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GTR Home > Conditions/Phenotypes > Immunodeficiency due to ficolin3 deficiency

Immunodeficiency due to ficolin3 deficiency

Synonyms
FCN3 DEFICIENCY; FICOLIN 3 DEFICIENCY; Immunodeficiency due to ficolin 3 deficiency; LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3

Summary

Individuals with ficolin-3 deficiency have highly variable manifestations and a variable age of symptom onset. Some patients may show increased susceptibility to infection in the perinatal or neonatal period, whereas others may show autoimmune features as adults. Ficolin-3, also known as H-ficolin, can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Munthe-Fog et al., 2009 and Michalski et al., 2015). For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (614372). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FCNH, HAKA1, FCN3
    Summary: ficolin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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