immunodeficiency 72 with autoinflammation
MONDO:0033551Mondo
Findings
No curated finding names immunodeficiency 72 with autoinflammation 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
12 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.
- HepatosplenomegalyHPOHP:0001433
- 5 of 5 reported patients
- LymphadenopathyHPOHP:0002716
- 5 of 5 reported patients
- Recurrent infectionsHPOHP:0002719
- 5 of 5 reported patients
- BronchiectasisHPOHP:0002110
- 4 of 5 reported patients
- Increased memory T cell proportionHPOHP:0032184
- 4 of 5 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 3 of 5 reported patients
- Increased circulating IgG concentrationHPOHP:0003237
- 3 of 5 reported patients
- Increased total B cell countHPOHP:0005404
- 3 of 5 reported patients
- Clubbing of fingersHPOHP:0100759
- 1 of 4 reported patients
- HSV encephalitisHPOHP:0012302
- 1 of 5 reported patients
- Unusual molluscum contagiosumHPOHP:0032163
- 1 of 5 reported patients
- Recurrent otitis mediaHPOHP:0000403
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.
- NCKAP1LHGNC:4862
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
- A kind of