Living with Leukocyte adhesion deficiency type II
A rare inherited condition with repeated infections, slow growth, and severe learning and developmental challenges.
Understanding Leukocyte adhesion deficiency type II
It affects the immune system and the brain. Signs appear in infancy and childhood. Features can include a high white blood cell count, coarse facial features, seizures, and short height.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections
- Severe intellectual disability
- Slow growth and short stature
- Seizures
- High white blood cell count
- Anemia (low red blood cells)
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, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC35C1 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
CDG CARE, Epilepsy Foundation and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation, 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 CDG CARE and other patient organizations
- 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 SLC35C1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cdg 2c; cdg iic; cdg syndrome type iic; cdg-iic; cdg2c; cdgiic
Patient organizations
- CDG CARELeukocyte adhesion deficiency type II · United States
- CDG & Allies - PPAINLeukocyte adhesion deficiency type II · Epilepsy Foundation
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Leukocyte adhesion deficiency type II.
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