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- Q6458655 subject Q8681618.
- Q6458655 abstract "LIG4 syndrome (also known as Ligase IV syndrome) is an extremely rare condition caused by mutations in the DNA Ligase IV (LIG4) gene. Some mutations in this gene are associated with a resistance against multiple myeloma and Severe Combined Immunodeficiency. Severity of symptoms depends on the degree of reduced enzymatic activity of Ligase IV or gene expression.As DNA ligase IV is essential in V(D)J recombination, the mechanism by which immunoglobulins, B cell and T cell receptors are formed, patients with LIG4 syndrome may suffer from less effective or defective V(D)J recombination. Some patients have a severe immunodeficiency characterized by pancytopenia, causing chronic respiratory infections and sinusitis. Clinical features also include Seckel syndrome-like facial abnormalities and microcephaly. Patients also suffer from growth retardation and skin conditions, including photosensitivity, psoriasis and telangiectasia. Although not present in all, patients may also present with hypothyroidism and type II diabetes and possibly malignancies such as acute T-cell leukemia. The clinical phenotype of LIG4 syndrome closely resembles that of Nijmegen breakage syndrome (NBS).".
- Q6458655 omim "606593".
- Q6458655 wikiPageWikiLink Q1093098.
- Q6458655 wikiPageWikiLink Q1100474.
- Q6458655 wikiPageWikiLink Q1250362.
- Q6458655 wikiPageWikiLink Q1334408.
- Q6458655 wikiPageWikiLink Q1634800.
- Q6458655 wikiPageWikiLink Q16501.
- Q6458655 wikiPageWikiLink Q1757427.
- Q6458655 wikiPageWikiLink Q179945.
- Q6458655 wikiPageWikiLink Q18028560.
- Q6458655 wikiPageWikiLink Q246809.
- Q6458655 wikiPageWikiLink Q2944236.
- Q6458655 wikiPageWikiLink Q3025883.
- Q6458655 wikiPageWikiLink Q412037.
- Q6458655 wikiPageWikiLink Q431643.
- Q6458655 wikiPageWikiLink Q467635.
- Q6458655 wikiPageWikiLink Q5253500.
- Q6458655 wikiPageWikiLink Q572169.
- Q6458655 wikiPageWikiLink Q754447.
- Q6458655 wikiPageWikiLink Q7667895.
- Q6458655 wikiPageWikiLink Q79460.
- Q6458655 wikiPageWikiLink Q8681618.
- Q6458655 name "LIG4 syndrome".
- Q6458655 omim "606593".
- Q6458655 type Disease.
- Q6458655 type Thing.
- Q6458655 type Q12136.
- Q6458655 comment "LIG4 syndrome (also known as Ligase IV syndrome) is an extremely rare condition caused by mutations in the DNA Ligase IV (LIG4) gene. Some mutations in this gene are associated with a resistance against multiple myeloma and Severe Combined Immunodeficiency.".
- Q6458655 label "LIG4 syndrome".
- Q6458655 name "LIG4 syndrome".