autoinflammatory syndrome, familial, X-linked, Behcet-like 2
MONDO:0024770Mondo
Findings
No curated finding names autoinflammatory syndrome, familial, X-linked, Behcet-like 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- ArthritisHPOHP:0001369
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Chronic gastritisHPOHP:0005231
- 2 of 2 reported patients
- Decreased memory B cell proportionHPOHP:0030374
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 3 of 3 reported patients
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 1 of 1 reported patient
- Oral ulcerHPOHP:0000155
- 4 of 4 reported patients
- Recurrent feverHPOHP:0001954
- 3 of 3 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- Reduced total natural killer cell countHPOHP:0040218
- 1 of 1 reported patient
- Skin rashHPOHP:0000988
- 1 of 1 reported patient
- Iron deficiency anemiaHPOHP:0001891
- 3 of 4 reported patients
Show the remaining 12
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 2 of 3 reported patients
- EsophagitisHPOHP:0100633
- 1 of 2 reported patients
- Abdominal painHPOHP:0002027
- 1 of 3 reported patients
- Anoperineal fistulaHPOHP:0005218
- 1 of 3 reported patients
- ColitisHPOHP:0002583
- 1 of 3 reported patients
- DiarrheaHPOHP:0002014
- 1 of 3 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.
- ELF4HGNC:3319
- Definitive · ClinGen · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
Where it sits
Other names
2 names
Resolves to: autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- Also called
- AIFBL2deficiency 1n ELF4, X-linked