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ORPHA:445018

Syndromic autoimmune enteropathy due to LRBA deficiency

low confidenceDisorder

Also known as: Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein

Publications

1,726

Trials

0

Interventional, condition-specific

Researchers

30

Distinct authors in sample

Gene link

LRBA

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

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.

  1. Gene identifiedPresent

    Definitive — LRBA

  2. LiteraturePresent

    1,726 matched papers (1,484 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Colitis; Decreased circulating IgM concentration; Hypothyroidism) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

44

Associated phenotypes · MONDO:0013863

  • Colitis
  • Decreased circulating IgM concentration
  • Hypothyroidism
  • Asthma
  • Decreased class-switched memory B cell proportion

Showing 5 of 44 — 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?

1,726

1,726 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,726 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).

1,484 in the last 10 years · low confidence

Phrase hits: 2 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Abraham RS1 paper · 2025

    Nationwide Children's Hospital, Columbus, Ohio. Electronic address: Roshini.Abraham@nationwidechildrens.org.

    Papers in Europe PMC
  2. 02
    Aliu E1 paper · 2025

    Milton S. Hershey Medical Center, Hershey, Pa.

    Papers in Europe PMC
  3. 03
    Bataneant M1 paper · 2026

    2nd Pediatric Department, Clinical Emergency Hospital for Children "Louis Turcanu", 300011 Timisoara, Romania.

    Papers in Europe PMC
  4. 04
    Chandra 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
  5. 05
    Chirita-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
  6. 06
    Cochino A1 paper · 2026

    Department of Pediatrics, "Carol Davila" University of Medicine and Pharmacy, 020022 Bucharest, Romania.

    Papers in Europe PMC
  7. 07
    Ioan A1 paper · 2026

    Department of Pediatrics, "Alessandrescu Rusescu" National Institute for Mother and Child Health, 020395 Bucharest, Romania.

    Papers in Europe PMC
  8. 08
    Jolles S1 paper · 2025

    Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.

    Papers in Europe PMC
  9. 09
    Jurcut C1 paper · 2026

    2nd Department of Internal Medicine, "Dr. Carol Davila" Central University Emergency Military Hospital, 010825 Bucharest, Romania.

    Papers in Europe PMC
  10. 10
    Lesmana 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 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Syndromic autoimmune enteropathy due to LRBA deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("LRBA" OR "LRBA syndrome" OR "LRBA-related")

Run this search on Europe PMC

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"

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: phrase

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 (1726) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:30:06.321Z