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GTR Home > Conditions/Phenotypes > Agammaglobulinemia 10, autosomal dominant

Agammaglobulinemia 10, autosomal dominant

Synonyms
AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT

Summary

Autosomal dominant agammaglobulinemia-10 (AGM10) is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported (summary by Le Coz et al., 2021). For a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 (601495). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AGM10, OF, PU.1, SFPI1, SPI-1, SPI-A, SPI1
    Summary: Spi-1 proto-oncogene

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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