Living with Leukocyte adhesion deficiency 1
A rare inherited immune condition causing serious skin and mouth infections from birth, with slow wound healing.
Understanding Leukocyte adhesion deficiency 1
Serious bacterial and fungal infections begin from birth, mostly in the skin and the lining of the nose and mouth. An early sign is a late-falling umbilical cord stump, along with infection of the stump. Infections do not form pus, and wounds heal slowly. In childhood, severe gum disease can lead to loss of teeth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed separation of the umbilical cord
- Repeated bacterial infections
- Chronic yeast infections of the skin and mouth
- High white blood cell count
- Inflamed gums (gingivitis)
- Chronic diarrhea
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ITGB2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the ITGB2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: itgb2 leukocyte adhesion deficiency; lad - leukocyte adhesion deficiency type 1; lad 1; lad-i; lad-type i; lad1
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Leukocyte adhesion deficiency 1.
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