Living with Griscelli syndrome type 2
A rare inherited condition with light skin, silver hair, and an immune system that doesn't work well, with frequent infections.
Understanding Griscelli syndrome type 2
People have unusually light skin and silver-colored hair. They are prone to repeated infections and can develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), which can damage organs and tissues throughout the body. It usually begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Light skin and silver hair
- Weakened immune system and repeated infections
- Enlarged liver and spleen
- Yellowing of skin and eyes (jaundice)
- Low blood cell counts
- Premature graying of hair
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 RAB27A 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); Brain and nervous system specialists (neurologists); 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 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
Changes in the RAB27A gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: griscelli syndrome with hemophagocytic syndrome; griscelli-pruniéras syndrome type 2; gs2; hypopigmentation-immunodeficiency with or without neurologic impairment syndrome; paid syndrome; partial albinism and immunodeficiency syndrome
Patient organizations
- Immune Deficiency FoundationGriscelli syndrome type 2 · United States
- Jeffrey Modell FoundationGriscelli syndrome type 2 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Griscelli syndrome type 2.
Explore research for Griscelli syndrome type 2
Explore actively recruiting Griscelli syndrome type 2 studies with HealthSpark.
Find actively recruiting studies for Griscelli syndrome type 2 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Griscelli syndrome type 2 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Griscelli syndrome type 2
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Griscelli syndrome type 2 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.