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Blood and immune system diseases

Leukocyte adhesion deficiency type I (LAD-I)

An immunodeficiency. White blood cells cannot reach the site of infection. This leads to severe and recurrent infections.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Blood and immune system diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

In this disease, white blood cells cannot attach to the blood vessel wall. Because of this, they cannot leave the blood vessels and reach the site of an infection. The body's fight against germs is weakened. In the severe type, it is life-threatening if not treated.

Which symptoms can occur?

Symptoms often begin in infancy. How severe the disease is varies from person to person.

  • Late falling off of the umbilical cord (common, one of the first signs)
  • Inflammation around the belly button (sometimes)
  • Severe bacterial and fungal infections of the skin and inside the mouth (common)
  • No pus at the site of infection (common)
  • Slow wound healing (common)
  • Severe gum inflammation and early tooth loss (common)

How is it diagnosed?

Severe infections and late falling off of the umbilical cord raise suspicion. In a blood test, the white blood cell count is high. A special blood test measures the CD18 protein on the cell surface. A genetic test confirms the diagnosis.

Treatment and care

Infections are brought under control with antibiotics. The main treatment that can provide a lasting cure is a stem cell transplant. Studies on gene therapy are ongoing. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

To have the disease, a person must receive one changed gene from the mother and one from the father. Carrier mothers and fathers often have no symptoms. In each pregnancy, the chance that the child is affected is 1 in 4. Genetic counselling is recommended.

Source: MedlinePlus Genetics — Leukocyte adhesion deficiency type 1 · Orphanet — Leukocyte adhesion deficiency type I (ORPHA:99842)

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Europe)
How is it inherited?
Autosomal recessive
When does it usually start?
Infancy, Childhood
Gene(s) involved
ITGB2

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about LAD-I

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 2 active interventional studies for this disease. 2 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Blood and immune system diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:99842

No separate ICD-11 code; WHO classifies this disease under: 4A00.0Y (Other specified functional neutrophil defects)

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.