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GTR Home > Conditions/Phenotypes > Pancytopenia due to IKZF1 mutations

Pancytopenia due to IKZF1 mutations

Synonyms
Immunodeficiency, common variable, 13
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Common variable immunodeficiency-13 (CVID13) is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1, PPP1R92, PRO0758, ZNFN1A1, IKZF1
    Summary: IKAROS family zinc finger 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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