Hyper IgM Syndrome Type 2
Encyclopedia
In medicine
, Hyper IgM Syndrome Type 2 is a rare disease
.
Unlike other hyper-IgM syndromes, the Type 2 patients identified thus far did not present with a history of opportunistic infections. One would expect opportunistic infections in any immunodeficiency syndrome. The putative genetic lesion is in the AICDA
gene found at 12p13. The patients have three common findings :
Medicine
Medicine is the science and art of healing. It encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness....
, Hyper IgM Syndrome Type 2 is a rare disease
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
.
Unlike other hyper-IgM syndromes, the Type 2 patients identified thus far did not present with a history of opportunistic infections. One would expect opportunistic infections in any immunodeficiency syndrome. The putative genetic lesion is in the AICDA
AICDA
Activation-induced cytidine deaminase, also known as AICDA and AID, is an enzyme which in humans is encoded by the AICDA gene.- Function :This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family...
gene found at 12p13. The patients have three common findings :
- the absence of immunoglobulin class switch recombination
- the lack of immunoglobulin somatic hypermutations, and
- lymph node hyperplasia caused by the presence of giant germinal centers.