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Items: 5

1.

Inflammatory bowel disease, immunodeficiency, and encephalopathy

A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. [from ORDO]

MedGen UID:
1648434
Concept ID:
C4748708
Disease or Syndrome
2.

Candidiasis, familial, 9

Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene. [from MONDO]

MedGen UID:
906897
Concept ID:
C4225324
Disease or Syndrome
3.

Immunodeficiency 14b, autosomal recessive

Autosomal recessive primary immunodeficiency-14B (IMD14B) is characterized by onset of recurrent infections in early childhood. Most patients have respiratory infections, but some may develop inflammatory bowel disease or osteomyelitis. Laboratory studies tend to show hypogammaglobulinemia and decreased levels of B cells. Although NK cell and T cell numbers are normal, there may be evidence of impaired immune-mediated cytotoxicity and defective T-cell function (summary by et al., 2018 and et al., 2019). [from OMIM]

MedGen UID:
1787468
Concept ID:
C5543301
Disease or Syndrome
4.

Immunodeficiency 115 with autoinflammation

Immunodeficiency-115 with autoinflammation (IMD115) is an autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Affected individuals have immunodeficiency with recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. Some patients may have more systemic involvement, such as myopathy, gastrointestinal abnormalities, and anemia. Laboratory studies show variable B-cell and T-cell defects, sometimes with defective antibody responses and hypogammaglobulinemia (Boisson et al., 2015; Oda et al., 2019). [from OMIM]

MedGen UID:
1847791
Concept ID:
C5882724
Disease or Syndrome
5.

Esophageal candidiasis

Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. [from HPO]

MedGen UID:
66784
Concept ID:
C0239295
Disease or Syndrome
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