periodic fever, immunodeficiency, and thrombocytopenia syndrome
MONDO:0007883Mondo
Findings
No curated finding names periodic fever, immunodeficiency, and thrombocytopenia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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 B cell countHPOHP:0010976
- 6 of 6 reported patients
- Recurrent infectionsHPOHP:0002719
- 6 of 6 reported patients
- Recurrent aphthous stomatitisHPOHP:0011107
- 4 of 6 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 4 of 6 reported patients
- BronchiectasisHPOHP:0002110
- 3 of 6 reported patients
- DiarrheaHPOHP:0002014
- 3 of 6 reported patients
- Abnormal CD4:CD8 ratioHPOHP:0031394
- 2 of 6 reported patients
- Intermittent thrombocytopeniaHPOHP:0004854
- 2 of 6 reported patients
- LymphadenopathyHPOHP:0002716
- 2 of 6 reported patients
- Pyoderma gangrenosumHPOHP:0025452
- 2 of 6 reported patients
- Recurrent feverHPOHP:0001954
- 2 of 6 reported patients
- Recurrent oral thrushHPOHP:0009098
- 1 of 6 reported patients
Show the remaining 3
- SplenomegalyHPOHP:0001744
- 1 of 6 reported patients
- AbscessHPOHP:0025615
- Specific learning disabilityHPOHP:0001328
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.
- WDR1HGNC:12754
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: periodic fever, immunodeficiency, and thrombocytopenia syndrome
- Also called
- lazy leukocyte syndrome