ORPHA:317473
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
Also known as: CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency
Publications
15
30.9th percentile
Trials
1
Interventional, condition-specific
Researchers
145
Distinct authors in sample
Gene link
IKZF1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with loss of serum immunoglobulins and B cells.
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:0014810
- OMIM:616873
- UMLS:C4225173
Additional Mondo synonyms (7)
CVID13 · Cid due to IKAROS deficiency · IKZF1 syndrome with combined immunodeficiency · combined immunodeficiency due to IKAROS deficiency · immunodeficiency, common variable, 13 · immunodeficiency, common variable, type 13 · syndrome with combined immunodeficiency caused by mutation in IKZF1
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — IKZF1
- LiteraturePresent
15 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (IKZF1).
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?
15
15 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.
15 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: 15 · MeSH hits: 0
Who's working on it?
145
Distinct author names in 15 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Germenis AE2 papers · 2024
Department of Immunology and Histocompatibility, Faculty of Medicine, University of Thessaly, 41500 Larissa, Greece.
Papers in Europe PMC - 02Speletas M2 papers · 2024
Department of Immunology and Histocompatibility, Faculty of Medicine, University of Thessaly, 41500 Larissa, Greece.
Papers in Europe PMC - 03A Bastarache L1 paper · 2024
Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA 37203.
Papers in Europe PMC - 04Abraham RS1 paper · 2025
Nationwide Children's Hospital, Columbus, Ohio. Electronic address: Roshini.Abraham@nationwidechildrens.org.
Papers in Europe PMC - 05Al-Kouatly HB1 paper · 2021
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Papers in Europe PMC - 06
- 07Altiparmak MR1 paper · 2005Papers in Europe PMC
- 08Antonakos N1 paper · 2024
4th Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, 15772 Athens, Greece.
Papers in Europe PMC - 09Arboleda VA1 paper · 2024
Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
Papers in Europe PMC - 10Aukrust P1 paper · 2019
Research Institute of Internal Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 33 trials are registered for common variable immunodeficiency, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06220487·RECRUITING·A Single-arm, Open-label Study of Olverembatinib, CD3/CD19 Bispecific T-cell Engager, and Chidamide in Patients With Newly Diagnosed Ph+ALL
Conditions: Acute Lymphoblastic Leukemia · Philadelphia Chromosome · Philadelphia-Positive ALL · Adult ALL·Matched via recall expansion
Broader category: common variable immunodeficiency
33
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04339777·RECRUITING·Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity
Conditions: Lymphoproliferative Disorders · Autoimmune Lymphoproliferative · Immune System Diseases · Common Variable Immunodeficiency·Matched via name phrase
- NCT07284641·RECRUITING·Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
Conditions: Common Variable Immunodeficiency (CVID) · Primary Immune Regulatory Disorder · Immune Dysregulation · DiGeorge Syndrome·Matched via name phrase
- NCT04925375·RECRUITING·Abatacept for the Treatment of Common Variable Immunodeficiency With Interstitial Lung Disease
Conditions: Interstitial Lung Disease · Common Variable Immunodeficiency·Matched via name phrase
- NCT02579967·RECRUITING·Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies
Conditions: Primary T-cell Immunodeficiency Disorders · Common Variable Immunodeficiency · Immune System Diseases · Autoimmune Lymphoproliferative·Matched via name phrase
- NCT07255157·NOT YET RECRUITING·Peripheral Helper T-cells in Common Variable ImmunoDeficiency
Conditions: Common Variable Immunodeficiency·Matched via name phrase
- NCT05193552·RECRUITING·Usage of Spirometry in Managing IgG Therapy in CVID With Airway Disease
Conditions: Common Variable Immunodeficiency·Matched via name phrase
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.
"Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency" OR "CVID phenotype due to IKAROS functional haploinsufficiency" OR "Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency" OR "CVID13" OR "Cid due to IKAROS deficiency" OR "IKZF1 syndrome with combined immunodeficiency" OR "combined immunodeficiency due to IKAROS deficiency" OR "immunodeficiency, common variable, 13" OR "immunodeficiency, common variable, type 13" OR "syndrome with combined immunodeficiency caused by mutation in IKZF1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency" OR "CVID phenotype due to IKAROS functional haploinsufficiency" OR "Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency" OR "CVID13" OR "Cid due to IKAROS deficiency" OR "IKZF1 syndrome with combined immunodeficiency" OR "combined immunodeficiency due to IKAROS deficiency" OR "immunodeficiency, common variable, 13" OR "immunodeficiency, common variable, type 13" OR "syndrome with combined immunodeficiency caused by mutation in IKZF1" OR "IKZF1"
Recall-expansion terms: IKZF1
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"common variable immunodeficiency"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T13:16:37.140Z