ORPHA:477661
IL21-related infantile inflammatory bowel disease
Also known as: IL21-related infantile IBD
Publications
22,017
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
IL21
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and , oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014338
- OMIM:615767
- UMLS:C5567788
- NCIT:C176801
Additional Mondo synonyms (1)
immunodeficiency, common variable, type 11
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — IL21
- LiteraturePresent
22,017 matched papers (15,465 in last 10 years) Source
- Phenotype characterisedPresent
13 HPO annotations (e.g. Inflammation of the large intestine; Decreased class-switched memory B cell proportion; Abnormal total T cell number) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Possibly — only limited evidence so far for IL21.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
13
Associated phenotypes · MONDO:0014338
- Inflammation of the large intestine
- Decreased class-switched memory B cell proportion
- Abnormal total T cell number
- Aphthous ulcer
- Recurrent respiratory infections
Showing 5 of 13 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
22,017
22,017 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
22,017 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
15,465 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 55 · after dedupe 54 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 54 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (54)
- isrctn·ISRCTN49320109·Recruiting·A CAR T trial for amyloid light chain amyloidosis (AL Amyloid)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN62785249·Recruiting·Testing if the BCG vaccine alters exacerbations in people with chronic obstructive pulmonary disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN75533638·Recruiting·CAR-T cells for children, teenagers and young adults with sarcoma
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18175685·No longer recruiting·Stratification of clinically vulnerable people for COVID-19 risk using antibody testing
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15356845·Recruiting·A CAR T study for paediatric-type diffuse high-grade gliomas including diffuse midline glioma
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN16573769·No longer recruiting·DOMENICA: Randomized phase III trial in MMR deficient endometrial cancer patients comparing chemotherapy alone versus dostarlimab in a first-line advanced/metastatic setting
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15110275·No longer recruiting·Cell therapy clinical trial of BOXR1030 in GPC3 positive liver, squamous lung, Merkel cell cancer, and myxoid/round cell liposarcoma
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN95351638·No longer recruiting·PRISM – A Phase II trial testing alternate schedules of combination Ipilimumab-Nivolumab therapy for patients with advanced and metastatic renal cell carcinoma
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10403616·No longer recruiting·Isolation of circulating tumor cells from the blood of prostate cancer patients using an antibody-coated nanodetector
skipped — LLM skipped (--skip-llm)
- ctis·2025-523305-15-00·Authorised·THERIPEX - A phase I/II open label non-randomized study, monocentric, single-arm, evaluating Safety and Efficacy of induced T-CD4 Treg by LV vector transduction expressing the FoxP3 cDNA in patients with IPEX syndrom
skipped — LLM skipped (--skip-llm)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525590-40-00·Authorised, ongoing·Mass Balance and Absolute Oral Bioavailability of [14C]VH4524184
skipped — LLM skipped (--skip-llm)
- ctis·2025-522519-40-00·Authorised, ongoing·A Phase 2/3, Randomized, Active-Controlled, Open-Label (Phase 2) and Double-Blind (Phase 3) Study to Evaluate the Antiretroviral Activity, Safety, and Tolerability of Islatravir (ISL) and Ulonivirine (ULO) Once Weekly Compared With Bictegravir/Emtricitabine/Tenofovir Alafenamide (BIC/FTC/TAF) Once Daily in Treatment-Naïve Adult Participants Living With HIV 1
skipped — LLM skipped (--skip-llm)
- ctis·2025-522444-40-00·Authorised, ongoing·An open-label, single-arm extension study to evaluate the long-term safety, tolerability, and efficacy of leniolisib for immune dysregulation in patients with primary immunodeficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-520610-58-00·Expired·A Phase 3, Randomized, Active-Controlled, Double-Blind Clinical Study to Evaluate the Efficacy and Safety of MK-8527 Oral Once-Monthly as HIV-1 Preexposure Prophylaxis
skipped — LLM skipped (--skip-llm)
- ctis·2024-518420-80-00·Authorised, ongoing·A Multicenter, Randomized, Controlled, Open-label, Group-Sequential, Phase 3 Study to Investigate the Efficacy, Safety, and Tolerability of Intravenous Gammagard Liquid (Immune Globulin Infusion, 10%) for Primary Infection Prophylaxis Compared With Secondary Infection Prophylaxis in Adult Subjects With Multiple Myeloma Receiving B-Cell Maturation Antigen×CD3–Directed Bispecific Antibody Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517725-93-00·Cancelled·A study to assess safety and tolerability, and explore efficacy of leniolisib for immune dysregulation in common variable immunodeficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-520529-19-00·Cancelled·A phase 1 Clinical Trial to Evaluate Safety and Immunogenecity of HIV SOSIP v8.2 763 Vaccine in healthy individuals
skipped — LLM skipped (--skip-llm)
- ctis·2023-509588-25-00·Expired·A Multicenter, Randomized, Double-Blind, Placebo-controlled Study to Assess the Efficacy and Safety of Treatment with Bepirovirsen in Participants living with Human Immunodeficiency Virus and Chronic Hepatitis B Virus Infection on Antiretroviral Treatment
skipped — LLM skipped (--skip-llm)
- ctis·2024-518461-10-00·Cancelled·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study of Mavorixafor in Patients with WHIM Syndrome with Open-Label Extension
skipped — LLM skipped (--skip-llm)
- ctis·2024-518919-19-00·Cancelled·A single patient trial with Ataluren in one case of severe common variable immunodeficiency with autoimmunity due to homozygous stop codon mutations of LRBA
skipped — LLM skipped (--skip-llm)
- ctis·2023-510204-50-00·Revoked·Phase I/II clinical trial of autologous hematopoietic stem cell gene therapy in rag1-deficient severe combined immunodeficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-517792-20-00·Authorised, ongoing·A Single Arm, Open Label Clinical Study of Hematopoietic Stem Cell Gene Therapy with Cryopreserved Autologous CD34+ Cells Transduced with Lentiviral Vector encoding WAS cDNA in Subjects with Wiskott-Aldrich Syndrome (WAS)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511448-17-02·Cancelled·Safety Assessment of 10-Day Daily Bucco-Oral Administration of Transfer Factor in Healthy Adult Human Subjects
skipped — LLM skipped (--skip-llm)
- ctis·2024-515265-34-00·Cancelled·Virological and immunological assessment in HIV positive participants on 2DR versus 3DR in a prospective randomized controlled switch trial.
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for IL21-related infantile inflammatory bowel disease — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("IL21-related infantile inflammatory bowel disease" OR "IL21-related infantile IBD" OR "immunodeficiency, common variable, type 11") OR ("IL21" OR "IL21 syndrome" OR "IL21-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"IL21-related infantile inflammatory bowel disease" OR "IL21-related infantile IBD" OR "immunodeficiency, common variable, type 11"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: none
Parent literature probe: common variable immunodeficiency (MONDO:0015517) — 8848 hits
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (22017) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:07:33.623Z