Yaygın değişken immünyetmezliklerde bilinen genetik defektler

ACAR, Aynur; KARA, REYHAN; Göktürk, Bahar

Yaygın değişken immünyetmezliklerde bilinen genetik defektler

Reyhan KARA, (Selçuk Üniversitesi İleri Teknoloji Araştırma ve Uygulama Merkezi, Biyoteknoloji Laboratuvarı, Konya, Türkiye)

Bahar GÖKTÜRK, (Konya Eğitim ve Araştırma Hastanesi, Çocuk Allerji ve İmmünoloji Bilim Dalı, Konya, Türkiye)

Aynur ACAR (Necmettin Erbakan Üniversitesi Meram Tıp Fakültesi, Tıbbi Genetik Bilim Dalı, Konya, Türkiye)

Astım Allerji İmmünoloji

5 0

Yıl: 2014 Cilt: 12 Sayı: 2 Sayfa Aralığı: 59 - 69 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Yaygın değişken immünyetmezliklerde bilinen genetik defektler

Öz:

Yaygın değişken immünyetmezlik (YDİY), immünyetmezlik hastalıklarının nispeten sık görülen bir şekli olup, immünglobulin üretiminde eksiklik ve primer antikor yetmezliği ile giden heterojen bir hastalık grubudur. Son yıllarda, tanımlanan çeşitli monogenik defektlerin YDİY'in klinik ve laboratuvar bulgularındaki değişkenliği belirlediği ve immünopatogenezinde rol oynadığı anlaşılmıştır. Bu derlemede, YDİY ile ilişkili olan ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor) molekül defektleri ve bunların genetik temellerinin gözden geçirilmesi amaçlanmıştır.

Anahtar Kelime:

Konular: İmmünoloji

The known genetic defects in common variable immunodeficiency

Öz:

Common variable immunodeficiency (CVID) is a relatively common form of immunodeficiency disorders which constitutes a mixed group of heterogeneous conditions linked by lack of immune globulin production and primary antibody failure. Recently, it is understood that various monogenic defects determine the variability in phenotype and have roles in the immunopathogenesis of CVID. In this review, the molecular defects related to CVID which are ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor), and their genetic basis were aimed to be reviewed.

Anahtar Kelime:

Konular: İmmünoloji

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık

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APA	KARA R, Göktürk B, ACAR A (2014). Yaygın değişken immünyetmezliklerde bilinen genetik defektler. , 59 - 69.
Chicago	KARA REYHAN,Göktürk Bahar,ACAR Aynur Yaygın değişken immünyetmezliklerde bilinen genetik defektler. (2014): 59 - 69.
MLA	KARA REYHAN,Göktürk Bahar,ACAR Aynur Yaygın değişken immünyetmezliklerde bilinen genetik defektler. , 2014, ss.59 - 69.
AMA	KARA R,Göktürk B,ACAR A Yaygın değişken immünyetmezliklerde bilinen genetik defektler. . 2014; 59 - 69.
Vancouver	KARA R,Göktürk B,ACAR A Yaygın değişken immünyetmezliklerde bilinen genetik defektler. . 2014; 59 - 69.
IEEE	KARA R,Göktürk B,ACAR A "Yaygın değişken immünyetmezliklerde bilinen genetik defektler." , ss.59 - 69, 2014.
ISNAD	KARA, REYHAN vd. "Yaygın değişken immünyetmezliklerde bilinen genetik defektler". (2014), 59-69.

APA	KARA R, Göktürk B, ACAR A (2014). Yaygın değişken immünyetmezliklerde bilinen genetik defektler. Astım Allerji İmmünoloji, 12(2), 59 - 69.
Chicago	KARA REYHAN,Göktürk Bahar,ACAR Aynur Yaygın değişken immünyetmezliklerde bilinen genetik defektler. Astım Allerji İmmünoloji 12, no.2 (2014): 59 - 69.
MLA	KARA REYHAN,Göktürk Bahar,ACAR Aynur Yaygın değişken immünyetmezliklerde bilinen genetik defektler. Astım Allerji İmmünoloji, vol.12, no.2, 2014, ss.59 - 69.
AMA	KARA R,Göktürk B,ACAR A Yaygın değişken immünyetmezliklerde bilinen genetik defektler. Astım Allerji İmmünoloji. 2014; 12(2): 59 - 69.
Vancouver	KARA R,Göktürk B,ACAR A Yaygın değişken immünyetmezliklerde bilinen genetik defektler. Astım Allerji İmmünoloji. 2014; 12(2): 59 - 69.
IEEE	KARA R,Göktürk B,ACAR A "Yaygın değişken immünyetmezliklerde bilinen genetik defektler." Astım Allerji İmmünoloji, 12, ss.59 - 69, 2014.
ISNAD	KARA, REYHAN vd. "Yaygın değişken immünyetmezliklerde bilinen genetik defektler". Astım Allerji İmmünoloji 12/2 (2014), 59-69.