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ORPHA:101090

Hyper-IgM syndrome type 3

high confidenceSubtype of disorder

Also known as: HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Publications

52

37.1th percentile

Trials

39

Interventional, condition-specific

Researchers

320

Distinct authors in sample

Gene link

CD40

Definitive

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

CD40 hyper-IgM syndrome · hyper-IgM syndrome caused by mutation in CD40 · hyper-IgM syndrome due to CD40 deficiency · immunodeficiency with hyper-IgM type 3

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CD40

  2. LiteraturePresent

    52 matched papers (20 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    39 matched on ClinicalTrials.gov (7 recruiting in sample)

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 (CD40).

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?

52

52 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=5449) is 41.

52 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).

20 in the last 10 years · high confidence · 37.1th percentile (publications denominator)

Phrase hits: 52 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

320

Distinct author names in 52 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Cerutti A8 papers · 2013

    Catalan Institute for Research and Advanced Studies, Barcelona Biomedical Research Park, Barcelona, Spain. acerutti@imim.es

    Papers in Europe PMC
  2. 02
    Plebani A7 papers · 2010
    Papers in Europe PMC
  3. 03
    Chen K5 papers · 2011

    Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, New York, USA.

    Papers in Europe PMC
  4. 04
    Al-Ghonaium A3 papers · 2019

    Department of Pediatrics, Section of Allergy and Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  5. 05
    Badolato R3 papers · 2005
    Papers in Europe PMC
  6. 06
    Chiu A3 papers · 2010
    Papers in Europe PMC
  7. 07
    Cols M3 papers · 2013
    Papers in Europe PMC
  8. 08
    Durandy A3 papers · 2012
    Papers in Europe PMC
  9. 09
    Ferrari S3 papers · 2005

    Istituto di Medicina Molecolare "Angelo Nocivelli," Clinica Pediatrica, Università di Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy.

    Papers in Europe PMC
  10. 10
    He B3 papers · 2010

    Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

39

interventional trials for this specific condition

39 interventional trials matched this specific condition name; 7 currently recruiting in our sample. 3 trials are registered for hyper-IgM syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

39 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.5th percentile).

high confidence · 96.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

39 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: hyper-IgM syndrome

3

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Hyper-IgM syndrome type 3" OR "HIGM3" OR "Hyper-IgM syndrome due to CD40 deficiency" OR "CD40 hyper-IgM syndrome" OR "hyper-IgM syndrome caused by mutation in CD40" OR "immunodeficiency with hyper-IgM type 3"

Run this search on Europe PMC

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

"Hyper-IgM syndrome type 3" OR "HIGM3" OR "Hyper-IgM syndrome due to CD40 deficiency" OR "CD40 hyper-IgM syndrome" OR "hyper-IgM syndrome caused by mutation in CD40" OR "immunodeficiency with hyper-IgM type 3" OR "CD40"

Recall-expansion terms: CD40

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 39 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hyper-IgM syndrome"

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 2026-07-27T07:18:28.590Z