autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
Findings
No curated finding names autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.
Definition from the Mondo Disease Ontology (MONDO:0014493), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased total lymphocyte countHPOHP:0001888
- 18 of 19 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 65 of 120 reported patients
- Very frequent (80% to 99% of cases)
- Atopic dermatitisHPOHP:0001047
- Frequent (30% to 79% of cases)
- Autoimmune hemolytic anemiaHPOHP:0001890
- 4 of 14 reported patients
- Frequent (30% to 79% of cases)
- Autoimmune thrombocytopeniaHPOHP:0001973
- 5 of 14 reported patients
- Frequent (30% to 79% of cases)
- Decreased circulating IgA concentrationHPOHP:0002720
Show the remaining 23
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 48 of 131 reported patients
- Frequent (30% to 79% of cases)
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 41 of 132 reported patients
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- 6 of 12 reported patients
- Frequent (30% to 79% of cases)
- Atrophic gastritisHPOHP:0002582
- 8 of 133 reported patients
- Occasional (5% to 29% of cases)
- Autoimmune neutropeniaHPOHP:0001904
- Occasional (5% to 29% of cases)
- Bronchiectasis
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTLA4HGNC:2505
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Also called
- ALPS due to CTLA4 haploinsufficiencyALPS type 5ALPS type Vautoimmune lymphoproliferative syndrome type 5autoimmune lymphoproliferative syndrome type VCHAICTLA-4 haploinsufficiency with autoimmune infiltration diseaseCTLA4 haploinsufficiencyimmune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation