IL21-related infantile inflammatory bowel disease
MONDO:0014338Mondo
Findings
No curated finding names IL21-related infantile inflammatory bowel disease 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
13 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.
- Aphthous ulcerHPOHP:0032154
- 1 of 1 reported patient
- Clubbing of fingersHPOHP:0100759
- 1 of 1 reported patient
- Crohn's diseaseHPOHP:0100280
- 1 of 1 reported patient · Childhood onset
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient · Childhood onset
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Increased circulating IgE concentrationHPOHP:0003212
- 1 of 1 reported patient · Childhood onset
- Inflammation of the large intestineHPOHP:0002037
- 1 of 1 reported patient
- Mucoid diarrheaHPOHP:0033343
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
Show the remaining 1
- Abnormal total T cell numberHPOHP:0011839
- 0 of 1 reported patient
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.
- IL21HGNC:6005
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: IL21-related infantile inflammatory bowel disease
- Also called
- IL21-related infantile IBDimmunodeficiency, common variable, type 11