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In [[medicine]], '''Hyper IgM Syndrome Type 2''' is a [[rare disease]]. |
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⚫ | Unlike other [[hyper-IgM syndromes]], the Type 2 patients |
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⚫ | 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 <ref>[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=11007475 |
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Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)], Cell. 2000 Sep 1;102(5):565-75.</ref>: |
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* the absence of immunoglobulin class switch recombination |
* the absence of immunoglobulin class switch recombination |
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* lymph node hyperplasia caused by the presence of giant germinal centers. |
* lymph node hyperplasia caused by the presence of giant germinal centers. |
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==References== |
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<references /> |
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Revision as of 23:20, 10 September 2006
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 [1]:
- 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.
References
- ^ [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=11007475 Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)], Cell. 2000 Sep 1;102(5):565-75.