Monogenic mutations associated with 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.
a Division of Clinical Immunology, Department of Laboratory Medicine , Karolinska Institutet at Karolinska University Hospital Huddinge , Stockholm , Sweden.|b Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran University of Medical Sciences , Tehran , Iran.
Hassan
H
Abolhassani
b Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran University of Medical Sciences , Tehran , Iran.
Asghar
A
Aghamohammadi
a Division of Clinical Immunology, Department of Laboratory Medicine , Karolinska Institutet at Karolinska University Hospital Huddinge , Stockholm , Sweden.
Lennart
L
Hammarström
D000818:Animals; D002869:Chromosome Aberrations; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D007070:Immunoglobulin A / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
D006680:HLA Antigens; D007070:Immunoglobulin A
Immunoglobulin A deficiency; familial cases; genetic analysis; monogenic disorders; phenotype