A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome
dc.contributor.author | Boisson, Stephanie Dupuis | |
dc.contributor.author | Kreins, Alexandra Y. | |
dc.contributor.author | Grant, Audrey V. | |
dc.contributor.author | Abel, Laurent | |
dc.contributor.author | Casanova, Jean-Laurent | |
dc.contributor.buuauthor | Kılıç, Sara Şebnem | |
dc.contributor.buuauthor | Hacımustafaoğlu, Mustafa | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı. | tr_TR |
dc.contributor.orcid | 0000-0001-8571-2581 | tr_TR |
dc.contributor.researcherid | AAH-1658-2021 | tr_TR |
dc.contributor.scopusid | 34975059200 | tr_TR |
dc.contributor.scopusid | 6602154166 | tr_TR |
dc.date.accessioned | 2021-12-01T10:17:15Z | |
dc.date.available | 2021-12-01T10:17:15Z | |
dc.date.issued | 2012-06 | |
dc.description.abstract | We 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. | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA - 5UL1RR024143 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Center for Research Resources (NCRR) - UL1RR024143 | en_US |
dc.description.sponsorship | United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Allergy & Infectious Diseases (NIAID) - R37AI095983 - R01AI089970 | en_US |
dc.identifier.citation | Kılıç, S. Ş. vd. (2012). "A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome". Journal of Pediatrics, 160(6), 1055-1057. | en_US |
dc.identifier.endpage | 1057 | tr_TR |
dc.identifier.issn | 0022-3476 | |
dc.identifier.issue | 6 | tr_TR |
dc.identifier.pubmed | 22402565 | tr_TR |
dc.identifier.scopus | 2-s2.0-84860015114 | tr_TR |
dc.identifier.startpage | 1055 | tr_TR |
dc.identifier.uri | https://doi.org/10.1016/j.jpeds.2012.01.056 | |
dc.identifier.uri | https://www.sciencedirect.com/science/article/pii/S002234761200114X | |
dc.identifier.uri | https://pubmed.ncbi.nlm.nih.gov/22402565/ | |
dc.identifier.uri | http://hdl.handle.net/11452/22929 | |
dc.identifier.volume | 160 | tr_TR |
dc.identifier.wos | 000304377300034 | |
dc.indexed.pubmed | Pubmed | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.wos | SCIE | en_US |
dc.language.iso | en | en_US |
dc.publisher | Mosby-Elsevier | en_US |
dc.relation.collaboration | Yurt dışı | tr_TR |
dc.relation.collaboration | Sanayi | tr_TR |
dc.relation.journal | Journal of Pediatrics | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Pediatrics | en_US |
dc.subject | Mutations | en_US |
dc.subject | Immunity | en_US |
dc.subject | Dock8 | en_US |
dc.subject.emtree | Aciclovir | en_US |
dc.subject.emtree | Bcg vaccine | en_US |
dc.subject.emtree | Cefuroxime | en_US |
dc.subject.emtree | Clindamycin | en_US |
dc.subject.emtree | Cotrimoxazole | en_US |
dc.subject.emtree | Focal adhesion kinase 1 | en_US |
dc.subject.emtree | Immunoglobulin e | en_US |
dc.subject.emtree | Isoniazid | en_US |
dc.subject.emtree | Pyrazinamide | en_US |
dc.subject.emtree | Rifampicin | en_US |
dc.subject.emtree | Streptomycin | en_US |
dc.subject.emtree | Adult | en_US |
dc.subject.emtree | Anamnesis | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Atopic dermatitis | en_US |
dc.subject.emtree | Audiometry | en_US |
dc.subject.emtree | Bacillus calmette guerin infection | en_US |
dc.subject.emtree | Bacterial infection | en_US |
dc.subject.emtree | Blood cell count | en_US |
dc.subject.emtree | Brucellosis | en_US |
dc.subject.emtree | Case report | en_US |
dc.subject.emtree | Child | en_US |
dc.subject.emtree | Clinical feature | en_US |
dc.subject.emtree | Computer assisted tomography | en_US |
dc.subject.emtree | Electroencephalography | en_US |
dc.subject.emtree | Enzyme deficiency | en_US |
dc.subject.emtree | Hearing aid | en_US |
dc.subject.emtree | Herpes virus | en_US |
dc.subject.emtree | Herpes zoster | en_US |
dc.subject.emtree | Histopathology | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Hyper Ige syndrome | en_US |
dc.subject.emtree | Kidney function | en_US |
dc.subject.emtree | Liver function | en_US |
dc.subject.emtree | Lymphadenopathy | en_US |
dc.subject.emtree | Macrophage | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Nuclear magnetic resonance imaging | en_US |
dc.subject.emtree | Physical examination | en_US |
dc.subject.emtree | Preschool child | en_US |
dc.subject.emtree | Priority journal | en_US |
dc.subject.emtree | School child | en_US |
dc.subject.emtree | Skin test | en_US |
dc.subject.emtree | Staphylococcus infection | en_US |
dc.subject.emtree | Thorax radiography | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Diagnosis, differential | en_US |
dc.subject.mesh | Follow-up studies | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Immunologic deficiency syndromes | en_US |
dc.subject.mesh | Job's syndrome | en_US |
dc.subject.mesh | Magnetic resonance imaging | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Tyk2 kinase | en_US |
dc.subject.scopus | Job Syndrome; Mucocutaneous Candidiasis; Gain of Function Mutation | en_US |
dc.subject.wos | Pediatrics | en_US |
dc.title | A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome | en_US |
dc.type | Article | |
dc.wos.quartile | Q1 | en_US |