DiseaseID 26379
白细胞黏附缺陷症Ⅰ型
Leukocyte Adhesion Deficiency, Type I
NCI2016_02D:A rare immunodeficiency with an autosomal recessive pattern of inheritance. It is caused by mutation in the ITGB2 gene on chromosome 21 which codes for the beta subunit of beta-2 integrin (CD18). The mutation
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Disease: 1Formula: 12Symptom: 5Target: 16Links: 41
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26379
- Core Entity Id
- 118947
- Source Entity Count
- 1
- Preferred Name
- Leukocyte Adhesion Deficiency, Type I
- Name Cn
- 白细胞黏附缺陷症Ⅰ型
- Name Pinyin
- Bai Xi Bao Nian Fu Que Xian Zheng Ⅰ Xing
- Name En
- Leukocyte Adhesion Deficiency, Type I
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare immunodeficiency with an autosomal recessive pattern of inheritance. It is caused by mutation in the ITGB2 gene on chromosome 21 which codes for the beta subunit of beta-2 integrin (CD18). The mutation results in significantly reduced or absent expression of CD18 on the surface of leukocytes which impairs their ability to migrate and interact with antigens. Initial clinical signs include omphalitis and delayed separation of the umbilical cord. The clinical course is marked by recurrent bacterial and fungal infection without pus formation. In instances where there is < 1% expression of CD18, prognosis is dismal with a high likelihood for life-threatening infection within the first year of life.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Leukocyte Adhesion Deficiency, Type I
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0398738
Sym Map
SMDE03200
Etcm Disease
Leukocyte Adhesion Deficiency, Type I
Itcmdb Generated
ITX-DISEASE-AAF2903E4246
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Leukocyte Adhesion Deficiency, Type I Details page
Basic Information
Disease Name
Leukocyte Adhesion Deficiency, Type I
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Eye diseases;Immune diseases;Skin diseases
Disease Definition
NCI2016_02D:A rare immunodeficiency with an autosomal recessive pattern of inheritance. It is caused by mutation in the ITGB2 gene on chromosome 21 which codes for the beta subunit of beta-2 integrin (CD18). The mutation results in significantly reduced or absent expression of CD18 on the surface of leukocytes which impairs their ability to migrate and interact with antigens. Initial clinical signs include omphalitis and delayed separation of the umbilical cord. The clinical course is marked by recurrent bacterial and fungal infection without pus formation. In instances where there is < 1% expression of CD18, prognosis is dismal with a high likelihood for life-threatening infection within the first year of life.