Browsing by Author "Fırtına, Sinem"

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Biallelic form of a known CD3E mutation in a patient with severe combined immunodeficiency

Erman, Baran; Fırtına, Sinem; Fışgın, Tunç; Bozkurt, Ceyhun; Erol Cipe, Funda (Springer/Plenum Publishers, 2020)

T cell receptor (TCR) complex consists of αβ or γδ TCR chains in combination with four CD3 subunits, CD3ε, CD3γ, CD3δ, and CDζ [1]. This complex is required for thymocyte development and the initiation of T cell-mediated ...
Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Şentürk, Gizem; Ng, Yuk Yin; Eltan, Sevgi Bilgiç; Başer, Dilek; Fırtına, Sinem (WILEY, 2022)

T cell receptor excision circles (TRECs) and kappa-deleting excision circles (KRECs) are DNA fragments potentially indicative of T and B cell development, respectively. Recent thymic emigrants (RTEs) are a subset of ...
Invasive saprochaete capitata Infection in a patient with autosomal recessive CARD9 deficiency and a review of the literature

Erman, Baran; Fırtına, Sinem; Aksoy, Başak Adaklı; Aydoğdu, Selime; Genç, Gonca Erköse; Doğan, Öner; Bozkurt, Ceyhun; Fışgın, Tunç; Erol Cipe, Funda (Springer/Plenum Publishers, 2020)

Purpose Autosomal recessive (AR) CARD9 deficiency is an inherited immune disorder which results in impaired innate immunity against various fungi. Superficial and invasive fungal infections, mainly caused by Candida or ...