About: Immunodeficiency With Hyper-IgM     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Immunodeficiency With Hyper-IgM
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Immunodeficiency With Hyper-IgM
NCI_META_CUI
  • CL412978
FULL_SYN
  • Immunodeficiency With Hyper-IgMPTNCI
DEFINITION
  • Immunodeficiency caused by mutations in the gene encoding the CD40 ligand. It is characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies.NCI
code
  • C84783
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