Delineating the immunological profile of Algerian children with Down syndrome:A case series.
DOI:
https://doi.org/10.62438/tunismed.v103i11.5770Keywords:
Down Syndrome, recurrent infections, lymphocyte phenotype, T-cell lymphopenia, Combined immunodeficiency, serum immunoglobulinsAbstract
Purpose:This study aimed to characterize the immunological profile of Algerian children with Down Syndrome (DS).
Methods: Serum immunoglobulin(Ig) levels were measure dusingnephelometry,and lymphocyte Subpopulations were analyzed by flow cytometry (FACSLyric™,BDBiosciences,US). The Lymphocyte phenotype in DS patients was compared to that of patients with combined
immunodeficiency(CID).
Results:Our cohort included 33 patients with DS(20 males),and 40 patients withCID(24 males). All Patients had aclinical history of recurrent or severe infections, including upper and lower respiratory Tract infections in 25 patients(76%).Serum Ig were measured in 29 patients, with normal levels of
IgG,IgA,and Ig Min 83%,73%,and 80% of patients,respectively. Elevated IgG,IgA,and IgM levels. Were found in14%,17%,and 3% of patients,while reduced levels were see nin3%,10%,and17% of patients, respectively. Lymphocyte phenotype analysis revealed CD4l ymphopenia in 24(73%) patients, CD8 lymphopeniain19(58%) patients,B-cell lymphopenia in16(48%) patients, and reduced
NK cells in 7 (21%) patients. Naïve CD4+and CD8+T cells were analyzed in nine patients, with low Percentages observed in three. Patients with DS exhibited significantly milder CD3 and CD4
Lymphopenia compared to those with CID.
Conclusion: Children with D Stypically present withT-andB-cell lymphopenia,while maintaining
Generally normal Ig levels. T-cell lymphopenia in DSis less pronounced thaninCID,and the increased Susceptibility to infections stems from both immunological and non-immunological factors linked to trisomy 21.
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References
AntonarakisSE,SkotkoBG,RafiiMS,StrydomA,PapeSE,BianchiDW,etal.Downsyndrome.
NatRevDisPrimers.2020Feb6;6(1):9.
MarilynJ.BullM.D.DownSyndrome.RopperAH,editor.NEnglJMed.2020Jun
;382(24):2344–52.
MoyerAJ,GardinerK,ReevesRH.All Creatures Greatand Small: NewApproachesfor
Understanding Down Syndrome Genetics.TrendsGenet.2021May;37(5):444–59.
KongXF,WorleyL,RinchaiD,BondetV,JitheshPV,GouletM,etal.Three Copies of Four
Interfer on Receptor Genes Underlie a MildTypeI InterferonopathyinDownSyndrome. JClin
Immunol.2020Aug;40(6):807–19.
LetourneauA,SantoniFA,BonillaX,SailaniMR,GonzalezD,KindJ,etal.Domainsofgenome-
widegeneexpressiondysregulationinDown’ssyndrome.Nature.2014Apr17;508(7496):345–50.
PelleriMC,CattaniC,VitaleL,AntonarosF,StrippoliP,LocatelliC,etal.IntegratedQuantitative
Transcriptome Maps of Human Trisomy 21 Tissues andCells. FrontGenet.2018Apr24;9:125.
VerstegenRHJ,KustersMAA.Inborn Errors of Adaptive Immunity in Down Syndrome .JClin
Immunol.2020Aug;40(6):791–806.
LaganN,HuggardD,McGraneF,LeahyTR,FranklinO,RocheE,etal.Multi organ in volvement
and management in children with Down syndrome.Act a Paediatrica.2020Jun;109(6):1096–111.
EnglundA,JonssonB,ZanderCS,GustafssonJ,AnnerénG.Changes inmortality and causes of
death in the Swedish Down syndrome population.AmericanJofMedGeneticsPtA.2013 Apr;161(4):642–9.
BittlesAH,BowerC,HussainR,GlassonEJ.The fourages of Down syndrome.The European
Journal of Public Health.2007Feb 13;17(2):221–5.
DaySM,StraussDJ,ShavelleRM,ReynoldsRJ.Mortality and causes ofd eath in persons with
Down syndrome in California.Developmental Medicine& Child Neurology.2007Feb
;47(3):171–6.
O’Leary L, Hughes‐McCormack L,DunnK, Cooper S. Early deathand causes of death of people
with Down syndrome: A systematic review.Research IntellectDisabil.2018Sep;31(5):687–708.
Da RosaUtiyamaSR,NisiharaRM,NassFR,OliveiraNP,FiedlerPT,DeMessias‐ReasonIT.
Auto antibodies in patients with Down Syndrome: Early senescence of the immune system or
precocious markers for immunological diseases?JPaediatrics Child Health.2008Apr;44(4):182–6.
HenryE,WalkerD,WiedmeierSE,ChristensenRD.Hematological abnormalities during the first
week of lifeamong neonates with Down syndrome:Data from a multihospital health care system.
AmericanJ of Med GeneticsPtA.2007Jan;143A(1):42–50.
RamG,ChinenJ.Infections and immunodeficiency in Down syndrome.Clinical and Experimental
Immunology.2011Mar10;164(1):9–16.
TangyeSG,Al-HerzW,BousfihaA,Cunningham-RundlesC,FrancoJL,HollandSM,etal.
Human In born Error sofImmunity:2022Update on the Classification from the International Union
of Immunological Societies Expert Committee.JClinImmunol.2022Oct;42(7):1473–507.
JoshiAY,AbrahamRS,SnyderMR,BoyceTG.Immune evaluation and vaccine responses in
Down syndrome:Evidence of immunodeficiency?Vaccine.2011Jul;29(31):5040–6.
DieudonnéY,Uring-LambertB,JeljeliMM,GiesV,AlembikY,KorganowAS,etal.Immune
Defect in Adults With Down Syndrome :Insights In to a Complex Issue.Front Immunol.2020May
;11:840.
CocchiG,MastrocolaM,Capelli M, BastelliA,Vitali F, CorvagliaL.Immunological patternsin
young children with Down syndrome:is there a temporal trend?Acta Paediatrica.2007
Oct;96(10):1479–82.
YılmazC,DoğanM,BaşarslanF,YılmazN,YucaS,BulanK,etal.Evaluation of Lymphocyte
Subgroups in Children With Down Syndrome.Clin Appl ThrombHemost.2015Sep;21(6):546–9.
MitwalliM,WahbaY,ShaltoutA,GouidaM.Lymphocyte subgroups and recurrent infections in
children with Down syndrome–a prospective case control study.cejoi.2018;43(3):248–54.
deHingh YCM, van der Vossen PW, Gemen EFA, MulderAB, Hop WCJ, BrusF, etal. Intrinsic
abnormalities of lymphocyte counts in children with down syndrome.JPediatr.2005
Dec;147(6):744–7.
ClaudiaM.Merhar,DianaI.Liberatore.Immune compromise in patients with Down syndrome. A
caseseries.Arch Argent Pediat[Internet].2024Jun1[cited2024Sep20];122(3).Available from:
https://www.sap.org.ar/docs/publicaciones/archivosarg/2024/v122n3a11e.pdf
MartinsKR,AlvesFA,SilvaLRD,SilvaLOAD,SegundoGRS.Different immunological patterns
of Down syndrome patients with and without recurrent infections.Jornal de Pediatria.2024
Jul;S0021755724000883.
MartínezE,CastañedaD,JaramilloS,IreguiA,QuiñonezT,RodríguezJA,etal.Alteredimmune
parameters correlate with infection-related hospitalizations in children with Down syndrome.
Human Immunology.2016 Jul;77(7):594–9.
HuggardD,WorrallAP,KirkhamC,McGraneF,MandiraR,CaseyL,etal.Immunescreeningin
children with Down Syndrome.ActaPaediatrica.2022Oct;111(10):2025–8.
StabileA,PesaresiMA, StabileAM,PastoreM, SopoSM, RicciR,etal.Immunodeficiency and
plasma zinc levels in children with Down’s syndrome:along-termfollow-upoforalzinc
supplementation.ClinImmunolImmunopathol.1991Feb;58(2):207–16.
TahiatA,BelbouabR,YagoubiA,HakemS,FerniniF,KeddariM,etal.Flowcytometry-based
diagnostic approach for inborn errorsof immunity:experience from Algeria.FrontImmunol.2024
Jul12;15:1402038.
NespoliL,BurgioGR,UgazioAG,MaccarioR.Immunological features of Down’ssyndrome:a
review.JIntellect DisabilRes.1993Dec;37(Pt6):543–51.
UgazioAG,MaccarioR,NotarangeloLD,BurgioGR.Immunology of Down syndrome: A review.
AmJMedGenet.2005Jun 3;37(S7):204–12.
BroersCJ,Gemke RJ,WeijermanME,KuikD,VanHoogstratenIM,VanFurthAM.Frequency
of lower respiratory tract infections in relation to adaptive immunity in children with Down
syndrome compared to their healthy siblings.Acta Paediatrica.2012Aug;101(8):862–7.
KustersMAA,VerstegenRHJ,GemenEFA,DeVriesE.In trinsic defect of the immune systemin
children with Down syndrome:a review.Clinical and Experimental Immunology.2009Apr
;156(2):189–93.
Szczawińska-PopłonykA,PopłonykN,AwdiK. Down Syndrome in Children: A Primary
Immunodeficiency with Immune Dysregulation.Children.2024Oct17;11(10):1251.
SchochJ,RohrerTR,KaestnerM,Abdul-KhaliqH,GortnerL,SesterU,etal.Quantitative,
Phenotypical, and Functional Characterization of Cellular Immunity in Childrenand Adolescents
With Down Syndrome.The Journal of Infectious Diseases.2017May15;215(10):1619–28.
VerstegenRHJ,DriessenGJ,BartolSJW,VanNoeselCJM,BoonL,VanDerBurgM,etal.
DefectiveB-cellmemory in patients with Down syndrome.Journal of Allergy andClinical Immunology.2014Dec;134(6):1346-1353.e9.
CarsettiRetal.The immune system of children with Down syndrome.Front Pediatr. 2020;8:73.
KustersMAetal.Immunological studies in children with Down syndrome: evidence for defective
memoryTcell generation.JImmunol. 2010;185(11):6621–7.
MusianiP,Valitutti S,CastellinoF,LaroccaLM,MaggianoN,PiantelliM.Intrathymic deficient
expansion of Tcellprecursors in Down syndrome.AmJMedGenet.2005Jun3;37(S7):219–24.
LockitchG,PutermanM,GodolphinW,ShepsS,TingleAJ,QuigleyG.Infection and immunity
in Down syndrome: atrialoflong-termloworaldosesofzinc.JPediatr.1989May;114(5):781–7.
LevinS,NirE,MogilnerBM.T system immune-deficiency in Down’ssyndrome.Pediatrics.1975 Jul;56(1):123–6.
FranceschiC,ChiricoloM,LicastroF,ZannottiM,MasiM,MocchegianiE,etal.Oralzinc
supplementation in Down’ssyndrome: restoration of thymic endocrine activity and of some
immunedefects.JintellectDisabilRes.1988Jun;32(3):169–81.
ElsayedSM,ElsayedGM.Phenotype of apoptoticlymphocytes in children with Down syndrome.
ImmunAgeing.2009Mar6;6:2.
GhezziM,GaranciniN,DeSantisR,GianolioL,ZirpoliS,MandelliA,etal. Recurrent Respiratory Infections in Children with Down Syndrome: AReview. Children.2024Feb 15;11(2):246.
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