Leukocyte adhesion deficiency type I

General Information (adopted from Orphanet):

Synonyms, Signs: LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN 1 IMMUNODEFICIENCY
LFA1 IMMUNODEFICIENCY
LAD
LAD1
LAD-I
Number of Symptoms 7
OrphanetNr: 99842
OMIM Id: 116920
ICD-10: D84.8
UMLs: C0398738
MeSH: C535887
MedDRA:
Snomed: 234582006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Leukocyte adhesion deficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0000230) Gingivitis 31 / 7739
2
(HPO:0000704) Periodontitis 24 / 7739
3
(HPO:0005224) Rectal abscess 10 / 7739
4
(OMIM) Recurrent staphylococcal and gram-negative infections 1 / 7739
5
(OMIM) Low levels of CD11/CD18 (LFA-1 or leukocyte function antigen-1) glycoprotein 1 / 7739
6
(OMIM) Poor adhesion related functions, such as adhesion to endothelial cells, chemotaxis, and antibody-dependent cellular cytotoxicity 1 / 7739
7
(OMIM) Leukocytosis with predominant granulocytosis (20,000-100,000 /mm3) common 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM Diagnosis of hereditary deficiency of CR3 is facilitated by commercial availability of monoclonal antibodies specific for the alpha-integrin chains of CR3 and p150,95.
Clinical Description OMIM Beginning in the 1970s, patients were recognized who had recurrent bacterial infections, defective neutrophil mobility, and delayed separation of the umbilical cord (e.g., Hayward et al., 1979). Before the elucidation by Springer et al. (1984, 1986) and Barclay ...
Molecular genetics OMIM Dana et al. (1987) studied 4 unrelated patients with the family of 3 leukocyte adhesion molecules, which they called Leu-CAM. They called the 3 antigens Mo1, LFA-1, and Leu M5. In all 4 patients, they found that B ...