{"id":27149,"date":"2024-05-26T14:29:41","date_gmt":"2024-05-26T12:29:41","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27149"},"modified":"2025-08-26T12:42:52","modified_gmt":"2025-08-26T10:42:52","slug":"pax5-deficiency","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/pax5-deficiency\/","title":{"rendered":"PAX5 Deficiency"},"content":{"rendered":"

PAX5 Deficiency \u2013\u00a0Definition<\/h2><\/div>
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PAX5 deficiency or a predisposition to ALL 3 (OMIM #615545) is a genetic disease caused by pathogenic variants in the PAX5<\/em> gene. Those suffering from it have an increased risk of developing B-ALL. Other hematological diseases or solid tumors have not been described to date.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

Predisposition to ALL 3<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

PAX5<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

PAX5 (paired box protein 5)<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Transcription factor that regulates the differentiation of B cells<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation<\/p>\n<\/div><\/div><\/div>

The p.G183S missense mutation has so far been found in all known leukemia patients who are carriers of a pathogenic PAX5<\/em> variant. However, there is also proof that the missense mutation is present in phenotypically healthy people with a pathogenic PAX5<\/em> variant. There is reduced transcriptional activity which points to a partial loss-of-function.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

Incomplete<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>