ORPHA:445018
Syndromic autoimmune enteropathy due to LRBA deficiency
Also known as: Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein
Publications
2
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
30
Distinct authors in sample
Gene link
LRBA
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. , and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.
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:0013863
- OMIM:614700
- UMLS:C3553512
- NCIT:C17680
Additional Mondo synonyms (2)
CID due to LRBA deficiency · combined immunodeficiency due to LRBA deficiency
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.”
2/6 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
Definitive — LRBA
- LiteraturePresent
2 matched papers (2 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (LRBA).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
2
2 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
2 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
30
Distinct author names in 2 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Abraham RS1 paper · 2025
Nationwide Children's Hospital, Columbus, Ohio. Electronic address: Roshini.Abraham@nationwidechildrens.org.
Papers in Europe PMC - 02
- 03Bataneant M1 paper · 2026
2nd Pediatric Department, Clinical Emergency Hospital for Children "Louis Turcanu", 300011 Timisoara, Romania.
Papers in Europe PMC - 04Chandra A1 paper · 2025
Department of Clinical Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
Papers in Europe PMC - 05Chirita-Emandi A1 paper · 2026
Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Part of European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN-ITHACA), 300011 Timisoara, Romania.
Papers in Europe PMC - 06Cochino A1 paper · 2026
Department of Pediatrics, "Carol Davila" University of Medicine and Pharmacy, 020022 Bucharest, Romania.
Papers in Europe PMC - 07Ioan A1 paper · 2026
Department of Pediatrics, "Alessandrescu Rusescu" National Institute for Mother and Child Health, 020395 Bucharest, Romania.
Papers in Europe PMC - 08Jolles S1 paper · 2025
Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.
Papers in Europe PMC - 09Jurcut C1 paper · 2026
2nd Department of Internal Medicine, "Dr. Carol Davila" Central University Emergency Military Hospital, 010825 Bucharest, Romania.
Papers in Europe PMC - 10Lesmana H1 paper · 2025
Department of Medical Genetics and Genomics, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio; Department of Pediatric Hematology, Oncology and BMT, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio.
Papers in Europe PMC
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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05579353·RECRUITING·The Roles of Exosomal Circ-LRBA and 451/CRTC2 Signaling Axis in Colorectal Cancer
Conditions: Colorectal Cancer·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"Syndromic autoimmune enteropathy due to LRBA deficiency" OR "Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein" OR "CID due to LRBA deficiency" OR "combined immunodeficiency due to LRBA deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Syndromic autoimmune enteropathy due to LRBA deficiency" OR "Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein" OR "CID due to LRBA deficiency" OR "combined immunodeficiency due to LRBA deficiency" OR "LRBA" OR "syndromic agammaglobulinemia"
Recall-expansion terms: LRBA, syndromic agammaglobulinemia
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T16:30:06.321Z