Stiehm's Immune Deficiencies PDF
Preview Stiehm's Immune Deficiencies
Stiehm’s Immune Deficiencies Thispageintentionallyleftblank Stiehm’s Immune Deficiencies Edited by Kathleen E. Sullivan E. Richard Stiehm Associate Editors Luigi D. Notarangelo Steven M. Holland Charlotte Cunningham-Rundles Alain Fischer AMSTERDAM(cid:129)BOSTON(cid:129)HEIDELBERG(cid:129)LONDON(cid:129)NEWYORK(cid:129)OXFORD(cid:129)PARIS SANDIEGO(cid:129)SANFRANCISCO(cid:129)SINGAPORE(cid:129)SYDNEY(cid:129)TOKYO AcademicPressisanimprintofElsevier AcademicPressisanimprintofElsevier 32JamestownRoad,LondonNW17BY,UK 525BStreet,Suite1800,SanDiego,CA92101-4495,USA 225WymanStreet,Waltham,MA02451,USA TheBoulevard,LangfordLane,Kidlington,OxfordOX51GB,UK Copyrightr2014ElsevierInc.Allrightsreserved,exceptforChapters5,9,25,35,50and51whichare inthepublicdomain. Nopartofthispublicationmaybereproducedortransmittedinanyformorbyanymeans,electronic ormechanical,includingphotocopying,recording,oranyinformationstorageandretrievalsystem, withoutpermissioninwritingfromthepublisher.Detailsonhowtoseekpermission,further informationaboutthePublisher’spermissionspoliciesandourarrangementswithorganizations suchastheCopyrightClearanceCenterandtheCopyrightLicensingAgency,canbefoundatour website:www.elsevier.com/permissions. ThisbookandtheindividualcontributionscontainedinitareprotectedundercopyrightbythePublisher (otherthanasmaybenotedherein). Notices Knowledgeandbestpracticeinthisfieldareconstantlychanging.Asnewresearchandexperience broadenourunderstanding,changesinresearchmethods,professionalpractices,ormedicaltreatmentmay becomenecessary. Practitionersandresearchersmustalwaysrelyontheirownexperienceandknowledgeinevaluatingand usinganyinformation,methods,compounds,orexperimentsdescribedherein.Inusingsuchinformation ormethodstheyshouldbemindfuloftheirownsafetyandthesafetyofothers,includingpartiesfor whomtheyhaveaprofessionalresponsibility. Tothefullestextentofthelaw,neitherthePublishernortheauthors,contributors,oreditors,assumeany liabilityforanyinjuryand/ordamagetopersonsorpropertyasamatterofproductsliability,negligence orotherwise,orfromanyuseoroperationofanymethods,products,instructions,orideascontainedin thematerialherein. BritishLibraryCataloguing-in-PublicationData AcataloguerecordforthisbookisavailablefromtheBritishLibrary LibraryofCongressCataloging-in-PublicationData AcatalogrecordforthisbookisavailablefromtheLibraryofCongress ISBN:978-0-12-405546-9 ForinformationonallAcademicPresspublications visitourwebsiteathttp://store.elsevier.com/ PrintedandboundintheUnitedStatesofAmerica Contents Preface xv EvaluatingSuspectedToll-Like Acknowledgments xvii Receptor(TLR)Signaling ListofContributors xix Disorders 71 Summary 71 References 71 Part 1 3. Genetics of Primary Immune General Considerations Deficiencies 1. Common Presentations and TroyTorgersonandHansOchs Diagnostic Approaches Introduction 73 NimaRezaei,EstherdeVries,EleonoraGambineri, FormsofInheritance 74 andElieHaddad BasicPrinciplesofGeneticTesting 76 DNASequencing 78 PrevalenceandDemographics 3 Nomenclature 80 RecurrentInfections 11 References 81 SentinelInfections 13 CutaneousInfections 25 ChronicDiarrhea 27 Part 2 ShortStaturewithInfections 29 Primary Immune Deficiencies Malignancies 37 Neutropenia 40 Section A: TCell Defects References 42 4. Severe Combined Immunodeficiencies AnnaVilla,DespinaMoshous,Jean-Pierre 2. Overview of Laboratory Studies for deVillartay,LuigiD.Notarangelo,and Evaluating Primary Immune Deficiency FabioCandotti Disorders Introduction 88 SergioD.RosenzweigandThomasA.Fleisher SpecificSevereCombinedImmunodeficiencies 88 AutosomalRecessiveSCIDCausedbyZeta Introduction 61 Chain-AssociatedProtein70(ZAP70) EvaluatingSuspectedDefectsinBCell/ Defect 105 AntibodyResponses 61 NewbornScreeningforSevereCombined EvaluatingSuspectedTCellDefects 63 Immunodeficiency 124 EvaluatingSuspectedNaturalKiller(NK) Conclusions 125 andNKTCellDefects 67 References 126 EvaluatingImmuneDefectsInvolvingthe Adaptive(cid:1)InnateImmuneInterface IL-12/23(cid:1)IFN-γPathway 67 5. Combined Immune Deficiencies EvaluatingSuspectedComplement HelenC.SuandMichaelJ.Lenardo Disorders 68 EvaluatingSuspectedPhagocyticCell OverviewofCommonClinicalFeatures 144 Disorders 69 OverviewofPathophysiology 144 v vi Contents SpecificCombinedImmunodeficiencies 148 ManagementofICLandSecondary Acknowledgments 166 Complications 247 References 166 Prognosis 248 References 248 6. Well-Known Combined Immune Section B: Complex Phenotypes Deficiency Syndromes 10. Hyper IgE Syndrome (STAT3 Defect) JohnB.ZieglerandSaraKashef JenniferM.PuckandStevenM.Holland Introduction 172 Wiskott-AldrichSyndrome 172 Introduction 253 WIPDeficiency 179 HistoryofAutosomalDominantHyperIgE Cartilage-HairHypoplasia 180 Syndrome(AD-HIES) 253 Schimke’sImmuno-OsseousDysplasia 185 ClinicalFeaturesofAD-HIES 254 HepaticVeno-OcclusiveDiseasewith ImmunologicalLaboratoryFindings ImmuneDeficiency 189 inAD-HIES 257 Acknowledgments 194 ClinicalandDifferentialDiagnosisof References 194 AD-HIES 258 EtiologyofAD-HIES 260 ImmunologyandPathogenesisofAD-HIES 260 7. DNA Repair Defects TreatmentofAD-HIES 261 OscarPorras Acknowledgments 263 References 263 Introduction 199 Ataxia-Telangiectasia 200 11. Dyskeratosis Congenita Ataxia-Telangiectasia-LikeDisorder 207 BloomSyndrome 209 InderjeetDokal NijmegenBreakageSyndrome 210 RIDDLESyndrome 213 DefinitionandOverviewofClinicalFeatures 267 References 214 GeneticsandDifferentSubtypesofDC 269 HematologicalInvolvementinDC 275 ImmuneDeficiencyinDC 276 8. Defects in Thymic Development: TelomereLengthandPathophysiology DiGeorge/CHARGE/Chromosome ofDC 276 22q11.2 Deletion GeneralAspectsofDiagnosisand ManagementofDC 276 M.LouiseMarkert TherapyofHematologicalandImmunological OverviewofCommonClinicalFeatures 222 ComplicationsofDC 278 OverviewofPathophysiology 222 Acknowledgments 279 DiagnosisofPartialandCompleteDiGeorge References 279 Anomaly 226 ManagementofDiGeorgeAnomaly 234 12. Genetic Syndromes with Evidence of Summary 236 Immune Deficiency Acknowledgments 238 References 238 JeffreyE.MingandJohnM.GrahamJr SyndromicImmuneDeficiencies 283 9. Idiopathic CD4 Lymphopenia SyndromesAssociatedwithGrowth Deficiency 283 AlexandraF.FreemanandIriniSereti SyndromesAssociatedwithGastrointestinal Introduction 243 Dysfunction 289 Genetics 243 SyndromesAssociatedwithCutaneous Pathogenesis 244 Abnormalities 291 ClinicalPresentation 245 SyndromesAssociatedwithNeurologic Diagnostics 246 Dysfunction 295 Contents vii SyndromesAssociatedwithHematologic SpecificImmunoglobulinClass-Switch Dysfunction 298 RecombinationDefects 370 InbornErrorsofMetabolismAssociated ConcludingRemarks 383 withImmuneDeficiency 301 References 383 MiscellaneousGeneticSyndromes AssociatedwithImmuneDeficiency 304 16. Isotype Defects Well-RecognizedSyndromeswithImmune DeficiencyasanOccasionalFeature 306 MirjamvanderBurg,CorryM.R.Weemaes, andCharlotteCunningham-Rundles SyndromeswithChromosomeInstability and/orDefectiveDNARepairAssociated ImmunoglobulinStructureandFunction 389 withImmuneDeficiency 307 IsotypeDefects 392 SyndromesAssociatedwith References 403 ChromosomalAbnormalitiesof NumberorStructure 309 17. Specific Antibody Deficiency with Conclusions 311 Normal Immunoglobulins References 312 RicardoU.SorensenandLilyE.Leiva Section C: Significant Antibody DefinitionofSpecificAntibodyDeficiency 409 Deficiencies ClinicalManifestations 410 AssessmentofSpecificAntibodies 410 13. Agammaglobulinemia DiagnosticCriteria 412 SADPhenotypes 413 AlessandroPlebaniandVassiliosLougaris ManagementofSAD 414 X-LinkedAgammaglobulinemia 329 Prognosis 415 AutosomalRecessiveAgammaglobulinemia 337 References 415 Acknowledgments 342 References 342 18. Transient Hypogammaglobulinemia of Infancy 14. Hypogammaglobulinemia and StephenJ.McGeady Common Variable Immunodeficiency Definition 417 CharlotteCunningham-Rundlesand Genetics 419 KlausWarnatz Pathogenesis 420 Definition 347 ClinicalPresentation 422 DiagnosticCriteria 347 DiagnosisofTHI 422 ClinicalPresentation 348 Management 423 DiagnosticWork-UpatPresentation 349 ManagementofSecondaryComplications 424 Pathogenesis 350 Prognosis 424 GeneralManagement 354 Summary 425 ComplicationsandSpecificManagement 355 References 425 NaturalHistoryandOutcome 360 References 361 19. Centromeric Instability in ICF Syndrome 15. Class-Switch Recombination Defects CorryM.R.WeemaesandSilve`reM.vander Maarel AnneDurandyandSvenKracker Definition 427 CommonClinicalFeaturesof Genetics 427 ImmunoglobulinClass-Switch ClinicalPresentation 428 RecombinationDefects 368 Diagnostics 431 PathophysiologyofImmunoglobulin ManagementandPrognosis 432 Class-SwitchRecombinationDefects 368 References 432 viii Contents Section D: Immune Dysregulation 24. Classic Autoinflammatory Diseases Syndromes AdrianaA.deJesus,PollyJ.Ferguson, 20. Genetic Diseases Predisposing to HLH andRaphaelaGoldbach-Mansky OverviewofCommonClinicalFeaturesin StephanEhlandGenevie`vedeSaintBasile MonogenicAutoinflammatorySyndromes 518 Definition 437 OverviewofPathophysiologyin GeneticsofHLH 438 AutoinflammatorySyndromes 518 UnderstandingthePathogenesisofHLH 441 CryopyrinAssociatedPeriodic ClinicalPresentation 443 SyndromesCausedbyMutationsin Diagnosis 448 CIAS1/NLRP3 519 Management 452 TheThreeHereditaryRecurrentFever Prognosis 453 Syndromes 527 Perspectives 454 PyogenicArthritis,PyodermaGangrenosum References 454 andAcneSyndromeCausedbyMutations inPSTPIP1 539 21. Autoimmune Lymphoproliferative References 541 Syndromes Joa˜oBoscoOliveira 25. Autoinflammatory Diseases Predominantly Affecting Bone and CellDeathandtheImmuneSystem 461 AutoimmuneLymphoproliferativeSyndrome 462 Joints Alps-RelatedDisorders 469 PollyJ.FergusonandRaphaelaGoldbach-Mansky Conclusions 472 References 472 Introduction 551 ChronicRecurrentMultifocal Osteomyelitis(CRMO)andSynovitis, 22. The X-Linked Lymphoproliferative Acne,Pustulosis,Hyperostosis(SAPHO) Syndromes Syndrome 552 KimE.NicholsandRebeccaA.Marsh DeficiencyoftheInterleukin-1Receptor Antagonist 556 Introduction/Definition 475 MajeedSyndrome 558 Genetics 476 BlauSyndrome 560 Pathogenesis 477 ProteasomeAssociatedAutoinflammatory ClinicalPresentation 482 Syndromes(PRAAS)CausedbyMutations Diagnostics 485 inPSMB8 563 Management 488 References 566 Prognosis 490 ClosingRemarks 491 References 491 26. Autoinflammatory Diseases Predominantly Affecting the 23. Immune Dysregulation Leading to Gastrointestinal Tract Chronic Autoimmunity Erik-OliverGlockerandCarstenSpeckmann JamesW.VerbskyandTalalA.Chatila Introduction 573 AutoimmunePolyendocrinopathy(cid:1) ADAM17Deficiency;InflammatorySkin Candidiasis(cid:1)EctodermalDystrophy 497 andBowelDisease,Neonatal 574 IPEX 501 Treatment 575 CD25Deficiency 505 ITCH/AIP4Deficiency 576 STAT5bDeficiency 507 IL-10ReceptorDeficiency/IL-10Deficiency 577 IPEX-LikeDiseaseDuetoSTAT1Mutations 509 MutationsinNOD2 580 ITCH 510 Summary 582 References 511 References 582 Contents ix 27. Autoinflammatory Diseases Affecting NeutrophilActinDysfunction-Associated Predominantly the Skin Syndromes 627 Papillon-LefevreSyndrome 629 JoshuaD.Milner NeutrophilDefectAssociatedWith MutationsinVPS45 630 PLCG2AssociatedAntibodyDeficiencyand References 630 ImmuneDysregulation 585 AutoinflammatoryPLCG2Associated AntibodyDeficiencyandImmune 31. Chronic Granulomatous Disease Dysregulation 587 IL-36RADeficiency 588 JenniferW.LeidingandStevenM.Holland Acknowledgments 589 Introduction 633 References 589 Pathogenesis 633 ClinicalFeatures 635 28. Mendelian Disorders of Immunity LaboratoryFeatures 640 Related to an Upregulation of Type I Diagnosis 641 Interferon Treatment 642 Prognosis 643 YanickJ.Crow References 644 Introduction 591 Aicardi-Goutie`resSyndrome 592 32. Macrophage Defects ADAR1-AssociatedBilateralStriatalNecrosis 597 C1qDeficiency 599 SergioD.RosenzweigandStevenM.Holland ChronicAtypicalNeutrophilicDermatosis Introduction 649 WithLipodystrophyandElevated TheInterferon-γReceptorPathway:IFN-γR1, Temperature 599 IFN-γR2,andSTAT1Deficiencies 651 References 600 Interleukin12andInterleukin12Receptor: IL-12p40andIL-12Rβ1Deficiencies 654 Section E: Innate Immune Defects IRF8Deficiency 656 ISG15Deficiency 656 29. Congenital Neutropenia GATA2Deficiency 657 ChristophKlein NEMODeficiency 658 DiagnosisandTreatmentofPatientswith Introduction 605 SuspectedIFN-γ/IL-12/IL-23Pathway ClinicalPresentation 605 Abnormalities 659 DifferentialDiagnosisandLaboratory Conclusions 660 Work-Up 606 References 661 TherapyandOutcome 608 GeneticDefectsinCongenitalNeutropenia 609 Summary 614 33. Human Immunodeficiencies Resulting Acknowledgments 615 κ From Defective NF- B Activation References 615 DouglasR.McDonaldandRaifS.Geha 30. Neutrophil Migration Defects OverviewofNf-κBTranscriptionFactor RegulationandFunctions 665 SuheirHannaandAmosEtzioni ClinicalFeaturesofPatientswithDefective Introduction 619 ActivationofNF-κB 668 LADI 620 SummaryofPhenotypesResultingfrom LADII 622 NEMOandIκBαMutations 677 LADIII 623 ManagementofPatientsWithImpaired Rac2Deficiency 625 NF-κBActivation 683 Shwachman-DiamondSyndrome 625 References 684
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