A rare disease: ZAP70 deficiency
NORTHERN CLINICS OF ISTANBUL, cilt.11, sa.2, ss.167-170, 2024 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 11 Sayı: 2
- Basım Tarihi: 2024
- Doi Numarası: 10.14744/nci.2022.89646
- Dergi Adı: NORTHERN CLINICS OF ISTANBUL
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Central & Eastern European Academic Source (CEEAS), Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.167-170
- Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır
Özet
Zeta associated protein (ZAP) 70 deficiency is a rare disease. ZAP70 deficiency results in an autosomal recessive form of severe combined immunodeficiency (SCID) that is characterized by a selective absence of CD8 T cells. The diagnosis should be suspected in patients presenting with a severe combined immunodeficiency phenotype and selective deficiency of CD8 T cells. Sequencing of the ZAP70 gene can confirm the diagnosis. We wanted to emphasize that immunodeficiencies should also be remembered in the differential diagnosis by presenting a 5-month-old patient who applied to our clinic with complaints of skin rash and cough, was given respiratory support with mechanical ventilation for a long time, and was diagnosed with ZAP70 deficiency.