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Items: 3

1.

Immunodeficiency, common variable, 3

MedGen UID:
462088
Concept ID:
C3150738
Disease or Syndrome
2.

Immunodeficiency, common variable, 7

MedGen UID:
762276
Concept ID:
C3542922
Disease or Syndrome
3.

Immunodeficiency 62

Immunodeficiency-62 (IMD62) is an autosomal recessive primary immunologic disorder clinically characterized by onset of recurrent upper and lower respiratory infections late in the first decade of life. Patients may also have increased viral susceptibility to varicella zoster virus (VZV) or herpes simplex virus (HSV). Laboratory studies show impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies. There is also evidence of secondary T-cell dysfunction. The disorder may result from disturbed actin cytoskeleton dynamics causing impaired lymphocyte migration (summary by Bouafia et al., 2019). [from OMIM]

MedGen UID:
1673905
Concept ID:
C5193109
Disease or Syndrome
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