Living with Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
A rare genetic immune condition caused by having only one working copy of the CTLA4 gene.
Understanding Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
It is linked to autoimmune lymphoproliferative syndrome, type V. Features can include immune attacks on blood cells, swollen lymph nodes, an enlarged spleen and liver, diarrhea, and repeated infections. It can begin from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Swollen lymph nodes
- Enlarged spleen and liver
- Immune attack on red blood cells or platelets
- Diarrhea
- Repeated chest and respiratory infections
- Eczema (atopic dermatitis)
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, cancer specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CTLA4 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); Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); 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
GARD says a change in the CTLA4 gene leaves only one working copy (haploinsufficiency). It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: alps due to ctla4 haploinsufficiency; alps due to ctla4 haploinsuffiency; alps type 5; alps type v; autoimmune lymphoproliferative syndrome 5; autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency
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 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency.
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