granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Findings
No curated finding names granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.
Definition from the Mondo Disease Ontology (MONDO:0009310), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Axillary lymphadenopathyHPOHP:0034752
- 1 of 1 reported patient
- Cervical lymphadenopathyHPOHP:0025289
- 1 of 1 reported patient
- Decreased neutrophil oxidative burstHPOHP:0003203
- 7 of 7 reported patients
- Inflammation of the large intestineHPOHP:0002037
- 1 of 1 reported patient
- Mediastinal lymphadenopathyHPOHP:0100721
- 1 of 1 reported patient
- Pulmonary noduleHPOHP:0033608
- 1 of 1 reported patient
- Recurrent abscess formationHPO
Show the remaining 7
- OsteomyelitisHPOHP:0002754
- 1 of 7 reported patients
- Perianal abscessHPOHP:0009789
- 1 of 7 reported patients
- Recurrent bacterial skin infectionsHPOHP:0005406
- 1 of 7 reported patients
- Recurrent oral thrushHPOHP:0009098
- 1 of 7 reported patients
- Recurrent urinary tract infectionsHPOHP:0000010
- 1 of 7 reported patients
- ImmunodeficiencyHPOHP:0002721
- Lymphadenopathy
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.
- NCF2HGNC:7661
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
- Also called
- chronic granulomatous disease 2, autosomal recessivechronic granulomatous disease caused by mutation in NCF2NCF2 chronic granulomatous disease