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ORPHA:101088

X-linked hyper-IgM syndrome

low confidenceSubtype of disorder

Also known as: HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency · Hyper-IgM syndrome due to CD40L deficiency · Hyper-IgM syndrome type 1 · XHIGM

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,017

Trials

3

Interventional, condition-specific

Researchers

1,322

Distinct authors in sample

Gene link

CD40LG

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 (7)

Hyper IgM Syndromes · hyper-IgM syndrome due to CD40 ligand deficiency · hyper-IgM syndrome due to CD40L deficiency · hyper-IgM syndrome type 1 · hyper-IgM syndrome, X-linked · hyperimmunoglobulin M syndrome · immunodeficiency, X-linked, with hyper-IgM, X-linked recessive

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 — CD40LG

  2. LiteraturePresent

    1,017 matched papers (438 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

    3 matched on ClinicalTrials.gov

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 (CD40LG).

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?

1,017

1,017 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=5449) is 41.

1,017 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).

438 in the last 10 years · low confidence

Phrase hits: 1,017 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,322

Distinct author names in 200 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
    Lu G8 papers · 2025

    Department of Respiratory Infection, Guangzhou Medical University, No.9, Jinsui Road, Zhujiang New City, Tianhe District, Guangzhou, 510120, Guangdong, China.

    Papers in Europe PMC
  2. 02
    Wang Y6 papers · 2026

    Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

    Papers in Europe PMC
  3. 03
    de la Morena MT5 papers · 2019

    Department of Pediatrics/Immunology, University of Washington and Seattle Children's Research Institute, Seattle, Wash.

    Papers in Europe PMC
  4. 04
    Fan H5 papers · 2025

    Department of Respiratory Infection, Guangzhou Medical University, No.9, Jinsui Road, Zhujiang New City, Tianhe District, Guangzhou, 510120, Guangdong, China. sonny-000@163.com.

    Papers in Europe PMC
  5. 05
    Huang L5 papers · 2025

    Pediatric Intensive Care Unit, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No.9, Jinsui Road, Zhujiang New City, Tianhe District, Guangzhou, 510120, Guangdong, China. huangli7525@163.com.

    Papers in Europe PMC
  6. 06
    Li L5 papers · 2026

    Chinese Organization for Rare Disorders, Beijing, China.

    Papers in Europe PMC
  7. 07
    Li Y5 papers · 2026

    Department of Gastroenterology and Respiratory Medicine, The Affiliated Tumor Hospital of Guangxi Medical University, Nanning, 530021, Guangxi, China.

    Papers in Europe PMC
  8. 08
    Ochs HD5 papers · 2025

    c Department of Pediatrics , University of Washington School of Medicine, and Seattle Children's Research Institute , Seattle , WA , USA.

    Papers in Europe PMC
  9. 09
    Chen Y4 papers · 2026

    Chinese Organization for Rare Disorders, Beijing, China.

    Papers in Europe PMC
  10. 10
    Cunningham-Rundles C4 papers · 2023

    Departments of Medicine and Pediatrics, The Prism Immunology Institute, The Icahn School of Medicine at Mount Sinai; New York, USA

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting. 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

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

"X-linked hyper-IgM syndrome" OR "HIGM1" OR "Hyper-IgM syndrome due to CD40 ligand deficiency" OR "Hyper-IgM syndrome due to CD40L deficiency" OR "Hyper-IgM syndrome type 1" OR "XHIGM" OR "Hyper IgM Syndromes" OR "hyper-IgM syndrome, X-linked" OR "hyperimmunoglobulin M syndrome" OR "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive"

Run this search on Europe PMC

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

"X-linked hyper-IgM syndrome" OR "HIGM1" OR "Hyper-IgM syndrome due to CD40 ligand deficiency" OR "Hyper-IgM syndrome due to CD40L deficiency" OR "Hyper-IgM syndrome type 1" OR "XHIGM" OR "Hyper IgM Syndromes" OR "hyper-IgM syndrome, X-linked" OR "hyperimmunoglobulin M syndrome" OR "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive" OR "CD40LG"

Recall-expansion terms: CD40LG

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

Study-type breakdown: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hyper-IgM syndrome"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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 (1017) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:18:06.888Z