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A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome

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dc.contributor.authorBoisson, Stephanie Dupuis
dc.contributor.authorKreins, Alexandra Y.
dc.contributor.authorGrant, Audrey V.
dc.contributor.authorAbel, Laurent
dc.contributor.authorCasanova, Jean-Laurent
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.buuauthorHacımustafaoğlu, Mustafa
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentPediatri Ana Bilim Dalı
dc.contributor.orcid0000-0001-8571-2581
dc.contributor.researcheridAAH-1658-2021
dc.contributor.scopusid34975059200
dc.contributor.scopusid6602154166
dc.date.accessioned2021-12-01T10:17:15Z
dc.date.available2021-12-01T10:17:15Z
dc.date.issued2012-06
dc.description.abstractWe describe a Turkish patient with tyrosine kinase 2 deficiency who suffered from disseminated Bacille Calmette-Guerin infection, neurobrucellosis, and cutaneous herpes zoster infection. Tyrosine kinase 2 deficiency should be considered in patients susceptible to herpes viruses and intramacrophage pathogens even in the absence of atopy, high serum IgE, and staphylococcal disease.
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA - 5UL1RR024143
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR) - UL1RR024143
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Allergy & Infectious Diseases (NIAID) - R37AI095983 - R01AI089970
dc.identifier.citationKılıç, S. Ş. vd. (2012). "A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome". Journal of Pediatrics, 160(6), 1055-1057.
dc.identifier.doi10.1016/j.jpeds.2012.01.056
dc.identifier.endpage1057
dc.identifier.issn0022-3476
dc.identifier.issue6
dc.identifier.pubmed22402565
dc.identifier.scopus2-s2.0-84860015114
dc.identifier.startpage1055
dc.identifier.urihttps://doi.org/10.1016/j.jpeds.2012.01.056
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S002234761200114X
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/22402565/
dc.identifier.urihttp://hdl.handle.net/11452/22929
dc.identifier.volume160
dc.identifier.wos000304377300034
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherMosby-Elsevier
dc.relation.collaborationYurt dışı
dc.relation.collaborationSanayi
dc.relation.journalJournal of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectPediatrics
dc.subjectMutations
dc.subjectImmunity
dc.subjectDock8
dc.subject.emtreeAciclovir
dc.subject.emtreeBcg vaccine
dc.subject.emtreeCefuroxime
dc.subject.emtreeClindamycin
dc.subject.emtreeCotrimoxazole
dc.subject.emtreeFocal adhesion kinase 1
dc.subject.emtreeImmunoglobulin e
dc.subject.emtreeIsoniazid
dc.subject.emtreePyrazinamide
dc.subject.emtreeRifampicin
dc.subject.emtreeStreptomycin
dc.subject.emtreeAdult
dc.subject.emtreeAnamnesis
dc.subject.emtreeArticle
dc.subject.emtreeAtopic dermatitis
dc.subject.emtreeAudiometry
dc.subject.emtreeBacillus calmette guerin infection
dc.subject.emtreeBacterial infection
dc.subject.emtreeBlood cell count
dc.subject.emtreeBrucellosis
dc.subject.emtreeCase report
dc.subject.emtreeChild
dc.subject.emtreeClinical feature
dc.subject.emtreeComputer assisted tomography
dc.subject.emtreeElectroencephalography
dc.subject.emtreeEnzyme deficiency
dc.subject.emtreeHearing aid
dc.subject.emtreeHerpes virus
dc.subject.emtreeHerpes zoster
dc.subject.emtreeHistopathology
dc.subject.emtreeHuman
dc.subject.emtreeHyper Ige syndrome
dc.subject.emtreeKidney function
dc.subject.emtreeLiver function
dc.subject.emtreeLymphadenopathy
dc.subject.emtreeMacrophage
dc.subject.emtreeMale
dc.subject.emtreeNuclear magnetic resonance imaging
dc.subject.emtreePhysical examination
dc.subject.emtreePreschool child
dc.subject.emtreePriority journal
dc.subject.emtreeSchool child
dc.subject.emtreeSkin test
dc.subject.emtreeStaphylococcus infection
dc.subject.emtreeThorax radiography
dc.subject.meshChild
dc.subject.meshDiagnosis, differential
dc.subject.meshFollow-up studies
dc.subject.meshHumans
dc.subject.meshImmunologic deficiency syndromes
dc.subject.meshJob's syndrome
dc.subject.meshMagnetic resonance imaging
dc.subject.meshMale
dc.subject.meshTyk2 kinase
dc.subject.scopusJob Syndrome; Mucocutaneous Candidiasis; Gain of Function Mutation
dc.subject.wosPediatrics
dc.titleA patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome
dc.typeArticle
dc.wos.quartileQ1
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Pediatri Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS

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