immunodeficiency 27A
MONDO:0008856Mondo
Findings
No curated finding names immunodeficiency 27A 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
23 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 bronchus physiologyHPOHP:0025427
- AnemiaHPOHP:0001903
- AnorexiaHPOHP:0002039
- DiarrheaHPOHP:0002014
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- Enlarged mesenteric lymph nodeHPOHP:0025043
- FeverHPOHP:0001945
- HepatosplenomegalyHPOHP:0001433
- HistiocytosisHPOHP:0100727
- HypoalbuminemiaHPOHP:0003073
- Hypoplasia of the femoral headHPOHP:0008802
- Increased circulating IgG concentrationHPOHP:0003237
Show the remaining 11
- Increased circulating IgM concentrationHPOHP:0003496
- Increased inflammatory responseHPOHP:0012649
- Increased total leukocyte countHPOHP:0001974
- LymphadenopathyHPOHP:0002716
- Night sweatsHPOHP:0030166
- PneumoniaHPOHP:0002090
- Pulmonary infiltratesHPOHP:0002113
- Rheumatoid factor positiveHPOHP:0002923
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.
- IFNGR1HGNC:5439
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: immunodeficiency 27A
- Also called
- immunodeficiency 27A, mycobacteriosis, ARimmunodeficiency type 27A