Publication:
SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome

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dc.contributor.authorHacíhamdioǧlu, Duygu Övünç
dc.contributor.authorAltan Ferhatoǧlu, Zeynep M.
dc.contributor.authorKarkucak, Mutlu
dc.contributor.authorFisek Izci, Neslihan Müge
dc.contributor.authorYakut, Tahsin
dc.contributor.institutionHacíhamdioǧlu, Duygu Övünç, Department of Pediatrics, Bahçeşehir Üniversitesi, Istanbul, Turkey
dc.contributor.institutionAltan Ferhatoǧlu, Zeynep M., Department of Dermatology, Bahçeşehir Üniversitesi, Istanbul, Turkey
dc.contributor.institutionKarkucak, Mutlu, Medical Geneticist, İstinye Üniversitesi, Istanbul, Turkey
dc.contributor.institutionFisek Izci, Neslihan Müge, Department of Dermatology, Bahçeşehir Üniversitesi, Istanbul, Turkey
dc.contributor.institutionYakut, Tahsin, Medical Geneticist, İstinye Üniversitesi, Istanbul, Turkey
dc.date.accessioned2025-10-05T15:24:28Z
dc.date.issued2022
dc.description.abstract[No abstract available]
dc.identifier.doi10.1111/ped.15087
dc.identifier.issn1442200X
dc.identifier.issn13288067
dc.identifier.issue1
dc.identifier.pubmed35438212
dc.identifier.scopus2-s2.0-85128514394
dc.identifier.urihttps://doi.org/10.1111/ped.15087
dc.identifier.urihttps://hdl.handle.net/20.500.14719/9184
dc.identifier.volume64
dc.language.isoen
dc.publisherJohn Wiley and Sons Inc
dc.relation.sourcePediatrics International
dc.subject.authorkeywordsFilaggrin
dc.subject.authorkeywordsNetherton Syndrome
dc.subject.authorkeywordsSpink5
dc.subject.authorkeywordsAmino Acid
dc.subject.authorkeywordsAmmonia
dc.subject.authorkeywordsAmpicillin
dc.subject.authorkeywordsC Reactive Protein
dc.subject.authorkeywordsCefotaxime
dc.subject.authorkeywordsChloride
dc.subject.authorkeywordsCreatinine
dc.subject.authorkeywordsGlycerol
dc.subject.authorkeywordsImmunoglobulin
dc.subject.authorkeywordsLactic Acid
dc.subject.authorkeywordsMeasles Mumps Rubella Vaccine
dc.subject.authorkeywordsNicotinamide
dc.subject.authorkeywordsPetrolatum
dc.subject.authorkeywordsPotassium
dc.subject.authorkeywordsUric Acid
dc.subject.authorkeywordsSerine Peptidase Inhibitor Kazal-type 5
dc.subject.authorkeywordsSpink5 Protein, Human
dc.subject.authorkeywordsAmino Acid
dc.subject.authorkeywordsAmmonia
dc.subject.authorkeywordsAmpicillin
dc.subject.authorkeywordsAntibiotic Agent
dc.subject.authorkeywordsC Reactive Protein
dc.subject.authorkeywordsCarboxylic Acid
dc.subject.authorkeywordsCefotaxime
dc.subject.authorkeywordsChloride
dc.subject.authorkeywordsCorticosteroid
dc.subject.authorkeywordsCreatinine
dc.subject.authorkeywordsEmollient Agent
dc.subject.authorkeywordsGlucose Plus Sodium Chloride
dc.subject.authorkeywordsGlycerol
dc.subject.authorkeywordsImmunoglobulin
dc.subject.authorkeywordsLactic Acid
dc.subject.authorkeywordsLong Chain Fatty Acid
dc.subject.authorkeywordsMeasles Mumps Rubella Vaccine
dc.subject.authorkeywordsNicotinamide
dc.subject.authorkeywordsPetrolatum
dc.subject.authorkeywordsPotassium
dc.subject.authorkeywordsSerine Peptidase Inhibitor Kazal Type 5
dc.subject.authorkeywordsUric Acid
dc.subject.authorkeywordsSpink5 Protein, Human
dc.subject.authorkeywordsAcute Kidney Failure
dc.subject.authorkeywordsArtificial Milk
dc.subject.authorkeywordsAtopic Dermatitis
dc.subject.authorkeywordsBlood Culture
dc.subject.authorkeywordsBody Weight Loss
dc.subject.authorkeywordsBreast Milk
dc.subject.authorkeywordsButter
dc.subject.authorkeywordsCase Report
dc.subject.authorkeywordsClinical Article
dc.subject.authorkeywordsDehydration
dc.subject.authorkeywordsEczema
dc.subject.authorkeywordsEdema
dc.subject.authorkeywordsEndoscopy
dc.subject.authorkeywordsEnteric Feeding
dc.subject.authorkeywordsErythema
dc.subject.authorkeywordsFlg Gene
dc.subject.authorkeywordsFollow Up
dc.subject.authorkeywordsFood Allergy
dc.subject.authorkeywordsGene Deletion
dc.subject.authorkeywordsGene Mutation
dc.subject.authorkeywordsGrowth Hormone Deficiency
dc.subject.authorkeywordsHuman
dc.subject.authorkeywordsHypernatremia
dc.subject.authorkeywordsIchthyosis Vulgaris
dc.subject.authorkeywordsInfant
dc.subject.authorkeywordsLeukocytosis
dc.subject.authorkeywordsNetherton Disease
dc.subject.authorkeywordsNote
dc.subject.authorkeywordsNuclear Magnetic Resonance Imaging
dc.subject.authorkeywordsPh
dc.subject.authorkeywordsRestlessness
dc.subject.authorkeywordsSepsis
dc.subject.authorkeywordsSerpiginous Erythematous Plaque
dc.subject.authorkeywordsSkin Exfoliation
dc.subject.authorkeywordsSpink5 Gene
dc.subject.authorkeywordsThyroid Function Test
dc.subject.authorkeywordsTriticum Aestivum
dc.subject.authorkeywordsUrea Nitrogen Blood Level
dc.subject.authorkeywordsUrine Culture
dc.subject.authorkeywordsUrine Osmolality
dc.subject.authorkeywordsVomiting
dc.subject.authorkeywordsWheat Bran
dc.subject.authorkeywordsWhole Exome Sequencing
dc.subject.authorkeywordsGenetics
dc.subject.authorkeywordsMutation
dc.subject.authorkeywordsPhenotype
dc.subject.authorkeywordsGene Deletion
dc.subject.authorkeywordsHumans
dc.subject.authorkeywordsInfant
dc.subject.authorkeywordsMutation
dc.subject.authorkeywordsNetherton Syndrome
dc.subject.authorkeywordsPhenotype
dc.subject.authorkeywordsSerine Peptidase Inhibitor Kazal-type 5
dc.subject.indexkeywordsamino acid
dc.subject.indexkeywordsammonia
dc.subject.indexkeywordsampicillin
dc.subject.indexkeywordsantibiotic agent
dc.subject.indexkeywordsC reactive protein
dc.subject.indexkeywordscarboxylic acid
dc.subject.indexkeywordscefotaxime
dc.subject.indexkeywordschloride
dc.subject.indexkeywordscorticosteroid
dc.subject.indexkeywordscreatinine
dc.subject.indexkeywordsemollient agent
dc.subject.indexkeywordsglucose plus sodium chloride
dc.subject.indexkeywordsglycerol
dc.subject.indexkeywordsimmunoglobulin
dc.subject.indexkeywordslactic acid
dc.subject.indexkeywordslong chain fatty acid
dc.subject.indexkeywordsmeasles mumps rubella vaccine
dc.subject.indexkeywordsnicotinamide
dc.subject.indexkeywordspetrolatum
dc.subject.indexkeywordspotassium
dc.subject.indexkeywordsserine peptidase inhibitor Kazal type 5
dc.subject.indexkeywordsuric acid
dc.subject.indexkeywordsSPINK5 protein, human
dc.subject.indexkeywordsacute kidney failure
dc.subject.indexkeywordsartificial milk
dc.subject.indexkeywordsatopic dermatitis
dc.subject.indexkeywordsblood culture
dc.subject.indexkeywordsbody weight loss
dc.subject.indexkeywordsbreast milk
dc.subject.indexkeywordsbutter
dc.subject.indexkeywordscase report
dc.subject.indexkeywordsclinical article
dc.subject.indexkeywordsdehydration
dc.subject.indexkeywordseczema
dc.subject.indexkeywordsedema
dc.subject.indexkeywordsendoscopy
dc.subject.indexkeywordsenteric feeding
dc.subject.indexkeywordserythema
dc.subject.indexkeywordsFLG gene
dc.subject.indexkeywordsfollow up
dc.subject.indexkeywordsfood allergy
dc.subject.indexkeywordsgene deletion
dc.subject.indexkeywordsgene mutation
dc.subject.indexkeywordsgrowth hormone deficiency
dc.subject.indexkeywordshuman
dc.subject.indexkeywordshypernatremia
dc.subject.indexkeywordsichthyosis vulgaris
dc.subject.indexkeywordsinfant
dc.subject.indexkeywordsleukocytosis
dc.subject.indexkeywordsNetherton disease
dc.subject.indexkeywordsNote
dc.subject.indexkeywordsnuclear magnetic resonance imaging
dc.subject.indexkeywordspH
dc.subject.indexkeywordsrestlessness
dc.subject.indexkeywordssepsis
dc.subject.indexkeywordsserpiginous erythematous plaque
dc.subject.indexkeywordsskin exfoliation
dc.subject.indexkeywordsSPINK5 gene
dc.subject.indexkeywordsthyroid function test
dc.subject.indexkeywordsTriticum aestivum
dc.subject.indexkeywordsurea nitrogen blood level
dc.subject.indexkeywordsurine culture
dc.subject.indexkeywordsurine osmolality
dc.subject.indexkeywordsvomiting
dc.subject.indexkeywordswheat bran
dc.subject.indexkeywordswhole exome sequencing
dc.subject.indexkeywordsgenetics
dc.subject.indexkeywordsmutation
dc.subject.indexkeywordsphenotype
dc.subject.indexkeywordsGene Deletion
dc.subject.indexkeywordsHumans
dc.subject.indexkeywordsInfant
dc.subject.indexkeywordsMutation
dc.subject.indexkeywordsNetherton Syndrome
dc.subject.indexkeywordsPhenotype
dc.subject.indexkeywordsSerine Peptidase Inhibitor Kazal-Type 5
dc.titleSPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome
dc.typeNote
dcterms.referencesHannula-Jouppi, Katariina Sara Eriikka, IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome, Journal of Allergy and Clinical Immunology, 134, 4, pp. 985-988, (2014), Stuvel, Kira, Comel-Netherton syndrome: A local skin barrier defect in the absence of an underlying systemic immunodeficiency, Allergy: European Journal of Allergy and Clinical Immunology, 75, 7, pp. 1710-1720, (2020), Komatsu, Nahoko, Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients, Journal of Investigative Dermatology, 128, 5, pp. 1148-1159, (2008), Drislane, Catherine, The role of filaggrin in atopic dermatitis and allergic disease, Annals of Allergy, Asthma and Immunology, 124, 1, pp. 36-43, (2020), Barbati, Federica, Netherton Syndrome in Children: Management and Future Perspectives, Frontiers in Pediatrics, 9, (2021)
dspace.entity.typePublication
local.indexed.atScopus
person.identifier.scopus-author-id7801380299
person.identifier.scopus-author-id57203208966
person.identifier.scopus-author-id35388323500
person.identifier.scopus-author-id57211950279
person.identifier.scopus-author-id6602802424

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