Features include always present findings: Inflammation of the large intestine, Increased circulating IgE concentration, Crohn's disease, and Decreased class-switched memory B cell proportion and others. 13 total HPO annotations.

IL21 encodes interleukin 21 (162 aa). Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells. Highest expression in Testis (1.4 TPM) and Adipose Subcutaneous (0.0 TPM).

IL21-related infantile inflammatory bowel disease has limited evidence linking it to mutations in the IL21 gene on chromosome 4.

The IL21 protein participates in IL21 receptor STAT binding and p-STAT1 and NFATC1 bind the TBX21 gene pathways.

IL21 is classified as a druggable target (Druggable Genome category) with score 17.4.

Genetic testing for IL21 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for IL21-related infantile inflammatory bowel disease has been reported in the published literature.

Phenotype severity distribution: 12 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for IL21-related infantile inflammatory bowel disease.

77 publications have been identified in PubMed for IL21-related infantile inflammatory bowel disease. Research spans Basic Science / Preclinical (58%), Case Report / Case Series (13%), and Review / Meta-Analysis (10%).