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GTR Home > Conditions/Phenotypes > Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

Summary

Immunodeficiency-99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) is an autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment (Kuhny et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C20orf33, IMD99, NAP, P14L, PP8304, dJ633O20.1, CTNNBL1
    Summary: catenin beta like 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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