ORPHA:331226
Susceptibility to infection due to TYK2 deficiency
Publications
360
81.8th percentile
Trials
6
Interventional, condition-specific
Researchers
1,384
Distinct authors in sample
Gene link
TYK2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.
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:0012682
- MeSH:C566928
- OMIM:611521
- UMLS:C1969086
Additional Mondo synonyms (11)
HIES with atypical Mycobacteriosis, autosomal recessive · IMD35 · TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency · TYK2 deficiency · autosomal recessive hyper-IgE syndrome due to TYK2 deficiency · autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2 · hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive · immunodeficiency 35 · immunodeficiency type 35 · susceptibility to infection due to TYK2 deficiency · tyrosine kinase 2 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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — TYK2
- LiteraturePresent
360 matched papers (247 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 trialPresent
6 matched on ClinicalTrials.gov (2 recruiting in sample)
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 (TYK2).
GenCC classification: Strong.
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?
360
360 papers have ever been published on this condition (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.
360 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).
247 in the last 10 years · medium confidence · 81.8th percentile (publications denominator)
Phrase hits: 360 · MeSH hits: 1
Who's working on it?
1,384
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.
- 01Casanova JL26 papers · 2026
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.
Papers in Europe PMC - 02Boisson-Dupuis S17 papers · 2025
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Papers in Europe PMC - 03Strobl B15 papers · 2026
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Vienna, Austria.
Papers in Europe PMC - 04Bustamante J13 papers · 2025
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.
Papers in Europe PMC - 05Müller M12 papers · 2026
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Vienna, Vienna, Austria.
Papers in Europe PMC - 06Abel L11 papers · 2025
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Papers in Europe PMC - 07Puel A11 papers · 2025
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Papers in Europe PMC - 08Zhang Q10 papers · 2025
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Papers in Europe PMC - 09Cobat A8 papers · 2025
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Papers in Europe PMC - 10Jouanguy E7 papers · 2025
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).
medium confidence · 89th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07487948·RECRUITING·Safety and Biomarker Responses of Delgocitinib (JAK1,2,3/TYK2 Inhibitor) in Central Centrifugal Cicatricial Alopecia and Lichen Planopilaris
Conditions: Central Centrifugal Cicatricial Alopecia · Lichen Planopilaris·Matched via recall expansion
- NCT07234591·RECRUITING·A Study to Evaluate Effectiveness and Safety of a TYK2 Inhibitor in Subjects With Moderate to Severe Plaque Psoriasis
Conditions: Plaque Psoriasis · Moderate to Severe Plaque Psoriasis·Matched via recall expansion
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.
"Susceptibility to infection due to TYK2 deficiency" OR "HIES with atypical Mycobacteriosis, autosomal recessive" OR "IMD35" OR "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" OR "TYK2 deficiency" OR "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" OR "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2" OR "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive" OR "immunodeficiency 35" OR "immunodeficiency type 35" OR "tyrosine kinase 2 deficiency"
MeSH descriptor terms unioned into the query: Tyrosine Kinase 2 Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Susceptibility to infection due to TYK2 deficiency" OR "HIES with atypical Mycobacteriosis, autosomal recessive" OR "IMD35" OR "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" OR "TYK2 deficiency" OR "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" OR "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2" OR "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive" OR "immunodeficiency 35" OR "immunodeficiency type 35" OR "tyrosine kinase 2 deficiency" OR "TYK2"
Recall-expansion terms: TYK2
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 6 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 (360) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T14:09:54.005Z