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- LIG4_syndrome 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).".
- LIG4_syndrome omim "606593".
- LIG4_syndrome wikiPageID "28583751".
- LIG4_syndrome wikiPageLength "2768".
- LIG4_syndrome wikiPageOutDegree "22".
- LIG4_syndrome wikiPageRevisionID "579789769".
- LIG4_syndrome wikiPageWikiLink Antibody.
- LIG4_syndrome wikiPageWikiLink B-cell_receptor.
- LIG4_syndrome wikiPageWikiLink Category:Noninfectious_immunodeficiency-related_cutaneous_conditions.
- LIG4_syndrome wikiPageWikiLink Delayed_milestone.
- LIG4_syndrome wikiPageWikiLink Diabetes_mellitus_type_2.
- LIG4_syndrome wikiPageWikiLink Hypothyroidism.
- LIG4_syndrome wikiPageWikiLink LIG4.
- LIG4_syndrome wikiPageWikiLink List_of_cutaneous_conditions.
- LIG4_syndrome wikiPageWikiLink Microcephaly.
- LIG4_syndrome wikiPageWikiLink Multiple_myeloma.
- LIG4_syndrome wikiPageWikiLink Nijmegen_breakage_syndrome.
- LIG4_syndrome wikiPageWikiLink Pancytopenia.
- LIG4_syndrome wikiPageWikiLink Photosensitivity_in_humans.
- LIG4_syndrome wikiPageWikiLink Psoriasis.
- LIG4_syndrome wikiPageWikiLink Respiratory_tract_infection.
- LIG4_syndrome wikiPageWikiLink Seckel_syndrome.
- LIG4_syndrome wikiPageWikiLink Severe_combined_immunodeficiency.
- LIG4_syndrome wikiPageWikiLink T-cell_leukemia.
- LIG4_syndrome wikiPageWikiLink T_cell_receptor.
- LIG4_syndrome wikiPageWikiLink Telangiectasia.
- LIG4_syndrome wikiPageWikiLink V(D)J_recombination.
- LIG4_syndrome wikiPageWikiLinkText "LIG4 syndrome".
- LIG4_syndrome name "LIG4 syndrome".
- LIG4_syndrome omim "606593".
- LIG4_syndrome wikiPageUsesTemplate Template:Dermatology-stub.
- LIG4_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- LIG4_syndrome wikiPageUsesTemplate Template:Reflist.
- LIG4_syndrome subject Category:Noninfectious_immunodeficiency-related_cutaneous_conditions.
- LIG4_syndrome type Disease.
- LIG4_syndrome type Thing.
- LIG4_syndrome type Q12136.
- LIG4_syndrome 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.".
- LIG4_syndrome label "LIG4 syndrome".
- LIG4_syndrome sameAs Q6458655.
- LIG4_syndrome sameAs m.0cz9s8n.
- LIG4_syndrome sameAs Q6458655.
- LIG4_syndrome wasDerivedFrom LIG4_syndrome?oldid=579789769.
- LIG4_syndrome isPrimaryTopicOf LIG4_syndrome.
- LIG4_syndrome name "LIG4 syndrome".