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ORPHA:317473

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

low confidenceDisorder

Also known as: CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency

Publications

7,735

Trials

0

Interventional, condition-specific

Researchers

145

Distinct authors in sample

Gene link

IKZF1

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — IKZF1

  2. LiteraturePresent

    7,735 matched papers (6,195 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Decreased circulating immunoglobulin concentration; Pancytopenia; Polyhydramnios) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 33 for broader category common variable immunodeficiency

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)

10

Associated phenotypes · MONDO:0014810

  • Decreased circulating immunoglobulin concentration
  • Pancytopenia
  • Polyhydramnios
  • Combined immunodeficiency
  • Decreased total B cell count

Showing 5 of 10 — open Monarch for the full list.

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?

7,735

7,735 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,735 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).

6,195 in the last 10 years · low confidence

Phrase hits: 15 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

145

Distinct author names in 15 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.

  1. 01
    Germenis AE2 papers · 2024

    Department of Immunology and Histocompatibility, Faculty of Medicine, University of Thessaly, 41500 Larissa, Greece.

    Papers in Europe PMC
  2. 02
    Speletas M2 papers · 2024

    Department of Immunology and Histocompatibility, Faculty of Medicine, University of Thessaly, 41500 Larissa, Greece.

    Papers in Europe PMC
  3. 03
    A Bastarache L1 paper · 2024

    Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA 37203.

    Papers in Europe PMC
  4. 04
    Abraham RS1 paper · 2025

    Nationwide Children's Hospital, Columbus, Ohio. Electronic address: Roshini.Abraham@nationwidechildrens.org.

    Papers in Europe PMC
  5. 05
    Al-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
  6. 06
    Aliu E1 paper · 2025

    Milton S. Hershey Medical Center, Hershey, Pa.

    Papers in Europe PMC
  7. 07
    Altiparmak MR1 paper · 2005
    Papers in Europe PMC
  8. 08
    Antonakos N1 paper · 2024

    4th Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, 15772 Athens, Greece.

    Papers in Europe PMC
  9. 09
    Arboleda VA1 paper · 2024

    Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.

    Papers in Europe PMC
  10. 10
    Aukrust 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?

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). 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 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.

33 interventional trials matched common variable immunodeficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.

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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 IKAROS functional haploinsufficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("IKZF1" OR "IKZF1 syndrome" OR "IKZF1-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"common variable immunodeficiency"

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
  • Publication count (7735) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:16:37.140Z