B Cell Disorders in Children: Part II
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PEDIATRIC ALLERGY AND IMMUNOLOGY (W DOLEN, SECTION EDITOR)
B Cell Disorders in Children: Part II Dixie D. Griffin 1 & William K. Dolen 1
# Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose of Review B cell disorders result in decreased levels or function of immunoglobulins in an individual. Genetic mutations have been reported in a variety of B cell disorders. This review, in follow-up to a previous review, describes some rare B cell disorders as well as their known underlying genetic etiologies. Recent Findings Genetic studies identify and permit precise classification of an increasing number of B cell disorders, leading to a greater understanding of B cell development and function. Summary The B cell disorders are rare diseases. While clinicians are most familiar with X-linked agammaglobulinemia and socalled common variable immunodeficiency (CVID), there are many causes of hypogammaglobulinemia. Genetic testing provides a specific diagnosis, offers useful information for genetic counseling, and can identify previously unrecognized B cell disorders. Keywords B cell disorders . Antibody deficiency . TWEAK . CTLA-4 . APDS . BLK . Kabuki syndrome . Hyper IgM syndrome . Good syndrome . Selective IgA deficiency . IgG subclass deficiency . Specific antibody deficiency
Introduction More than 300 primary immunodeficiency diseases (PID) have been reported in the literature. Most of these result from B cell dysfunction that impairs antibody production [1••]. The dominant effector function of B cells is to create antibodies. Functional antibodies in adequate quantity and appropriate affinity are quintessential for host defenses against pathologic microbial organisms. When there is a disruption in immunoglobulin production of function, a variety of diseases occur related to infection as well as autoimmune disorders, allergic disease, gastrointestinal disorders, and malignancy. Immunoglobulin production and function can be altered at various stages of B cell development and activation.
Many gene mutations hindering antibody production or function have been described, and more await discovery. A previous review described several B cell disorders with focus on X-linked agammaglobulinemia and the more commonly reported causes of common variable immunodeficiency (CVID) [2••], and this present review summarizes some of the more rare causes of CVID and other defects that cause PID related to immunoglobulin activity or deficiency. Being aware of presenting symptoms related to immunoglobulin abnormalities and the underlying etiology may lead to quicker diagnosis and treatment which may result in decreased morbidity and mortality.
TWEAK Mutation CVID This article is part of the Topical Collection on Pediatric Allergy and Immunology * William K. Dolen [email protected] Dixie D. Griffin [email protected] 1
Department of Pediatrics, Allergy-Immunology and Pediatric Rheumatology Division,, Medical College of Georgia at Augusta University, 1120 15th Street, Augusta, GA 30912, USA
TWEAK (tumor n
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