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ORPHA:70592

Transient predisposition to invasive pyogenic bacterial infection

low confidenceDisorder

Publications

7,460

Trials

0

Interventional, condition-specific

Researchers

1,600

Distinct authors in sample

Gene link

IRAK4

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.

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 (5)

IRAK4 deficiency · immunodeficiency 67 · immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency · invasive pneumococcal disease, recurrent isolated, 1 · invasive pneumococcal disease, recurrent isolated, type 1

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

    Strong — IRAK4

  2. LiteraturePresent

    7,460 matched papers (5,231 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Decreased total neutrophil count; Recurrent bacterial skin infections; Immunodeficiency) 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 (IRAK4).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0011888

  • Decreased total neutrophil count
  • Recurrent bacterial skin infections
  • Immunodeficiency
  • Recurrent streptococcus pneumoniae infections
  • Fever

Showing 5 of 19 — 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?

7,460

7,460 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.

7,460 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).

5,231 in the last 10 years · low confidence

Phrase hits: 274 · MeSH hits: 6

Open Europe PMC search

Who's working on it?

1,600

Distinct author names in 200 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
    Casanova JL10 papers · 2025

    St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University , New York, NY, USA.

    Papers in Europe PMC
  2. 02
    Puel A8 papers · 2025

    Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, Paris, France.

    Papers in Europe PMC
  3. 03
    Okada S6 papers · 2026

    Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

    Papers in Europe PMC
  4. 04
    Picard C6 papers · 2026

    Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance publique - hôpitaux de Paris, Paris, France.

    Papers in Europe PMC
  5. 05
    Boisson B5 papers · 2023

    St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University , New York, NY, USA.

    Papers in Europe PMC
  6. 06
    Meyts I5 papers · 2025

    Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven, and KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  7. 07
    Tangye SG5 papers · 2026

    Garvan Institute of Medical Research, Darlinghurst, Australia.

    Papers in Europe PMC
  8. 08
    Cunningham-Rundles C4 papers · 2025

    Departments of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. sboyd1@stanford.edu charlotte.cunningham-rundles@mssm.edu.

    Papers in Europe PMC
  9. 09
    Hambleton S4 papers · 2025

    Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  10. 10
    Henneke P4 papers · 2025

    Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

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

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 17 · after dedupe 17 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 17 · 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 (17)

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 Transient predisposition to invasive pyogenic bacterial infection — 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.

("Transient predisposition to invasive pyogenic bacterial infection" OR "IRAK4 deficiency" OR "immunodeficiency 67" OR "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" OR "invasive pneumococcal disease, recurrent isolated, 1" OR "invasive pneumococcal disease, recurrent isolated, type 1") OR (MESH:"[OBSOLETE] Invasive Pneumococcal Disease, Recurrent Isolated, 1" OR MESH:"IRAK4 Deficiency") OR ("IRAK4" OR "IRAK4 syndrome" OR "IRAK4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Invasive Pneumococcal Disease, Recurrent Isolated, 1; IRAK4 Deficiency

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

"Transient predisposition to invasive pyogenic bacterial infection" OR "IRAK4 deficiency" OR "immunodeficiency 67" OR "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" OR "invasive pneumococcal disease, recurrent isolated, 1" OR "invasive pneumococcal disease, recurrent isolated, type 1" OR "[OBSOLETE] Invasive Pneumococcal Disease, Recurrent Isolated, 1"

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

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (7460) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:36:48.025Z