severe combined immunodeficiency due to CD70 deficiency
MONDO:0034054Mondo
Findings
No curated finding names severe combined immunodeficiency due to CD70 deficiency 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
10 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.
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
- LymphadenopathyHPOHP:0002716
- 11 of 11 reported patients
- Recurrent feverHPOHP:0001954
- 1 of 1 reported patient
- Reduced total natural killer cell countHPOHP:0040218
- 1 of 1 reported patient
- Hodgkin lymphomaHPOHP:0012189
- 4 of 5 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 3 of 4 reported patients
- Partial absence of specific antibody response to tetanus vaccineHPOHP:0410297
- 2 of 3 reported patients
- Recurrent infectionsHPOHP:0002719
- 2 of 4 reported patients
- Severe varicella zoster infectionHPOHP:0032170
- 1 of 4 reported patients
- Lymphoproliferative disorderHPOHP:0005523
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.
- CD70HGNC:11937
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: severe combined immunodeficiency due to CD70 deficiency
- Also called
- lymphoproliferative syndrome 3