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ORPHA:101090

Hyper-IgM syndrome type 3

low confidenceSubtype of disorder

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

Publications

76,018

Trials

0

Interventional, condition-specific

Researchers

320

Distinct authors in sample

Gene link

CD40

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — CD40

  2. LiteraturePresent

    76,018 matched papers (41,246 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Decreased circulating IgE concentration; Recurrent bacterial infections; Decreased total neutrophil count) 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 trialPartial

    None under the specific name; 5 for broader category hyper-IgM syndrome

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)

10

Associated phenotypes · MONDO:0011735

  • Decreased circulating IgE concentration
  • Recurrent bacterial infections
  • Decreased total neutrophil count
  • Immunodeficiency
  • Increased circulating IgM concentration

Showing 5 of 10 — 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?

76,018

76,018 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.

76,018 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).

41,246 in the last 10 years · low confidence

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?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  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?

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). 5 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 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.

5 interventional trials matched hyper-IgM syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hyper-IgM syndrome

5

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.

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 Hyper-IgM syndrome type 3 — 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.

("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" OR "CD40 syndrome" OR "CD40-related")

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"

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

Parent-category trials query:

"hyper-IgM syndrome"

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 (76018) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:18:28.590Z