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ORPHA:314689

Combined immunodeficiency due to STK4 deficiency

low confidenceDisorder

Also known as: CID due to STK4 deficiency

Publications

10,180

Trials

0

Interventional, condition-specific

Researchers

1,258

Distinct authors in sample

Gene link

MST1, STK4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

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 (4)

MST1 deficiency · STK4 deficiency · T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations · TIIAC

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

    Definitive — MST1, STK4

  2. LiteraturePresent

    10,180 matched papers (7,718 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Recurrent pneumonia; Verrucae; Recurrent aphthous stomatitis) 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 (MST1, STK4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

25

Associated phenotypes · MONDO:0013934

  • Recurrent pneumonia
  • Verrucae
  • Recurrent aphthous stomatitis
  • Hodgkin lymphoma
  • Recurrent mucocutaneous candidiasis

Showing 5 of 25 — 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?

10,180

10,180 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.

10,180 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).

7,718 in the last 10 years · low confidence

Phrase hits: 250 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,258

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
    Li J15 papers · 2026

    State Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China. jsli@sibcb.ac.cn.

    Papers in Europe PMC
  2. 02
    Zhang Y14 papers · 2026

    Department of Cardiology, Xijing Hospital, Fourth Military Medical University, Xi'an, China.

    Papers in Europe PMC
  3. 03
    Wang Y9 papers · 2024

    Division of Gastroenterology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.

    Papers in Europe PMC
  4. 04
    Casanova JL8 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Jouanguy E8 papers · 2025

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

    Papers in Europe PMC
  6. 06
    Li Y8 papers · 2025

    State Key Laboratory of Cellular Stress Biology, Innovation Center for Cell Signaling Network, School of Life Sciences, Xiamen University, Xiamen, China.

    Papers in Europe PMC
  7. 07
    Béziat V7 papers · 2026

    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, France.

    Papers in Europe PMC
  8. 08
    Tao W7 papers · 2018

    State Key Laboratory of Genetic Engineering and Institute of Developmental Biology and Molecular Medicine, Fudan University, Shanghai 200433, China; Obstetrics & Gynecology Hospital, Fudan University, Shanghai 200433, China. Electronic address: wufan_tao@fudan.edu.cn.

    Papers in Europe PMC
  9. 09
    Wang H7 papers · 2026

    Heart Hospital, Xi'an International Medical Center, Xi'an, China.

    Papers in Europe PMC
  10. 10
    Li X6 papers · 2025

    Department of Laboratory Medicine, the First Affiliated Hospital, Medical College of Xiamen University, Xiamen, China.

    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).

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.

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 2026-07-30

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).

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 Combined immunodeficiency due to STK4 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.

("Combined immunodeficiency due to STK4 deficiency" OR "CID due to STK4 deficiency" OR "MST1 deficiency" OR "STK4 deficiency" OR "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" OR "TIIAC") OR ("MST1" OR "MST1 syndrome" OR "MST1-related" OR "STK4" OR "STK4 syndrome" OR "STK4-related")

Run this search on Europe PMC

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

"Combined immunodeficiency due to STK4 deficiency" OR "CID due to STK4 deficiency" OR "MST1 deficiency" OR "STK4 deficiency" OR "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" OR "TIIAC"

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

Query health: ok — strategies attempted: phrase; 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 (10180) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:12:14.343Z