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1.

Immunodeficiency 39

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene. [from MONDO]

MedGen UID:
904167
Concept ID:
C4225358
Disease or Syndrome
2.

Immunodeficiency 102

Immunodeficiency-102 (IMD102) is an X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation (Delmonte et al., 2021). [from OMIM]

MedGen UID:
1812534
Concept ID:
C5676886
Disease or Syndrome

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