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GTR Home > Conditions/Phenotypes > Agammaglobulinemia 9, autosomal recessive

Agammaglobulinemia 9, autosomal recessive

Synonyms
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO SLC39A7 DEFECT

Summary

Agammaglobulinemia-9 (AGM9) is an autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy (summary by Anzilotti et al., 2019). 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: AGM9, D6S115E, D6S2244E, H2-KE4, HKE4, KE4, RING5, ZIP7, SLC39A7
    Summary: solute carrier family 39 member 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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