combined immunodeficiency due to GINS1 deficiency
MONDO:0044725Mondo
Findings
No curated finding names combined immunodeficiency due to GINS1 deficiency 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
- Third trimester 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.
- Abnormal facial shapeHPOHP:0001999
- 5 of 5 reported patients
- Absent natural killer cellsHPOHP:0040219
- 5 of 5 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 5 of 5 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 5 of 5 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 5 of 5 reported patients
- Recurrent infectionsHPOHP:0002719
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- LymphadenopathyHPOHP:0002716
- 4 of 5 reported patients
- Postnatal growth retardationHPOHP:0008897
- 4 of 5 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 3 of 5 reported patients
- DiarrheaHPOHP:0002014
- 2 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 5 reported patients
Show the remaining 3
- Dry skinHPOHP:0000958
- 1 of 5 reported patients
- IchthyosisHPOHP:0008064
- 1 of 5 reported patients
- MyelodysplasiaHPOHP:0002863
- 1 of 5 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.
- GINS1HGNC:28980
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: combined immunodeficiency due to GINS1 deficiency
- Also called
- CID due to GINS1 deficiencycombined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropeniacombined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia