Publication:
A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8(+) T cells

Simple item page
dc.contributor.authorAYDINER, ELİF
dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorBARIŞ, SAFA
dc.contributor.authorsBabayeva R., Mongellaz C., Karakus I. S., Cansever M., Bilgic Eltan S., Catak M. C., Bulutoglu A., Kendir Demirkol Y., Eser M., Karakoc-Aydiner E., et al.
dc.date.accessioned2023-04-10T11:27:46Z
dc.date.available2023-04-10T11:27:46Z
dc.date.issued2022-03-01
dc.description.abstractPatients with deficiency of zeta-chain-associated protein kinase 70 (ZAP-70) protein generally present as combined immunodeficiency (CID) with severe recurrent infections and dermatological findings during the first years of life. They also suffer from diarrhea, mainly resulting from viral agents, lymphoproliferation, and autoimmunity (autoimmune cytopenia, bullous pemphigoid, nephrotic syndrome, and adrenal insufficiency). The most striking immunological findings are severely decreased CD3+CD8+ T-cell counts with decreased proliferation. The current definitive treatment of ZAP-70 deficiency is hematopoietic stem cell transplantation (HSCT).1 To date, 52 patients with biallelic mutations in the ZAP70 gene have been described in the literature.1,2 Herein, we report a patient with a novel missense mutation in the ZAP70 who presented with atypical skin lesions and a rapid decrease in CD8+ T-cell counts on immunological evaluations between 6 and 9 months of age. Despite undetectable ZAP-70 protein, the patient did not present severe infections in the first year of life. This description expands the spectrum of disease caused by mutations in the
dc.identifier.citationBabayeva R., Mongellaz C., Karakus I. S., Cansever M., Bilgic Eltan S., Catak M. C., Bulutoglu A., Kendir Demirkol Y., Eser M., Karakoc-Aydiner E., et al., "A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8(+) T cells", PEDIATRIC ALLERGY AND IMMUNOLOGY, cilt.33, sa.3, 2022
dc.identifier.doi10.1111/pai.13756
dc.identifier.issn0905-6157
dc.identifier.issue3
dc.identifier.urihttps://hdl.handle.net/11424/288546
dc.identifier.volume33
dc.language.isoeng
dc.relation.ispartofPEDIATRIC ALLERGY AND IMMUNOLOGY
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectMedicine
dc.subjectHealth Sciences
dc.subjectInternal Medicine Sciences
dc.subjectChild Health and Diseases
dc.subjectLife Sciences
dc.subjectNatural Sciences
dc.subjectALERJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectİmmünoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectPEDİATRİ
dc.subjectALLERGY
dc.subjectCLINICAL MEDICINE
dc.subjectClinical Medicine (MED)
dc.subjectIMMUNOLOGY
dc.subjectLife Sciences (LIFE)
dc.subjectPEDIATRICS
dc.subjectGeneral Immunology and Microbiology
dc.subjectImmunology
dc.subjectPediatrics
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectImmunology and Allergy
dc.subjectdermatitis
dc.subjectinborn errors of immunity
dc.subjecttransplantation
dc.subjectZAP70
dc.subjectIMMUNODEFICIENCY
dc.titleA boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8(+) T cells
dc.typearticle
dspace.entity.typePublication
local.avesis.idc74ee3fd-68d3-4c6a-ba31-ff138bdad971
local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atSCOPUS
relation.isAuthorOfPublication787c2629-584b-4b3e-9850-bf85838f2973
relation.isAuthorOfPublication3e9c297b-e636-4836-8f61-dc9c8b7c29cf
relation.isAuthorOfPublication5b392475-f11d-44b3-b251-4fe8e6b7dbb9
relation.isAuthorOfPublication.latestForDiscovery787c2629-584b-4b3e-9850-bf85838f2973

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
file.pdf
Size:
416.36 KB
Format:
Adobe Portable Document Format
Download

Collections

Research Outputs