Leukocyte adhesion deficiency, type I

Preferred Label : Leukocyte adhesion deficiency, type I;

Symbol : LAD1;

CISMeF acronym : LAD; LAD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LAD; Lfa1 immunodeficiency; Lymphocyte function-associated antigen 1 immunodeficiency; Leukocyte adhesion deficiency;

Description : Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the beta-2 integrin gene (ITGB2, 600065.0001);

Laboratory abnormalities : Low levels of CD11/CD18 (LFA-1 or leukocyte function antigen-1) glycoprotein;

Prefixed ID : #116920;

Details

Origin ID

116920;

UMLS CUI

C0398738;

Automatic exact mappings (from CISMeF team)
- Anterior interventricular branch of left coronary artery [FMA entity]
- Entire anterior descending branch of left coronary artery (body structure) [SNOMED CT concept]
- ITGB2 wt Allele [NCIt concept]
- LADS [IUPAC Term]
- Ladino Language [NCIt concept]
- Leukocyte adhesion deficiency type I [PASCAL descriptor]
- Leukocyte adhesion deficiency type II [PASCAL descriptor]
- diffuse axonal injury [MeSH Descriptor]
- dihydrolipoamide dehydrogenase [MeSH Descriptor]
- symbol withdrawn LAD [HGNC gene]
Broader ORDO disease(s)
- Leukocyte adhesion deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital leukocyte adherence deficiency (disorder) [SNOMED CT concept]
- Leukocyte Adhesion Deficiency [NCIt concept]
- Leukocyte Adhesion Deficiency Type 1 [NCIt concept]
- Leukocyte adhesion deficiency [ORDO Disease]
- Leukocyte adhesion deficiency [PASCAL descriptor]
- 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 [MedDRA Preferred Term]
- Leukocyte adhesion deficiency type I [ORDO Disease]
- Leukocyte-Adhesion deficiency syndrome [MeSH concept]
- leukocyte adhesion deficiency [DO Concept]
- leukocyte adhesion deficiency 1 [DO Concept]
- leukocyte adhesion deficiency type 1 [Disease (Nov.)]
- leukocyte adhesion deficiency type 1 [MeSH Supplementary Concept]
- leukocyte-adhesion deficiency syndrome [MeSH Descriptor]
DO Cross reference
- leukocyte adhesion deficiency 1 [DO Concept]
False automatic mappings
- dispensation assistance software [EFMI term]
Genes related to phenotype
- Integrin, beta-2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed umbilical cord separation [HPO term]
- Gingivitis [HPO term]
- Leukocytosis [HPO term]
- Neonatal omphalitis [HPO term]
- Osteomyelitis [HPO term]
- Periodontitis [HPO term]
- Poor wound healing [HPO term]
- Rectal abscess [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent gram-negative bacterial infections [HPO term]
- Recurrent staphylococcal infections [HPO term]
- Skin ulcer [HPO term]
ORDO concept(s)
- Leukocyte adhesion deficiency [ORDO Disease]
- Leukocyte adhesion deficiency type I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukocyte Adhesion Deficiency Type 1 [NCIt 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 1 [DO Concept]
- leukocyte adhesion deficiency type 1 [MeSH Supplementary Concept]
- leukocyte adhesion deficiency type 1 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Leukocyte adhesion deficiency [ICD-11 More detail]
- Leukocyte adhesion deficiency (disorder) [SNOMED CT concept]

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