Leukocyte Adhesion Deficiency Type 1

Preferred Label : Leukocyte Adhesion Deficiency Type 1;

NCIt synonyms : LFA-I Deficiency; LAD-Type I; LAD-1 Deficiency; LAD1; LFA1 Immunodeficiency; LAD-1;

NCIt definition : 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.;

Détails

Origin ID

C4689;

UMLS CUI

C0398738;

Automatic exact mappings (from CISMeF team)
- Ladinin 1 [OMIM gene]
Currated CISMeF NLP mapping
- Leukocyte adhesion deficiency - type 1 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type 1 [ICD-11 More detail]
- Leukocyte adhesion deficiency type 1 [MeSH concept]
- Leukocyte adhesion deficiency type I [ORDO Disease]
- Leukocyte adhesion deficiency type I [MedDRA Preferred Term]
- Leukocyte adhesion deficiency, type I [OMIM Phenotype]
- leukocyte adhesion deficiency 1 [DO Concept]
- leukocyte adhesion deficiency type 1 [Disease (Nov.)]
- leukocyte adhesion deficiency type 1 [MeSH Supplementary Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukocyte adhesion deficiency - type 1 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type 1 [MeSH concept]
- Leukocyte adhesion deficiency type 1 [ICD-11 More detail]
- Leukocyte adhesion deficiency type I [ORDO Disease]
- Leukocyte adhesion deficiency type I [MedDRA Preferred Term]
- Leukocyte adhesion deficiency type I [MedDRA LLT]
- Leukocyte adhesion deficiency, type I [OMIM Phenotype]
- leukocyte adhesion deficiency 1 [DO Concept]
- leukocyte adhesion deficiency type 1 [MeSH Supplementary Concept]
- leukocyte adhesion deficiency type 1 [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Integrin Alpha-M [NCIt concept]
- Integrin Alpha-X [NCIt concept]
- Integrin Beta-2 [NCIt concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_associated_gene
- ITGAM Gene [NCIt concept]
- ITGAM wt Allele [NCIt concept]
- ITGAX Gene [NCIt concept]
- ITGAX wt Allele [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
- Immune System [NCIt concept]
disease_mapped_to_gene
- ITGB2 Gene [NCIt concept]
related_to_genetic_biomarker
- ITGB2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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