Immunodeficiency 36- MedGen UID:
- 863371
- •Concept ID:
- C4014934
- •
- Disease or Syndrome
Immunodeficiency-36 with lymphoproliferation (IMD36) is an autosomal dominant primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).
Immunodeficiency 49- MedGen UID:
- 934623
- •Concept ID:
- C4310656
- •
- Disease or Syndrome
Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.
Immunodeficiency 102- MedGen UID:
- 1812534
- •Concept ID:
- C5676886
- •
- Disease or Syndrome
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).