severe combined immunodeficiency due to CORO1A deficiency
MONDO:0014168Mondo
Findings
No curated finding names severe combined immunodeficiency due to CORO1A 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
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 1 of 1 reported patient
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410300
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- ImmunodeficiencyHPOHP:0002721
- 1 of 1 reported patient
- Post-vaccination varicella zoster virus infectionHPOHP:4000166
- 1 of 1 reported patient
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 1 reported patient
- Recurrent oral thrushHPOHP:0009098
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 1 of 1 reported patient
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.
- CORO1AHGNC:2252
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: severe combined immunodeficiency due to CORO1A deficiency
- Also called
- coronin-1A deficiencyimmunodeficiency type 8SCID due to CORO1A deficiencySCID due to coronin-1A deficiencysevere combined immunodeficiency due to coronin-1A deficiency