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AllergicandImmunologicDiseases
APracticalGuidetotheEvaluation,DiagnosisandManagement ofAllergicandImmunologicDiseases
Allergicand ImmunologicDiseases
APracticalGuidetotheEvaluation, DiagnosisandManagementofAllergicand ImmunologicDiseases
Editedby ChristopherChang
DivisionofPediatricImmunology,AllergyandRheumatology, JoeDiMaggioChildren‘sHospital,MemorialHealthcareSystem, Hollywood,FL,UnitedStates;DivisionofRheumatology,Allergyand ClinicalImmunology,UniversityofCaliforniaDavisSchoolofMedicine, Davis,CA,UnitedStates
AcademicPressisanimprintofElsevier 125LondonWall,LondonEC2Y5AS,UnitedKingdom 525BStreet,Suite1650,SanDiego,CA92101,UnitedStates 50HampshireStreet,5thFloor,Cambridge,MA02139,UnitedStates TheBoulevard,LangfordLane,Kidlington,OxfordOX51GB,UnitedKingdom
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Dedication
DedicatedtoLaura,Francesca,Santiago,Michael, Jenniferandthememoryofmyfather,whopassedaway duringtheCOVID-19pandemic
Section4:Basophilactivationtest
7. Developmentsandemergingtechnologiesinallergic andimmunologicdiseasemanagement
NickiY.H.Leung,ChristineY.Y.Wai,TihongShao, KaHouChuandPatrickS.C.Leung
Section1:Diagnosisofallergicdiseases
Section2:Latestdevelopmentofallergen-specificimmunotherapy
Section3:Omicsinthemanagementofallergicdiseases
Section4:Artificialintelligencein themanagementofallergicdiseases 204 AIinasthmaresearch204 AIinfoodallergyresearch205
SatishkumarRanganathanGanakammal,KeHuang,Magdalena WalkiewiczandSandhyaXirasagar
SectionB
Diagnosisofallergicdiseases
RoxanneC.OrielandScottH.Sicherer
Urticarialdermatitis556
Papularurticaria557
Otherurticarialreactions557
Autoinflammatorysyndromes 557
ADAM17deficiency558
Aicardi-Goutie ` ressyndrome558
AP1S3andautoinflammatorypsoriasis558
AutoimmunityandPLCγ2-associatedantibodydeficiencyand immunedysregulation558
Autoinflammatoryperiodicfever,immunodeficiency,and thrombocytopenia558
Behc¸etsyndrome559
Blausyndrome559
CANDLEsyndrome559
CARD14-mediatedpsoriasis559
Cryopyrin-associatedperiodicsyndromes560
Deficiencyofadenosinedeaminase2560
Deficiencyofinterleukin-1receptorantagonist560
Familialchilblainlupus560
FamilialMediterraneanfever561
Hsyndrome561
Majeedsyndrome561
NLRP1-associateddisease561
NLRP12-associatedautoinflammatorydisease561
Pyogenicsterilearthritis,pyodermagangrenosum,acne561
PLCγ2-associatedantibodydeficiencyandimmune dysregulation562
Singleton Mertonsyndrome562
Schnitzlersyndrome562
Spondyloenchondrodysplasiawithimmunedysregulation562
STING-associatedvasculopathywithonsetininfancy562
Synovitis,arthritis,pustulosis,hyperostosis,osteitis563
Tumornecrosisfactorreceptor associatedperiodicsyndrome563
Immunodeficiencysyndromes 563
Ataxia-telangiectasia563
Che ´ diak Higashisyndrome563
Chronicgranulomatousdisease(Bridges Goodsyndrome, Quiesyndrome)564
Combinedimmunodeficiency564
Commonvariableimmunodeficiency564
DiGeorgesyndrome(22q11.2deletion)564
Griscellisyndrome565
Goodsyndrome565
Hemophagocyticlymphohistiocytosis565
Hereditaryangioedema565
Hyper-IgEsyndrome565
ImmunodysregulationpolyendocrinopathyenteropathyX-linked syndrome566
Leukocyteadhesiondeficiency566
Nethertonsyndrome566
Nijmegenbreakagesyndrome566
Severecombinedimmunodeficiency566
Wiskott Aldrichsyndrome567
X-linkedagammaglobulinemia(Brutondisease)567
Otherinflammatorydisordersoftheskin 567
Autoimmunediseases567
Granulomatousdermatitis568
Immunobullousdisorders568
Morbilliformeruptions569
YoungHwanParkandJonathanJ.Lyons
Mastcellactivationandmediatorrelease 584
IgE FcεRIsignaling584
Mas-relatedGprotein coupledreceptor-X2585
SCF KIT(CD117)signaling585
IL-33 ST2signaling586
IL-6 IL-6R/GP130signaling586
Mastcellmediators587
Definingmastcell associateddisorders 589
Clonaldisordersofmastcells589
Nonclonaldisordersassociatedwithmastcellactivation593
Geneticdisordersinvolvingmastcells 596
Hereditaryalpha-tryptasemia596
PLCG2-associatedantibodydeficiencyandimmunedysregulation598
AdhesionGprotein coupledreceptorE2gain-of-function599
Clinicaltestingmodalities 600
Testingofmastcellmediatorsinbloodandurine600
Tryptasegenotyping605
KIT p.D816Vvariantdetectionbyallele-specificandddPCR607
Next-generationsequencingpanels607
Bonemarrowandtissuebiopsy608
Clinicalevaluationformastcell associateddisorders 608
Evaluationofpatientswithsuspectedmastcell associateddisorders608
Conclusion 612
Classificationanddifferentialdiagnosisofrecurrentangioedema intheabsenceofwheals632
Historyandphysicalexaminationofrecurrentangioedema intheabsenceofwheals632 Workupofrecurrentangioedemaintheabsenceofwheals634
23. Evaluatingpatientswitheosinophiliaandeosinophilic
Interferon-gammaandinterleukin-12/23pathway730
κBpathway732
28. Infectionsinprimaryimmunodeficiency
AhnikaKlineandChristaZerbe
Immunodeficienciesaffectingcellularandhumoralimmunity
Combinedimmunedeficiencieslessprofoundthanseverecombined immunedeficiency752
Combinedimmunodeficiencieswithsyndromicfeatures
Wiskott-Aldrichsyndromeandrelateddeficiencies756
AngelA.HerreraGuerraandVictoriaR.Dimitriades
30. Primaryimmuneregulatorydisorders 829
MariaChitty-LopezandJolanE.Walter
31. Thehistory,diagnosis,andpathophysiologyof
KellyValentini,EricMcGrath,DivyaSethandElizabethSecord
32. Theevaluationandtreatmentofautoimmunediseases 863
KristinaWiers-Shamir,JessicaSimpsonandChristopherChang
YhojanRodrı´guez,LucasRestrepo,ChristopherChangand Juan-ManuelAnaya
