ORPHA:238505
Combined immunodeficiency due to CD27 deficiency
Also known as: Autosomal recessive lymphoproliferative disease due to CD27 deficiency · CD27 deficiency
Publications
144
66.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,010
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.
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.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
144 matched papers (103 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
144
144 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.
144 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).
103 in the last 10 years · high confidence · 66.8th percentile (publications denominator)
Phrase hits: 144 · MeSH hits: 0
Who's working on it?
1,010
Distinct author names in 144 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.
- 01Borst J11 papers · 2017
Division of Immunology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.
Papers in Europe PMC - 02Seidel MG8 papers · 2025
Pediatric Hematology-Oncology, Medical University of Graz, Austria.
Papers in Europe PMC - 03Xiao Y8 papers · 2013
Division of Immunology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.
Papers in Europe PMC - 04Tangye SG7 papers · 2025
Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW, 2010, Australia. s.tangye@garvan.org.au.
Papers in Europe PMC - 05Abolhassani H6 papers · 2023
Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.
Papers in Europe PMC - 06Boztug K6 papers · 2020
Department of Pediatric Hematology and Oncology, St. Anna Children's Hospital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
Papers in Europe PMC - 07Casanova JL6 papers · 2024
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 08Klein C6 papers · 2025
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
Papers in Europe PMC - 09Cunningham-Rundles C5 papers · 2025
Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Papers in Europe PMC - 10Lenardo MJ5 papers · 2020
From the Section of Molecular Development of the Immune System, Laboratory of Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.), National Institutes of Health, Bethesda, MD; the Department of Pediatrics, Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, İstanbul University Cerrahpaşa Faculty of Medicine (Ö.F.B., T.E.), Istanbul, and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Başkent University (F.O., Z.B., M.G.), and the Pediatric Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.), the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, University Medical Center (H.L.L.), Utrecht, the Netherlands.
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.
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.
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 CD27 deficiency" OR "Autosomal recessive lymphoproliferative disease due to CD27 deficiency" OR "CD27 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined immunodeficiency due to CD27 deficiency" OR "Autosomal recessive lymphoproliferative disease due to CD27 deficiency" OR "CD27 deficiency"
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
Ingested 2026-07-27T10:23:00.692Z