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Journals / Astım Allerji İmmünoloji / 2014 / Cilt: 12 - Sayı: 2

The known genetic defects in common variable immunodeficiency

Yaygın değişken immünyetmezliklerde bilinen genetik defektler

REYHAN KARA
Bahar GÖKTÜRK
Aynur ACAR
Pages
59–69
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data:Recently, it is understood that various monogenic defects determine the variability in phenotype and have roles in the immunopathogenesis of CVID.
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Conclusion & Impact: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.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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.

Özet

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.

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Cite This Article

KARA, R., GÖKTÜRK, B., ACAR, A. (2014). The known genetic defects in common variable immunodeficiency. Astım Allerji İmmünoloji, Cilt: 12 - Sayı: 2, 59–69. https://ajindex.com/articles/151927

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