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ORPHA:2314

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

high confidenceDisorder

Also known as: AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency · Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency · Buckley syndrome · Job syndrome

Query health: suspect — Source fetch failed for trials.

Publications

205,383

99.9th percentile

Trials

—

Interventional, condition-specific

Researchers

1,356

Distinct authors in sample

Gene link

STAT3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (18)

AD hyperimmunoglobulin E syndrome · AD-HIES · HIES autosomal dominant · HIES, autosomal dominant · JOB syndrome · Job syndrome autosomal dominant · Job's syndrome · STAT3 deficiency · autosomal dominant HIES · autosomal dominant hyper IgE syndrome · autosomal dominant hyper-IgE syndrome · autosomal dominant hyperimmunoglobulin E syndrome · hyper Ig E syndrome, autosomal dominant · hyper-IgE recurrent infection syndrome, autosomal dominant · hyper-IgE syndrome, autosomal dominant · hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant · hyperimmunoglobulin E syndrome type 1 · immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Definitive — STAT3

  2. LiteraturePresent

    205,383 matched papers (154,242 in last 10 years) Source

  3. Phenotype characterisedPresent

    100 HPO annotations (e.g. Increased circulating IgE concentration; Generalized abnormality of skin; Atelectasis) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot checked

    Trial fetch failed or incomplete

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 (STAT3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

100

Associated phenotypes · MONDO:0007818

  • Increased circulating IgE concentration
  • Generalized abnormality of skin
  • Atelectasis
  • Abnormality of the face
  • Mandibular prognathia

Showing 5 of 100 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

205,383

205,383 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.

205,383 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).

154,242 in the last 10 years · high confidence · 99.9th percentile (publications denominator)

Phrase hits: 2,497 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,356

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
    Freeman AF24 papers · 2026

    Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  2. 02
    Holland SM10 papers · 2023

    Laboratory of Clinical Immunology and Microbiology, and.

    Papers in Europe PMC
  3. 03
    Milner JD8 papers · 2023

    Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: jdmilner@niaid.nih.gov.

    Papers in Europe PMC
  4. 04
    Carrabba M6 papers · 2026

    Department of Internal Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Dellepiane RM6 papers · 2026

    Department of Pediatrics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

    Papers in Europe PMC
  6. 06
    Grimbacher B6 papers · 2025

    Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. bodo.grimbacher@uniklinik-freiburg.de.

    Papers in Europe PMC
  7. 07
    Baselli LA5 papers · 2026

    Department of Pediatrics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Boehm M5 papers · 2022

    Center for Molecular Medicine, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Md.

    Papers in Europe PMC
  9. 09
    Fabio G5 papers · 2026

    Department of Internal Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Puel A5 papers · 2024

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 11 September 2026 · last trial check 31 July 2026

high confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional 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 2026-07-29

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 Autosomal dominant hyper-IgE syndrome due to STAT3 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.

("Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency" OR "AD-HIES due to STAT3 deficiency" OR "Autosomal dominant HIES due to STAT3 deficiency" OR "Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency" OR "Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of the transcription 3 protein deficiency" OR "Buckley syndrome" OR "Job syndrome" OR "AD hyperimmunoglobulin E syndrome" OR "AD-HIES" OR "HIES autosomal dominant" OR "HIES, autosomal dominant" OR "Job syndrome autosomal dominant" OR "Job's syndrome" OR "STAT3 deficiency" OR "autosomal dominant HIES" OR "autosomal dominant hyper IgE syndrome" OR "autosomal dominant hyper-IgE syndrome" OR "autosomal dominant hyperimmunoglobulin E syndrome" OR "hyper Ig E syndrome, autosomal dominant" OR "hyper-IgE recurrent infection syndrome, autosomal dominant" OR "hyper-IgE syndrome, autosomal dominant" OR "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant" OR "hyperimmunoglobulin E syndrome type 1" OR "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist") OR ("STAT3" OR "STAT3 syndrome" OR "STAT3-related")

Run this search on Europe PMC

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

"Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency"

Query health: suspect — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Autosomal%20dominant%20hyper-IgE%20syndrome%20due%20to%20STAT3%20deficiency%22%20OR%20%22AD-HIES%20due%20to%20STAT3%20deficiency%22%20OR%20%22Autosomal%20dominant%20HIES%20due%20to%20STAT3%20deficiency%22%20OR%20%22Autosomal%20dominant%20hyperimmunoglobulin%20E%20syndrome%20due%20to%20signal%20transducer%20and%20activator%20of%20transcription%203%20protein%20deficiency%22%20OR%20%22Autosomal%20dominant%20hyperimmunoglobulin%20E%20syndrome%20due%20to%20signal%20transducer%20and%20activator%20of%20the%20transcription%203%20protein%20deficiency%22%20OR%20%22Buckley%20syndrome%22%20OR%20%22Job%20syndrome%22%20OR%20%22AD%20hyperimmunoglobulin%20E%20syndrome%22%20OR%20%22AD-HIES%22%20OR%20%22HIES%20autosomal%20dominant%22%20OR%20%22HIES%2C%20autosomal%20dominant%22%20OR%20%22Job%20syndrome%20autosomal%20dominant%22%20OR%20%22Job's%20syndrome%22%20OR%20%22STAT3%20deficiency%22%20OR%20%22autosomal%20dominant%20HIES%22%20OR%20%22autosomal%20dominant%20hyper%20IgE%20syndrome%22%20OR%20%22autosomal%20dominant%20hyper-IgE%20syndrome%22%20OR%20%22autosomal%20dominant%20hyperimmunoglobulin%20E%20syndrome%22%20OR%20%22hyper%20Ig%20E%20syndrome%2C%20autosomal%20dominant%22&format=json&pageSize=100&countTotal=true

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 2026-07-26T19:49:11.623Z