leukocyte adhesion deficiency 1
Findings
No curated finding names leukocyte adhesion deficiency 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.
Definition from the Mondo Disease Ontology (MONDO:0007293), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Delayed umbilical cord separationHPOHP:0032434
- 6 of 6 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- GingivitisHPOHP:0000230
- 1 of 1 reported patient
- HyperfibrinogenemiaHPOHP:0011899
- 1 of 1 reported patient
- Increased total leukocyte countHPOHP:0001974
- 32 of 32 reported patients
- Recurrent bacterial infectionsHPO
Show the remaining 1
- Poor wound healingHPOHP:0001058
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITGB2HGNC:6155
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: leukocyte adhesion deficiency 1
- Also called
- ITGB2 leukocyte adhesion deficiencyLAD-Ilad-type ILAD1leukocyte adhesion deficiency caused by mutation in ITGB2leukocyte adhesion deficiency type 1leukocyte adhesion deficiency type ILFA-I deficiencyLFA1 immunodeficiencylymphocyte function-associated antigen 1 immunodeficiency