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Cd3e
No data
Diseases
Severe Combined Immunodeficiency
severe combined immunodeficiency
- Entity Type
- Diseases
- Relation Groups
- 2
- Relation Preview
- 16
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Severe Combined Immunodeficiency
- Standard Disease Name
- severe combined immunodeficiency
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D016511
- OMIM ID
- MTHU009056
- UMLS ID
- C0085110
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NICHD_1602D:X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004|NCI2016_NCI-GLOSS_1602D:A rare, inherited disease that is marked by a lack of B lymphocytes (white blood cells that make antibodies and help fight infections) and a lack of T lymphocytes (white blood cells that attack virus-infected cells, foreign cells, and cancer cells). Patients with this disease have a high risk of developing viral, bacterial, and fungal infections.|NCI2016_02D:X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004|MSH2017_2016_08_12:Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).|LNC256:Severe combined immunodeficiency (SCID) is an inherited disorder of the immune system resulting from a defect in both T and B lymphocytes. Beginning in the first few months of life, affected individuals are prone to recurrent and persistent infections caused by opportunistic bacteria, viruses, and fungi. These infections are often serious or life-threatening. Researchers have described several different types of severe combined immunodeficiency, which are caused by mutations in multiple genes.|HPO2016_07_04:Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems. [HPO:curators]|CSP2006:group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels; it is inherited as an X-linked or autosomal recessive defect; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase.
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