ORPHA:314689
Combined immunodeficiency due to STK4 deficiency
Also known as: CID due to STK4 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
250
77.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,258
Distinct authors in sample
Gene link
MST1, STK4
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013934
- OMIM:614868
- UMLS:C3553943
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.”
2/6 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.
- Gene identifiedPresent
Definitive — MST1, STK4
- LiteraturePresent
250 matched papers (185 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 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)
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?
250
250 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.
250 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).
185 in the last 10 years · medium confidence · 77.5th percentile (publications denominator)
Phrase hits: 250 · MeSH hits: 0
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.
- 01Li 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 - 02Zhang Y14 papers · 2026
Department of Cardiology, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
Papers in Europe PMC - 03Wang Y9 papers · 2024
Division of Gastroenterology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.
Papers in Europe PMC - 04Casanova 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 - 05Jouanguy 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 - 06Li 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 - 07Béziat 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 - 08Tao 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 - 09Wang H7 papers · 2026
Heart Hospital, Xi'an International Medical Center, Xi'an, China.
Papers in Europe PMC - 10Li 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 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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"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"
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" OR "MST1" OR "STK4"
Recall-expansion terms: MST1, STK4
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- Publication count (250) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T13:12:14.343Z