ORPHA:641368
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
Also known as: AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency · Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
12
29.7th percentile
Trials
0
Interventional, condition-specific
Researchers
75
Distinct authors in sample
Gene link
ZNF341
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0957426
- MONDO:0032654
- OMIM:618282
- UMLS:C4748969
Additional Mondo synonyms (2)
HIES3 · autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ZNF341
- LiteraturePresent
12 matched papers (12 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 4 for broader category hyper-IgE 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 (ZNF341).
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?
12
12 papers have ever been indexed 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.
12 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).
12 in the last 10 years · high confidence · 29.7th percentile (publications denominator)
Phrase hits: 12 · MeSH hits: 0
Who's working on it?
75
Distinct author names in 12 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.
- 01Abidov A1 paper · 2025
Division of Immunology, University of Iowa Hospitals and Clinics, Iowa City, IA, United States.
Papers in Europe PMC - 02Aelami MH1 paper · 2026
Hand Hygiene and Infection Control Research Center Imam Reza Hospital, Mashhad, Iran.
Papers in Europe PMC - 03Ahanchian H1 paper · 2026
Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Papers in Europe PMC - 04August A1 paper · 2018
Department of Microbiology and Immunology, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA. Email: averyaugust@cornell.edu.
Papers in Europe PMC - 05Bayer DK1 paper · 2025
Stead Family Department of Pediatrics, University of Iowa Stead Family Children's Hospital, Iowa City, IA, United States.
Papers in Europe PMC - 06Beck LA1 paper · 2022
Department of Dermatology, University of Rochester Medical Center, New York, USA. Electronic address: lisa_beck@urmc.rochester.edu.
Papers in Europe PMC - 07Boehm M1 paper · 2019
Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC - 08Bonnal S1 paper · 2018
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona, 08002, Spain.
Papers in Europe PMC - 09Chen G1 paper · 2019
Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: chengb@nhlbi.nih.gov.
Papers in Europe PMC - 10Chen YH1 paper · 2021
Translational Gastroenterology Unit, University of Oxford, Oxford, UK.
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). 4 trials are registered for hyper-IgE syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
4 interventional trials matched hyper-IgE syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hyper-IgE syndrome
4
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.
Recruiting under the broader category
- NCT07262983·RECRUITING·Evaluating the Safety and Tolerability of Baricitinib in Patients With Job Syndrome With Lupus-Like Disease and/or Atopic Dermatitis
Conditions: Hyper IgE Syndrome From STAT3 Mutation · Job s Syndrome · HIES · Lupus·Matched via name phrase
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 2026-07-26This 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 recessive hyper-IgE syndrome due to ZNF341 deficiency" OR "AR-HIES due to ZNF341 deficiency" OR "Autosomal recessive HIES due to ZNF341 deficiency" OR "Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency" OR "HIES3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency" OR "AR-HIES due to ZNF341 deficiency" OR "Autosomal recessive HIES due to ZNF341 deficiency" OR "Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency" OR "HIES3" OR "ZNF341"
Recall-expansion terms: ZNF341
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hyper-IgE 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
Ingested 2026-07-27T19:33:58.238Z