AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency

For twenty years, two paradigms have been considered as the main genetic contributors to immunoglobulin A deficiency, including cytogenetic defects involving large chromosomal aberrations and an association with the human major histocompatibility complex (MHC) locus. However, an overview of recent studies suggests a role for several monogenic disorders in the development of this disease. Areas covered: This review examines the concept of monogenic disorders for patients with IgA deficiency in order to identify the underlying pathogenic mechanism(s). Expert commentary: A clinical/immunologic workup followed by targeted gene mutation analysis has been proposed for an approach to IgA deficient patients.

show abstract

Monogenic mutations associated with IgA deficiency

Abolhassani

Aghamohammadi

Hammarström

2016

Expert Review of Clinical Immunology

View full text Add to dashboard Cite

show abstract

Clinical phenotype classification for selective immunoglobulin A deficiency

Yazdani

Latif

Tabassomi

et al. 2015

Expert Review of Clinical Immunology

View full text Add to dashboard Cite

Selective immunoglobulin A deficiency (SIgAD) is the most common predominantly antibody deficiency, with a wide range of presentations from asymptomatic to severe manifestations. Although many studies have investigated different aspects of SIgAD, no study has yet presented a comprehensive classification of this disease. Based on clinical manifestation of patients and various immune abnormalities associated with SIgAD, this group of patients could be classified into five different phenotypes including asymptomatic, minor infectious, allergic, autoimmune and severe phenotypes. This classification aids physicians in identifying patients and in choosing appropriate management and treatment as well as homogenized groups for molecular and genetic studies.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency

Abstract: There was no significant association between the previously reported genetic variant of AICDA gene and the development of CVID or IgAD, but further multi-center studies are also needed.

Cited by 2 publications

References 39 publications

Monogenic mutations associated with IgA deficiency

Monogenic mutations associated with IgA deficiency

Clinical phenotype classification for selective immunoglobulin A deficiency

Contact Info

Product

Resources

About