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J.w.m. Van Der Meer - One of the best experts on this subject based on the ideXlab platform.

  • mildEr clinical HypErimmunoglobulin E syndromE phEnotypE is associatEd with partial intErlEukin 17 dEficiEncy
    Clinical and Experimental Immunology, 2010
    Co-Authors: F.l. Van De Veerdonk, Renoud J. Marijnissen, Leo A. B. Joosten, B.j. Kullberg, Joost P.h. Drenth, Mihai G. Netea, J.w.m. Van Der Meer
    Abstract:

    Mutations in thE signal transducEr and activator of transcription 3 (STAT3) wErE rEportEd to causE HypErimmunoglobulin E syndromE (HIES). ThE prEsEnt study invEstigatEs T hElpEr typE 17 (Th17) rEsponsEs triggErEd by thE rElEvant stimuli Staphylococcus aurEus and Candidia albicans in fivE 'classical' HIES patiEnts, and a family with thrEE patiEnts who all had a mildEr HIES phEnotypE. WE dEmonstratE that patiEnts with various forms of HIES havE diffErEnt dEfEcts in thEir Th17 rEsponsE to S. aurEus and C. albicans, and this is in linE with thE clinical fEaturEs of thE disEasE. IntErEstingly, a partial dEficiEncy of intErlEukin (IL)-17 production, EvEn whEn associatEd with STAT3 mutations, lEads to a mildEr clinical phEnotypE. WE also obsErvEd dEfEctivE Th17 rEsponsEs in patiEnts with thE 'classical' prEsEntation of thE disEasE but without STAT3 mutations. ThEsE data dEmonstratE that dEfEctivE IL-17 production in rEsponsE to spEcific pathogEns can diffEr bEtwEEn patiEnts with HIES and that thE ExtEnt of thE dEfEctivE Th17 rEsponsE dEtErminEs thEir clinical phEnotypE.

  • MildEr clinical HypErimmunoglobulin E syndromE phEnotypE is associatEd with partial intErlEukin‐17 dEficiEncy
    Clinical and experimental immunology, 2009
    Co-Authors: F.l. Van De Veerdonk, Renoud J. Marijnissen, Leo A. B. Joosten, B.j. Kullberg, Joost P.h. Drenth, Mihai G. Netea, J.w.m. Van Der Meer
    Abstract:

    Mutations in thE signal transducEr and activator of transcription 3 (STAT3) wErE rEportEd to causE HypErimmunoglobulin E syndromE (HIES). ThE prEsEnt study invEstigatEs T hElpEr typE 17 (Th17) rEsponsEs triggErEd by thE rElEvant stimuli Staphylococcus aurEus and Candidia albicans in fivE 'classical' HIES patiEnts, and a family with thrEE patiEnts who all had a mildEr HIES phEnotypE. WE dEmonstratE that patiEnts with various forms of HIES havE diffErEnt dEfEcts in thEir Th17 rEsponsE to S. aurEus and C. albicans, and this is in linE with thE clinical fEaturEs of thE disEasE. IntErEstingly, a partial dEficiEncy of intErlEukin (IL)-17 production, EvEn whEn associatEd with STAT3 mutations, lEads to a mildEr clinical phEnotypE. WE also obsErvEd dEfEctivE Th17 rEsponsEs in patiEnts with thE 'classical' prEsEntation of thE disEasE but without STAT3 mutations. ThEsE data dEmonstratE that dEfEctivE IL-17 production in rEsponsE to spEcific pathogEns can diffEr bEtwEEn patiEnts with HIES and that thE ExtEnt of thE dEfEctivE Th17 rEsponsE dEtErminEs thEir clinical phEnotypE.

  • Critical anEurysmal dilatation of thE thoracic aorta in young adolEscEnts with variant HypErimmunoglobulin E syndromE
    Journal of internal medicine, 2006
    Co-Authors: J.w.m. Van Der Meer, Mihai G. Netea, Corry M.r. Weemaes, J.h.j.m. Van Krieken, C.e.m. Blomjous, C.e. Van Die, Sebastian J.h. Bredie
    Abstract:

    ThE autosomal-dominant (AD) form of thE HypErimmunoglobulin E syndromE (HIES) has bEEn dEscribEd as a multisystEm disordEr including immunE, skElEtal and dEntal abnormalitiEs. REcEntly, thE Evaluation of patiEnts from familiEs in which HIES was inhEritEd in a mannEr morE consistEnt with autosomal-rEcEssivE (AR) inhEritancE, showEd that AR-HIES is a clinically distinct disEasE Entity. In addition to classical immunologic findings of AD-HIES, thE AR form prEsEnts with sEvErE rEcurrEnt fungal and viral infEctions with hErpEs zostEr, hErpEs simplEx and charactEristic mollusca contagiosa. FurthErmorE, cErEbral vascular sEquElaE, including vasculitis, infarction and haEmorrhagE wErE notEd. In this rEport, wE dEscribE thE clinical picturE of two patiEnts who showEd rEmarkablE rEsEmblancE to thE dEscription of AR-HIES, but also dEvElopEd fatal anEurysmal dilatation of thE thoracic aorta in adolEscEncE. This finding may furthEr consummatE thE clinical picturE of AR-HIES and EmphasizE thE possibility to dEvElop Early aortitis, most likEly prEcEding thE critical anEurysm formation at oldEr agE. This procEss should bE anticipatEd during childhood in casEs with AR-HIES.

Christophe Marguet - One of the best experts on this subject based on the ideXlab platform.

  • LifE-ThrEatEning PnEumopathy and U urEalyticum in a STAT3-DEficiEnt HypEr-IgE SyndromE PatiEnt.
    Pediatrics, 2017
    Co-Authors: Guillaume Deverrière, Ludovic Lemée, Steven Grangé, Sophie Boyer, Capucine Picard, Alain Fischer, Christophe Marguet
    Abstract:

    A dEficiEncy in signal transducEr and activator of transcription 3 (STAT3) is rEsponsiblE for autosomal dominant HypErimmunoglobulin E syndromE, an immunodEficiEncy syndromE causing Staphylococcus aurEus, StrEptococcus pnEumonia, HaEmophilus influEnzaE, and, rarEly, PsEudomonas aEruginosa and AspErgillus sp infEctions. CurrEntly, intracEllular pathogEns arE not targEtEd in thE managEmEnt of sEvErE infEctions. ThE pathophysiologic mEchanism of HypErimmunoglobulin E syndromE immunodEficiEncy has rEcEntly bEEn linkEd to a disordEr in thE T hElpEr 17 pathway and disruption of thE intErlEukin -23/intErlEukin-17 axis. WE rEport an unusual casE of sEvErE plEuropnEumopathy by UrEaplasma urEalyticum in a tEEnagE girl with STAT3-dEficiEnt HypErimmunoglobulin E syndromE (STAT3 HIES). A prEvious casE of sEvErE lung infEction by Mycoplasma pnEumoniaE has alrEady bEEn dEscribEd in a STAT3-dEficiEnt patiEnt, but U urEalyticum has nEvEr bEEn rEportEd in patiEnts with STAT3 HIES. AftEr a rEviEw of thE litEraturE, it sEEms that thE spEcific immunodEficiEncy pathway of STAT3 HIES ExposEs STAT3 HIES patiEnts to UrEaplasma lung infEctions bEcausE thE pathophysiology of STAT3 HIES and UrEaplasma is basEd on STAT3 and T hElpEr 17 cElls.

Seang Beng Tan - One of the best experts on this subject based on the ideXlab platform.

  • HypErimmunoglobulin E syndromE (job syndromE) discovErEd in a patiEnt following corrEctivE spinE surgEry: casE rEport and rEviEw of thE litEraturE.
    Spine, 2006
    Co-Authors: Wu Meng Tan, David Arumaisingam Kandiah, Seang Beng Tan
    Abstract:

    A casE rEport of thE HypErimmunoglobulin E syndromE (Job syndromE) prEsEnting in thE contExt of latE postopErativE infEction aftEr corrEctivE surgEry for scoliosis. To dEscribE thE clinical prEsEntation and trEatmEnt of a patiEnt with Job syndromE, and its implications for spinE surgEons. Job syndromE classically prEsEnts with a triad of incrEasEd sErum immunoglobulin E, multiplE abscEssEs, and pnEumonia with pnEumatocElE formation. In rEcEnt yEars nonimmunologic manifEstations havE bEEn dEscribEd, including scoliosis, joint hypErmobility, Eosinophilia, and atopy. A 15-yEar-old fEmalE prEsEntEd with local swElling and fEvEr 2 yEars aftEr antErior lumbar discEctomy and fusion with spinal instrumEntation involving T11-L3 lEvEls. ComputErizEd tomography rEvEalEd paravErtEbral, psoas, and pulmonary abscEssEs. ThE implants wErE rEmovEd and antibiotic thErapy institutEd. FurthEr invEstigation rEvEalEd fEaturEs of thE HypErimmunoglobulin E syndromE (Job syndromE). ThE patiEnt's symptoms rEsolvEd, as did markErs of inflammation. Job syndromE is a primary immunodEficiEncy oftEn associatEd with scoliosis. GivEn thE implications for surgical outcomE in immunodEficiEnt patiEnts, thE diagnosis should bE considErEd and, blood tEsts institutEd in patiEnts with scoliosis with any of thE associatEd history and physical findings of Job syndromE.

  • HypErimmunoglobulin E syndromE (Job syndromE) discovErEd in a patiEnt following corrEctivE spinE surgEry: CasE rEport and rEviEw of thE litEraturE
    Spine, 2006
    Co-Authors: Wu Meng Tan, David Arumaisingam Kandiah, Seang Beng Tan
    Abstract:

    STUDY DESIGN: A casE rEport of thE HypErimmunoglobulin E syndromE (Job syndromE) prEsEnting in thE contExt of latE postopErativE infEction aftEr corrEctivE surgEry for scoliosis.\n\nOBJECTIVE: To dEscribE thE clinical prEsEntation and trEatmEnt of a patiEnt with Job syndromE, and its implications for spinE surgEons.\n\nSUMMARY OF BACKGROUND DATA: Job syndromE classically prEsEnts with a triad of incrEasEd sErum immunoglobulin E, multiplE abscEssEs, and pnEumonia with pnEumatocElE formation. In rEcEnt yEars nonimmunologic manifEstations havE bEEn dEscribEd, including scoliosis, joint hypErmobility, Eosinophilia, and atopy.\n\nMETHODS: A 15-yEar-old fEmalE prEsEntEd with local swElling and fEvEr 2 yEars aftEr antErior lumbar discEctomy and fusion with spinal instrumEntation involving T11-L3 lEvEls. ComputErizEd tomography rEvEalEd paravErtEbral, psoas, and pulmonary abscEssEs. ThE implants wErE rEmovEd and antibiotic thErapy institutEd. FurthEr invEstigation rEvEalEd fEaturEs of thE HypErimmunoglobulin E syndromE (Job syndromE).\n\nRESULTS: ThE patiEnt's symptoms rEsolvEd, as did markErs of inflammation.\n\nCONCLUSIONS: Job syndromE is a primary immunodEficiEncy oftEn associatEd with scoliosis. GivEn thE implications for surgical outcomE in immunodEficiEnt patiEnts, thE diagnosis should bE considErEd and, blood tEsts institutEd in patiEnts with scoliosis with any of thE associatEd history and physical findings of Job syndromE.

Mihai G. Netea - One of the best experts on this subject based on the ideXlab platform.

  • mildEr clinical HypErimmunoglobulin E syndromE phEnotypE is associatEd with partial intErlEukin 17 dEficiEncy
    Clinical and Experimental Immunology, 2010
    Co-Authors: F.l. Van De Veerdonk, Renoud J. Marijnissen, Leo A. B. Joosten, B.j. Kullberg, Joost P.h. Drenth, Mihai G. Netea, J.w.m. Van Der Meer
    Abstract:

    Mutations in thE signal transducEr and activator of transcription 3 (STAT3) wErE rEportEd to causE HypErimmunoglobulin E syndromE (HIES). ThE prEsEnt study invEstigatEs T hElpEr typE 17 (Th17) rEsponsEs triggErEd by thE rElEvant stimuli Staphylococcus aurEus and Candidia albicans in fivE 'classical' HIES patiEnts, and a family with thrEE patiEnts who all had a mildEr HIES phEnotypE. WE dEmonstratE that patiEnts with various forms of HIES havE diffErEnt dEfEcts in thEir Th17 rEsponsE to S. aurEus and C. albicans, and this is in linE with thE clinical fEaturEs of thE disEasE. IntErEstingly, a partial dEficiEncy of intErlEukin (IL)-17 production, EvEn whEn associatEd with STAT3 mutations, lEads to a mildEr clinical phEnotypE. WE also obsErvEd dEfEctivE Th17 rEsponsEs in patiEnts with thE 'classical' prEsEntation of thE disEasE but without STAT3 mutations. ThEsE data dEmonstratE that dEfEctivE IL-17 production in rEsponsE to spEcific pathogEns can diffEr bEtwEEn patiEnts with HIES and that thE ExtEnt of thE dEfEctivE Th17 rEsponsE dEtErminEs thEir clinical phEnotypE.

  • MildEr clinical HypErimmunoglobulin E syndromE phEnotypE is associatEd with partial intErlEukin‐17 dEficiEncy
    Clinical and experimental immunology, 2009
    Co-Authors: F.l. Van De Veerdonk, Renoud J. Marijnissen, Leo A. B. Joosten, B.j. Kullberg, Joost P.h. Drenth, Mihai G. Netea, J.w.m. Van Der Meer
    Abstract:

    Mutations in thE signal transducEr and activator of transcription 3 (STAT3) wErE rEportEd to causE HypErimmunoglobulin E syndromE (HIES). ThE prEsEnt study invEstigatEs T hElpEr typE 17 (Th17) rEsponsEs triggErEd by thE rElEvant stimuli Staphylococcus aurEus and Candidia albicans in fivE 'classical' HIES patiEnts, and a family with thrEE patiEnts who all had a mildEr HIES phEnotypE. WE dEmonstratE that patiEnts with various forms of HIES havE diffErEnt dEfEcts in thEir Th17 rEsponsE to S. aurEus and C. albicans, and this is in linE with thE clinical fEaturEs of thE disEasE. IntErEstingly, a partial dEficiEncy of intErlEukin (IL)-17 production, EvEn whEn associatEd with STAT3 mutations, lEads to a mildEr clinical phEnotypE. WE also obsErvEd dEfEctivE Th17 rEsponsEs in patiEnts with thE 'classical' prEsEntation of thE disEasE but without STAT3 mutations. ThEsE data dEmonstratE that dEfEctivE IL-17 production in rEsponsE to spEcific pathogEns can diffEr bEtwEEn patiEnts with HIES and that thE ExtEnt of thE dEfEctivE Th17 rEsponsE dEtErminEs thEir clinical phEnotypE.

  • Critical anEurysmal dilatation of thE thoracic aorta in young adolEscEnts with variant HypErimmunoglobulin E syndromE
    Journal of internal medicine, 2006
    Co-Authors: J.w.m. Van Der Meer, Mihai G. Netea, Corry M.r. Weemaes, J.h.j.m. Van Krieken, C.e.m. Blomjous, C.e. Van Die, Sebastian J.h. Bredie
    Abstract:

    ThE autosomal-dominant (AD) form of thE HypErimmunoglobulin E syndromE (HIES) has bEEn dEscribEd as a multisystEm disordEr including immunE, skElEtal and dEntal abnormalitiEs. REcEntly, thE Evaluation of patiEnts from familiEs in which HIES was inhEritEd in a mannEr morE consistEnt with autosomal-rEcEssivE (AR) inhEritancE, showEd that AR-HIES is a clinically distinct disEasE Entity. In addition to classical immunologic findings of AD-HIES, thE AR form prEsEnts with sEvErE rEcurrEnt fungal and viral infEctions with hErpEs zostEr, hErpEs simplEx and charactEristic mollusca contagiosa. FurthErmorE, cErEbral vascular sEquElaE, including vasculitis, infarction and haEmorrhagE wErE notEd. In this rEport, wE dEscribE thE clinical picturE of two patiEnts who showEd rEmarkablE rEsEmblancE to thE dEscription of AR-HIES, but also dEvElopEd fatal anEurysmal dilatation of thE thoracic aorta in adolEscEncE. This finding may furthEr consummatE thE clinical picturE of AR-HIES and EmphasizE thE possibility to dEvElop Early aortitis, most likEly prEcEding thE critical anEurysm formation at oldEr agE. This procEss should bE anticipatEd during childhood in casEs with AR-HIES.

Y L Lau - One of the best experts on this subject based on the ideXlab platform.

  • signal transducEr and activator of transcription 3 stat3 gEnE mutations in two patiEnts with HypErimmunoglobulin E syndromE
    2009
    Co-Authors: Ims Tang, T L Lee, K W Chan, Ppw Lee, Tnh Leung, Y L Lau
    Abstract:

    ThE autosomal dominant (AD) HypErimmunoglobulin E syndromE (HIES, Job syndromE) is a primary immunodEficiEncy with multiplE systEmic involvEmEnts. It is charactErisEd by grossly raisEd sErum immunoglobulin E (IgE) lEvEl with rEcurrEnt cutanEous and pulmonary infEctions, EczEma, pnEumatocoElEs, dEntal and musculoskElEtal problEms. ThE occurrEncE of thE classic triads, namEly rEcurrEnt cold abscEssEs, pnEumatocoElE formation and raisEd sErum immunoglobulin E should alErt thE clinicians on thE diagnosis of HIES. Mutations in thE signal transducEr and activator of transcription 3 (STAT3) gEnE havE bEEn idEntifiEd rEcEntly to bE thE causE of AD HIES. WE rEport 3 patiEnts with HIES, in whom 2 wErE found to havE STAT3 gEnE mutations.

  • Signal transducEr and activator of transcription 3 (STAT3) gEnE mutations in two patiEnts with HypErimmunoglobulin E syndromE
    'The University of Hong Kong Libraries', 2009
    Co-Authors: Leung Tnh, T L Lee, K W Chan, Tang Ims, Ho Mhk, Lee Ppw, Y L Lau
    Abstract:

    ThE autosomal dominant (AD) HypErimmunoglobulin E syndromE (HIES, Job syndromE) is a primary immunodEficiEncy with multiplE systEmic involvEmEnts. It is charactErisEd by grossly raisEd sErum immunoglobulin E (IgE) lEvEl with rEcurrEnt cutanEous and pulmonary infEctions, EczEma, pnEumatocoElEs, dEntal and musculoskElEtal problEms. ThE occurrEncE of thE classic triads, namEly rEcurrEnt cold abscEssEs, pnEumatocoElE formation and raisEd sErum immunoglobulin E should alErt thE clinicians on thE diagnosis of HIES. Mutations in thE signal transducEr and activator of transcription 3 (STAT3) gEnE havE bEEn idEntifiEd rEcEntly to bE thE causE of AD HIES. WE rEport 3 patiEnts with HIES, in whom 2 wErE found to havE STAT3 gEnE mutations.link_to_subscribEd_fulltEx