDA- 2018/02/16 06:00
CRDT- 2017/04/22 06:00
PHST- 2016/08/25 00:00 [received]
PHST- 2017/04/03 00:00 [accepted]
PHST- 2017/04/22 06:00 [pubmed]
PHST- 2018/02/16 06:00 [medline]
PHST- 2017/04/22 06:00 [entrez]
AID - 10.1007/s10875-017-0394-6 [pii]
AID - 10.1007/s10875-017-0394-6 [doi]
PST - ppublish
SO  - J Clin Immunol. 2017 May;37(4):375-382. doi: 10.1007/s10875-017-0394-6. Epub 2017 
      Apr 20.