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

Autor: Royala Babayeva, Cedric Mongellaz, Ibrahim Serhat Karakus, Murat Cansever, Sevgi Bilgic Eltan, Mehmet Cihangir Catak, Alper Bulutoglu, Yasemin Kendir Demirkol, Metin Eser, Elif Karakoc‐Aydiner, Ahmet Ozen, Valérie S. Zimmermann, Naomi Taylor, Safa Baris
Přispěvatelé: Babayeva 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.
Rok vydání: 2022
Předmět:
Zdroj: Pediatric Allergy and Immunology. 33
ISSN: 1399-3038
0905-6157
Popis: Patients 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
Databáze: OpenAIRE
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