ORPHA:75391
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Also known as: Primary immunodeficiency due to MCM4 deficiency
Publications
16
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
145
Distinct authors in sample
Gene link
MCM4
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.
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:0012383
- MeSH:C566492
- OMIM:609981
- UMLS:C1864947
- NCIT:C123729
Additional Mondo synonyms (2)
mini-chromosome maintenance 4 · primary immunodeficiency due to MCM4 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.”
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
Strong — MCM4
- LiteraturePresent
16 matched papers (13 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 (MCM4).
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?
16
16 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.
16 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 16 · MeSH hits: 0
Who's working on it?
145
Distinct author names in 16 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.
- 01Casanova JL2 papers · 2019
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Papers in Europe PMC - 02Abe M1 paper · 2021
Department of Pediatrics, Graduate School of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
Papers in Europe PMC - 03Abel L1 paper · 2017
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Papers in Europe PMC - 04Ahammad F1 paper · 2020
Department of Genetic Engineering and Biotechnology, Jashore University of Science and Technology, Jashore, 7408, Bangladesh.
Papers in Europe PMC - 05Akahane K1 paper · 2021
Department of Pediatrics, Graduate School of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan.
Papers in Europe PMC - 06Al Noman MA1 paper · 2020
Department of Genetic Engineering and Biotechnology, Jashore University of Science and Technology, Jashore, 7408, Bangladesh.
Papers in Europe PMC - 07Aladjidi N1 paper · 2017
Pediatric Hemato-Oncology Unit, Bordeaux Hospital, Bordeaux, France.
Papers in Europe PMC - 08Alam R1 paper · 2020
Department of Genetic Engineering and Biotechnology, Jashore University of Science and Technology, Jashore, 7408, Bangladesh.
Papers in Europe PMC - 09Alcorn J1 paper · 2019
Drug Discovery & Development Research Group, College of Pharmacy and Nutrition, 104 Clinic Place, Health Sciences Building, University of Saskatchewan, Saskatoon, Saskatchewan (SK), S7N 2Z4, Canada. jane.alcorn@usask.ca.
Papers in Europe PMC - 10Ando K1 paper · 2021
Department of Hematology and Oncology, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" OR "Primary immunodeficiency due to MCM4 deficiency" OR "mini-chromosome maintenance 4"
MeSH descriptor terms unioned into the query: Natural Killer Cell Deficiency, Familial Isolated
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" OR "Primary immunodeficiency due to MCM4 deficiency" OR "mini-chromosome maintenance 4" OR "Natural Killer Cell Deficiency, Familial Isolated" OR "MCM4"
Recall-expansion terms: MCM4
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T01:49:04.085Z