Publication: A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8(+) T cells
Loading...
Files
Date
2022-03-01
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
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
Description
Keywords
Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Yaşam Bilimleri, Temel Bilimler, Medicine, Health Sciences, Internal Medicine Sciences, Child Health and Diseases, Life Sciences, Natural Sciences, ALERJİ, Klinik Tıp, Klinik Tıp (MED), İmmünoloji, Yaşam Bilimleri (LIFE), PEDİATRİ, ALLERGY, CLINICAL MEDICINE, Clinical Medicine (MED), IMMUNOLOGY, Life Sciences (LIFE), PEDIATRICS, General Immunology and Microbiology, Immunology, Pediatrics, Pediatrics, Perinatology and Child Health, Immunology and Allergy, dermatitis, inborn errors of immunity, transplantation, ZAP70, IMMUNODEFICIENCY
Citation
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., "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