ORPHA:696881
Common variable immunodeficiency phenotype due to CD19/CD81 deficiency
Also known as: CD19 deficiency · CVID phenotype due to CD19/CD81 deficiency · Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency
Publications
181
Trials
0
Interventional, condition-specific
Researchers
1,053
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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
181 matched papers (85 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
181
181 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=3967) is 59.
181 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).
85 in the last 10 years · low confidence
Phrase hits: 181 · MeSH hits: 0
Who's working on it?
1,053
Distinct author names in 181 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.
- 01Tedder TF23 papers · 2016
Department of Immunology, Duke University Medical Center, Durham, North Carolina, USA.
Papers in Europe PMC - 02Fujimoto M15 papers · 2016
Department of Dermatology, Faculty of Medicine, University of Tsukuba, 1-1-1, Tennohdai, Tsukuba 305-8575, Ibaraki, Japan.
Papers in Europe PMC - 03Sato S14 papers · 2016
Department of Immunology, Duke University Medical Center, Durham, NC 27710, USA.
Papers in Europe PMC - 04Cunningham-Rundles C13 papers · 2025
Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Papers in Europe PMC - 05Hasegawa M8 papers · 2013
Department of Dermatology, Kanazawa University Graduate School of Medical Science, Japan.
Papers in Europe PMC - 06Casanova JL7 papers · 2022
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 07Komura K7 papers · 2024
Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Papers in Europe PMC - 08Conley ME6 papers · 2016
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Papers in Europe PMC - 09Franco JL6 papers · 2020
Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia.
Papers in Europe PMC - 10Ochs HD6 papers · 2020
Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.
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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).
Uncertain / not reviewed (5)
- isrctn·ISRCTN68248063·Recruiting·Trial of mycophenolate for persistent symptoms of hypothyroidism
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN17901467·Recruiting·Safety and feasibility of CD19 CAR-T cells in adults with recurrent and hard-to-treat B cell blood cancers
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13069630·No longer recruiting·Obinutuzumab compared with rituximab for treating ANCA-associated vasculitis
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12458940·No longer recruiting·Gene therapy in children with mucopolysaccharidosis II (MPSII) consented below the age of 22 months
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13751862·No longer recruiting·Assessment of venetoclax in combination with Ibrutinib in patients with Chronic Lymphocytic Leukaemia
skipped — LLM skipped (--skip-llm)
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 Common variable immunodeficiency phenotype due to CD19/CD81 deficiency — check Associations / patient organisations on that page.
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.
"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency" OR "CD19 deficiency" OR "CVID phenotype due to CD19/CD81 deficiency" OR "Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency" OR "Common variable immunodeficiency phenotype due to cluster of the differentiation 19/cluster or differentiation 81 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency" OR "CD19 deficiency" OR "CVID phenotype due to CD19/CD81 deficiency" OR "Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency" OR "Common variable immunodeficiency phenotype due to cluster of the differentiation 19/cluster or differentiation 81 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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T20:45:12.150Z