immunodeficiency 109 with lymphoproliferation
MONDO:0859526Mondo
Findings
No curated finding names immunodeficiency 109 with lymphoproliferation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
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 anti-CD3/28-induced T-cell proliferationHPOHP:0031382
- 2 of 2 reported patients
- Generalized lymphadenopathyHPOHP:0008940
- 2 of 2 reported patients
- Persistent EBV viremiaHPOHP:0020072
- 2 of 2 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- Absent circulating B cellsHPOHP:0030252
- 1 of 2 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 2 reported patients
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 1 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 2 reported patients
- Decreased circulating specific pneumococcal antibody concentrationHPOHP:0012476
- 1 of 2 reported patients
- Hodgkin lymphomaHPOHP:0012189
- 1 of 2 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 1 of 2 reported patients
- HypofibrinogenemiaHPOHP:0011900
- 1 of 2 reported patients
Show the remaining 3
- PancytopeniaHPOHP:0001876
- 1 of 2 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 2 reported patients
- Recurrent sinusitisHPOHP:0011108
- 1 of 2 reported patients
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.
- TNFRSF9HGNC:11924
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of