X-Linked Agammaglobulinemia (2024)

  • BeardenD, CollettM, QuanPL, Costa-CarvalhoBT, SullivanKE. Enteroviruses in X-linked agammaglobulinemia: update on epidemiology and therapy.J Allergy Clin Immunol Pract.2016;4:1059–65. [PubMed: 26883540]

  • BergerM.Subcutaneous immunoglobulin replacement in primary immunodeficiencies.Clin Immunol.2004;112:1–7. [PubMed: 15207776]

  • BerglöfA, TurunenJJ, GissbergO, BestasB, BlombergKE, SmithCI. Agammaglobulinemia: causative mutations and their implications for novel therapies.Expert Rev Clin Immunol.2013;9:1205–21. [PubMed: 24215410]

  • BestasB, MorenoPM, BlombergKE, MohammadDK, SalehAF, SutluT, NordinJZ, GuterstamP, GustafssonMO, KharaziS, PiątosaB, RobertsTC, BehlkeMA, WoodMJ, GaitMJ, LundinKE, El AndaloussiS, MånssonR, BerglöfA, WengelJ, SmithCI. Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model.J Clin Invest.2014;124:4067–81. [PMC free article: PMC4151202] [PubMed: 25105368]

  • BousfihaA, MoundirA, TangyeSG, PicardC, JeddaneL, Al-HerzW, RundlesCC, FrancoJL, HollandSM, KleinC, MorioT, OksenhendlerE, PuelA, PuckJ, SeppänenMRJ, SomechR, SuHC, SullivanKE, TorgersonTR, MeytsI. The 2022 update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.J Clin Immunol.2022;42:1508-20. [PubMed: 36198931]

  • BroidesA, YangW, ConleyME. Genotype/phenotype correlations in X-linked agammaglobulinemia.Clin Immunol.2006;118:195–200. [PubMed: 16297664]

  • ConleyME. B cells in patients with X-linked agammaglobulinemia.J Immunol.1985;134:3070–4. [PubMed: 3920309]

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  • ConleyME, DobbsAK, FarmerDM, KilicS, ParisK, GrigoriadouS, Coustan-SmithE, HowardV, CampanaD. Primary B cell immunodeficiencies: comparisons and contrasts.Annu Rev Immunol.2009;27:199-227. [PubMed: 19302039]

  • ConleyME, DobbsAK, QuintanaAM, BosompemA, WangYD, Coustan-SmithE, SmithAM, PerezEE, MurrayPJ. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.J Exp Med.2012;209:463–70. [PMC free article: PMC3302225] [PubMed: 22351933]

  • ConleyME, FarmerDM, DobbsAK, HowardV, AibaY, ShurtleffSA, KurosakiT. A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.Clin Exp Immunol.2008;152:39–44. [PMC free article: PMC2384053] [PubMed: 18241230]

  • ConleyME, HowardV. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia.J Pediatr.2002;141:566–71. [PubMed: 12378199]

  • CuccheriniB, ChuaK, GillV, WeirS, WrayB, StewartD, NelsonD, FussI, StroberW.Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species.Clin Immunol.2000;97:121–9. [PubMed: 11027452]

  • El-SayedZA, AbramovaI, AldaveJC, Al-HerzW, BezrodnikL, BoukariR, BousfihaAA, CancriniC, Condino-NetoA, DbaiboG, DerfalviB, DoguF, EdgarJDM, EleyB, El-OwaidyRH, Espinosa-PadillaSE, GalalN, HaerynckF, Hanna-WakimR, HossnyE, IkinciogullariA, KamalE, KaneganeH, KechoutN, LauYL, MorioT, MoscheseV, NevesJF, OuederniM, PaganelliR, ParisK, PignataC, PlebaniA, QamarFN, QureshiS, RadhakrishnanN, RezaeiN, RosarioN, RoutesJ, SanchezB, SedivaA, SeppanenMR, SerranoEG, ShcherbinaA, SinghS, SiniahS, SpadaroG, TangM, VinetAM, VolokhaA, SullivanKE. X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.World Allergy Organ J.2019;12:100018. [PMC free article: PMC6439403] [PubMed: 30937141]

  • FerrariS, ZuntiniR, LougarisV, SoresinaA, SourkováV, FioriniM, MartinoS, RossiP, PietrograndeMC, MartireB, SpadaroG, CardinaleF, CossuF, PieraniP, QuintiI, RossiC, PlebaniA. Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia.Genes Immun.2007;8:325–33. [PubMed: 17410177]

  • GaoY, CaiC, WullimannD, NiesslJ, Rivera-BallesterosO, ChenP, LangeJ, CuapioA, BlennowO, HanssonL, MielkeS, NowakP, VesterbackaJ, AkberM, Perez-PottiA, SekineT, MüllerTR, BoulouisC, KammannT, ParrotT, MuvvaJR, SobkowiakM, HealyK, BogdanovicG, MuschiolS, SöderdahlG, ÖsterborgA, HellgrenF, GrifoniA, WeiskopfD, SetteA, LoréK, Sällberg ChenM, LjungmanP, SandbergJK, SmithCIE, BergmanP, LjunggrenHG, AlemanS, BuggertM. Immunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination.Immunity.2022;55:1732-46.e5. [PMC free article: PMC9293955] [PubMed: 35961317]

  • Garcia-Prat M, Batlle-Masó L, Parra-Martínez A, Franco-Jarava C, Martinez-Gallo M, Aguiló-Cucurull A, Perurena-Prieto J, Castells N, Urban B, Dieli-Crimi R, Soler-Palacín P, Colobran R. Role of skewed X-chromosome inactivation in common variable immunodeficiency. J Clin Immunol. 2024;24;44:54. [PubMed: 38265673]

  • GrayDH, VillegasI, LongJ, SantosJ, KeirA, AbeleA, KuoCY, KohnDB. Optimizing integration and expression of transgenic Bruton's tyrosine kinase for CRISPR-Cas9-mediated gene editing of X-linked agammaglobulinemia.CRISPR J.2021;4:191-206. [PMC free article: PMC8336228] [PubMed: 33876953]

  • HedinW, BergmanP, AkhirunessaM, SöderholmS, BuggertM, GranbergT, Gredmark-RussS, SmithCIE, PettkeA, Wahren BorgströmE. Severe tick-borne encephalitis (TBE) in a patient with X-linked agammaglobulinemia; treatment with TBE virus IgG positive plasma, clinical outcome and T cell responses.J Clin Immunol.2024;44:116. [PMC free article: PMC11055791] [PubMed: 38676861]

  • Hernandez-TrujilloV, ZhouC, ScalchunesC, OchsHD, SullivanKE, Cunningham-RundlesC, FuleihanRL, BonillaFA, PetrovicA, RawlingsDJ, de la MorenaMT. A registry study of 240 patients with X-linked agammaglobulinemia living in the USA.J Clin Immunol.2023;43:1468-77. [PMC free article: PMC10354121] [PubMed: 37219739]

  • HowardV, GreeneJM, PahwaS, WinkelsteinJA, BoyleJM, KocakM, ConleyME. The health status and quality of life of adults with X-linked agammaglobulinemia.Clin Immunol.2006;118:201–8. [PubMed: 16377251]

  • JollesS, OrangeJS, GardulfA, SteinMR, ShapiroR, BorteM, BergerM. Current treatment options with immunoglobulin G for the individualization of care in patients with primary immunodeficiency disease.Clin Exp Immunol.2015:179:146-60. [PMC free article: PMC4298393] [PubMed: 25384609]

  • KernsHM, RyuBY, StirlingBV, SatherBD, AstrakhanA, Humblet-BaronS, LiggittD, RawlingsDJ. B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia.Blood.2010;115:2146–55. [PMC free article: PMC2844021] [PubMed: 20093406]

  • KralovicovaJ, HwangG, AsplundAC, ChurbanovA, SmithCIE, VorechovskyI. Compensatory signals associated with the activation of human GC 5' splice sites.Nucleic Acids Res.2011;39:7077–91. [PMC free article: PMC3167603] [PubMed: 21609956]

  • LedermanHM, WinkelsteinJA. X-linked agammaglobulinemia: an analysis of 96 patients.Medicine (Baltimore). 1985;64:145–56. [PubMed: 2581110]

  • López-GranadosE, Pérez de DiegoR, Ferreira CerdánA, Fontán CasariegoG, García RodríguezMC. A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.J.Allergy Clin.Immunol.2005;116:690–7. [PubMed: 16159644]

  • Lopez GranadosE, PorpigliaAS, HoganMB, MatamorosN, KrasovecS, PignataC, SmithCI, HammarstromL, BjorkanderJ, BelohradskyBH, CasariegoGF, Garcia RodriguezMC, ConleyME. Clinical and molecular analysis of patients with defects in micro heavy chain gene.J Clin Invest.2002;110:1029–35. [PMC free article: PMC151150] [PubMed: 12370281]

  • MisbahSA, SpickettGP, RybaPC, HockadayJM, KrollJS, SherwoodC, KurtzJB, MoxonER, ChapelHM. Chronic enteroviral meningoencephalitis in agammaglobulinemia: case report and literature review.J Clin Immunol.1992;12:266–70. [PubMed: 1512300]

  • MohiuddinMS, AbbottJK, HubbardN, TorgersonTR, OchsHD, GelfandEW. Diagnosis and evaluation of primary panhypogammaglobulinemia: a molecular and genetic challenge.J Allergy Clin Immunol.2013;131:1717–8. [PubMed: 23726535]

  • NgYY, BaertMR, Pike-OverzetK, RodijkM, BrugmanMH, SchambachA, BaumC, HendriksRW, van DongenJJ, StaalFJ. Correction of B-cell development in Btk-deficient mice using lentiviral vectorswith codon-optimized human BTK.Leukemia.2010;24:1617–30. [PubMed: 20574453]

  • NonoyamaS, TsukadaS, YamadoriT, MiyawakiT, JinYZ, WatanabeC, MorioT, YataJ, OchsHD. Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia.J Immunol.1998;161:3925–9. [PubMed: 9780159]

  • QuartierP, DebreM, De BlicJ, de SauverzacR, SayeghN, JabadoN, HaddadE, BlancheS, CasanovaJL, SmithCI, Le DeistF, de Saint BasileG, FischerA. Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients.J Pediatr.1999;134:589–96. [PubMed: 10228295]

  • RattanachartnarongN, TongkobpetchS, ChatchateeP, DaengsuwanT, IttiwutC, Suphapeetip*rnK, ShotelersukV. In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides.Arch Immunol Ther Exp (Warsz). 2014;62:431–6. [PubMed: 24658450]

  • RichardsS, AzizN, BaleS, BickD, DasS, Gastier-FosterJ, GrodyWW, HegdeM, LyonE, SpectorE, VoelkerdingK, RehmHL, et al.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med.2015;17:405-24. [PMC free article: PMC4544753] [PubMed: 25741868]

  • RichterD, ConleyME, RohrerJ, MyersLA, ZahradkaK, KelecicJ, SerticJ, Stavljenic-RukavinaA. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.Pediatr Allergy Immunol.2001;12:107–11. [PubMed: 11338284]

  • RivièreJG, Franco-JaravaC, Martínez-GalloM, Aguiló-CucurullA, Blasco-PérezL, ParamonovI, AntolínM, Martín-NaldaA, Soler-PalacínP, ColobranR. Uncovering low-level maternal gonosomal mosaicism in X-linked agammaglobulinemia: implications for genetic counseling.Front Immunol.2020;11:46. [PMC free article: PMC7028698] [PubMed: 32117230]

  • SakamotoM, KaneganeH, FujiiH, TsukadaS, MiyawakiT, ShinomiyaN. Maternal germinal mosaicism of X-linked agammaglobulinemia.Am J Med Genet.2001;99:234–7. [PubMed: 11241495]

  • SatherBD, RyuBY, StirlingBV, GaribovM, KernsHM, Humblet-BaronS, AstrakhanA, RawlingsDJ. Development of B-lineage predominant lentiviral vectors for use in genetic therapies for B cell disorders.Mol Ther.2011;19:515-25. [PMC free article: PMC3048182] [PubMed: 21139568]

  • Schaafsma GCP, Väliaho J, Wang Q, Berglöf A, Zain R, Smith CIE, Vihinen M. BTKbase, Bruton tyrosine kinase variant database in X-linked agammaglobulinemia – looking back and ahead. Hum Mut. 2023. Epub ahead of print.

  • SediváA, SmithCI, AsplundAC, HadacJ, JandaA, ZemanJ, HansíkováH, DvorákováL, MrázováL, VelbriS, KoehlerC, RoeschK, SullivanKE, FutataniT, OchsHD. Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.J Clin Immunol.2007;27:640–6. [PubMed: 17851739]

  • SimonsE, SpacekLA, LedermanHM, WinkelsteinJA. Helicobacter cinaedi bacteremia presenting as macules in an afebrile patient with X-linked agammaglobulinemia.Infection.2004;32:367–8. [PubMed: 15597229]

  • TakadaH, KaneganeH, NomuraA, YamamotoK, IharaK, TakahashiY, TsukadaS, MiyawakiT, HaraT. Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation.Blood.2004;103:185–7. [PubMed: 12958074]

  • TangyeSG, Al-HerzW, BousfihaA, Cunningham-RundlesC, FrancoJL, HollandSM, KleinC, MorioT, OksenhendlerE, PicardC, PuelA, PuckJ, SeppänenMRJ, SomechR, SuHC, SullivanKE, TorgersonTR, MeytsI. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee.J Clin Immunol.2022;42:1473-507. [PMC free article: PMC9244088] [PubMed: 35748970]

  • VäliahoJ, SmithCI, VihinenM. BTKbase: the mutation database for X-linked agammaglobulinemia.Hum Mutat.2006;27:1209–17. [PubMed: 16969761]

  • van ZelmMC, GeertsemaC, NieuwenhuisN, de RidderD, ConleyME, SchiffC, TezcanI, BernatowskaE, HartwigNG, SandersEA, LitzmanJ, KondratenkoI, van DongenJJ, van der BurgM. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.Am J Hum Genet.2008;82:320–32. [PMC free article: PMC2427306] [PubMed: 18252213]

  • WilfertCM, BuckleyRH, MohanakumarT, GriffithJF, KatzSL, WhisnantJK, EgglestonPA, MooreM, TreadwellE, OxmanMN, RosenFS. Persistent and fatal central-nervous-system ECHOvirus infections in patients with agammaglobulinemia.N Engl J Med.1977;296:1485–9. [PubMed: 301244]

  • ZiegnerUH, KobayashiRH, Cunningham-RundlesC, EspañolT, FasthA, HuttenlocherA, KrogstadP, MarthinsenL, NotarangeloLD, PasicS, RiegerCH, RudgeP, SankarR, ShigeokaAO, StiehmER, SullivanKE, WebsterAD, OchsHD. Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment.Clin Immunol.2002;102:19–24. [PubMed: 11781063]

  • X-Linked Agammaglobulinemia (2024)
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