reticular dysgenesis
Findings
No curated finding names reticular dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
Definition from the Mondo Disease Ontology (MONDO:0009973), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
82 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.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 2 of 2 reported patients
- Absence of circulating granulocytesHPOHP:0012234
- 2 of 2 reported patients
- Aplasia of the thymusHPOHP:0005359
- 1 of 1 reported patient
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- Bacterial sepsisHPOHP:5210140
- 1 of 1 reported patient
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 1 reported patient
- Cholestatic liver diseaseHPO
Show the remaining 70
- Decreased natural killer cell-induced killing of target cellsHPOHP:0025808
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 5 of 5 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 1 of 1 reported patient
- Decreased total CD8+ T cell proportionHPOHP:0005415
- 1 of 1 reported patient
- Decreased total eosinophil countHPOHP:0031891
- 6 of 6 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 15 of 15 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.
- AK2HGNC:362
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
7 names
Resolves to: reticular dysgenesis
- Also called
- AK2 deficiencycongenital aleukocytosisDe Vaal diseasegeneralised haematopoietic hypoplasiageneralized hematopoietic hypoplasiaSCID with leukopeniasevere combined immunodeficiency with leukopenia