Genetics of hypogammaglobulinemia: what do we really know?
In the past, immunodeficiencies were categorized based on clinical and laboratory findings in the affected patient. Now we are more likely to define them based on the specific gene involved. One might expect this shift to increase the precision and clarity of diagnosis but in the last few years it has become increasingly clear that identification of a mutation in a specific gene may not tell the whole story. Some gene defects may reliably result in clinical disease, others may act as susceptibility factors that are more common in patients with immunodeficiency but can also be found in otherwise healthy individuals. Distinguishing between these two types of gene defects is essential for informative genetic counseling.
Conley
Mary Ellen
ME
Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA. maryellen.conley@stjude.org
D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D001402:B-Lymphocytes / Q000378:metabolism / Q000473:pathology; D003937:Diagnosis, Differential; D005817:Genetic Counseling / Q000592:standards; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase