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 so-called 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.
Original language | English (US) |
---|---|
Article number | 64 |
Journal | Current Allergy and Asthma Reports |
Volume | 20 |
Issue number | 11 |
DOIs | |
State | Published - Nov 1 2020 |
Keywords
- APDS
- Antibody deficiency
- B cell disorders
- BLK
- CTLA-4
- Good syndrome
- Hyper IgM syndrome
- IgG subclass deficiency
- Kabuki syndrome
- Selective IgA deficiency
- Specific antibody deficiency
- TWEAK
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology
- Pulmonary and Respiratory Medicine