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MedGen for PubMed (Select 22505456)

Items: 3

1.

Hypotrichosis-lymphedema-telangiectasia syndrome

Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003). [from OMIM]

MedGen UID:
375070
Concept ID:
C1843004
Disease or Syndrome
2.

HIV

An infection caused by the human immunodeficiency virus. [from NCI]

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome
3.

Immunodeficiency 30

IMD30 results from autosomal recessive IL12RB1 deficiency and is the most common form of susceptibility to mycobacterial disease. Activated T and natural killer lymphocytes from IMD30 patients do not express IL12RB1 on their surface or, more rarely, express nonfunctional IL12RB1 on their surface. IMD30 patients therefore lack responses to IL12 (see 161560) and IL23 (see 605580). The clinical presentation of IL12RB1-deficient patients is similar to that of IL12B-deficient patients (see IMD29, 614890). Bacillus Calmette-Guerin (BCG) disease and salmonellosis are the most frequent infections. Salmonellosis is present in about half of IL12RB1-deficient patients, and significant numbers of patients present with isolated salmonellosis. Severe tuberculosis has been reported in several unrelated patients, and other infections have been reported in single patients. IMD30 has low penetrance, and patients have relatively mild disease and good prognosis (review by Al-Muhsen and Casanova, 2008). [from OMIM]

MedGen UID:
807419
Concept ID:
CN219204
Disease or Syndrome
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