Hyper-IgM syndrome type 5
id:
hyper-igm-syndrome-type-5-197-13492906
title:
Hyper-IgM syndrome type 5
text:
The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact. These three patients instead had mutations in the catalytic domain of uracil-DNA glycosylase, an enzyme that removes uracil from DNA. In hyper-IgM syndromes, patients are deficient in the immunoglobulins, IgG, IgE and IgA types since the antibody producing B cells can not carry out the gene recombination steps ne
brand slug:
wiki
category slug:
encyclopedia
description:
Primary immune deficiency disorder
original url:
https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_5
date created:
date modified:
2023-11-08T18:48:09Z
main entity:
{"identifier":"Q5957527","url":"https://www.wikidata.org/entity/Q5957527"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/7/77/IgM_scheme.svg","width":400,"height":384}
fields total:
13
integrity:
15