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ORPHA:647804

Combined immunodeficiency due to FCHO1 deficiency

high confidenceDisorder

Publications

460

77.9th percentile

Trials

0

Interventional, condition-specific

Researchers

147

Distinct authors in sample

Gene link

FCHO1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare combined T and B cell immunodeficiency characterized by early-onset of recurrent severe bacterial, viral, and fungal infections. Many patients present . Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinemia.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

IMD76 · combined immunodeficiency due to FCHO1 deficiency · immunodeficiency 76 · immunodeficiency due to FCHO1 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 — FCHO1

  2. LiteraturePresent

    460 matched papers (334 in last 10 years) Source

  3. Phenotype characterisedPresent

    11 HPO annotations (e.g. Decreased total lymphocyte count; Growth delay; Splenomegaly) 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 (FCHO1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

11

Associated phenotypes · MONDO:0030898

  • Decreased total lymphocyte count
  • Growth delay
  • Splenomegaly
  • Chronic diarrhea
  • Decreased total T cell count

Showing 5 of 11 — 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?

460

460 papers have ever been published on this condition (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=3967) is 59.

460 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).

334 in the last 10 years · high confidence · 77.9th percentile (publications denominator)

Phrase hits: 25 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

147

Distinct author names in 25 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
    Guan E2 papers · 2020

    Department of Paediatric Medical Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, Shandong, China.

    Papers in Europe PMC
  2. 02
    Liu X2 papers · 2020

    Department of Paediatric Medical Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, Shandong, China.

    Papers in Europe PMC
  3. 03
    Pan H2 papers · 2020

    Department of Paediatric Medical Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, Shandong, China.

    Papers in Europe PMC
  4. 04
    Song A2 papers · 2020

    Department of Paediatric Medical Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, Shandong, China.

    Papers in Europe PMC
  5. 05
    Song L2 papers · 2020

    Department of Paediatric Medical Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, Shandong, China.

    Papers in Europe PMC
  6. 06
    Wang G2 papers · 2020

    Department of Paediatric Medical Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, Shandong, China.

    Papers in Europe PMC
  7. 07
    Yi Z2 papers · 2020

    Department of Paediatric Medical Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, Shandong, China.

    Papers in Europe PMC
  8. 08
    Adetona Fayemiwo S1 paper · 2021

    Department of Medical Microbiology and Parasitology, College of Medicine, University of Ibadan, University Hospital Ibadan, Ibadan, Nigeria.

    Papers in Europe PMC
  9. 09
    Albarnaz JD1 paper · 2018

    Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK. jd732@cam.ac.uk.

    Papers in Europe PMC
  10. 10
    Albuquerque MFPM1 paper · 2017

    Departamento de Saúde Coletiva. Centro de Pesquisas Aggeu Magalhães. Fundação Oswaldo Cruz. Recife, PE, Brasil.

    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.

high 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 16 · after dedupe 16 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 16 · 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 (16)

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 Combined immunodeficiency due to FCHO1 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.

("Combined immunodeficiency due to FCHO1 deficiency" OR "IMD76" OR "immunodeficiency 76" OR "immunodeficiency due to FCHO1 deficiency") OR ("FCHO1" OR "FCHO1 syndrome" OR "FCHO1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Combined immunodeficiency due to FCHO1 deficiency" OR "IMD76" OR "immunodeficiency 76" OR "immunodeficiency due to FCHO1 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

Ingested 2026-07-27T19:48:46.833Z