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Items: 4

1.

IMMUNODEFICENCY 31C

MedGen UID:
865110
Concept ID:
C4016673
Finding
2.

IMMUNODEFICIENCY 31A

MedGen UID:
862387
Concept ID:
C4013950
Disease or Syndrome
3.

Immunodeficiency 31C

Immunodeficiency-31C is an autosomal dominant disorder of immunologic dysregulation with highly variable manifestations. Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013). [from OMIM]

MedGen UID:
481620
Concept ID:
C3279990
Disease or Syndrome
4.

Mycobacterial and viral infections, susceptibility to, autosomal recessive

MedGen UID:
462438
Concept ID:
C3151088
Disease or Syndrome; Finding
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