ORPHA:300359
PLCG2-associated antibody deficiency and immune dysregulation
Also known as: FACU · Familial atypical cold urticaria · Familial cold urticaria with common variable immunodeficiency · PLAID
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,055
Trials
0
Interventional, condition-specific
Researchers
1,159
Distinct authors in sample
Gene link
PLCG2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, , immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
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:0013766
- OMIM:614468
- UMLS:C3280914
Additional Mondo synonyms (7)
PLCG2 familial cold autoinflammatory syndrome · familial atypical cold urticaria · familial cold autoinflammatory syndrome 3 · familial cold autoinflammatory syndrome caused by mutation in PLCG2 · familial cold autoinflammatory syndrome type 3 · familial cold urticaria with common variable immunodeficiency · plaid
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 — PLCG2
- LiteraturePresent
2,055 matched papers (1,084 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 (PLCG2).
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?
2,055
2,055 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
2,055 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).
1,084 in the last 10 years · low confidence
Phrase hits: 2,055 · MeSH hits: 0
Who's working on it?
1,159
Distinct author names in 200 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.
- 01Milner JD8 papers · 2025
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 02Chen Y6 papers · 2026
Department of Educational Psychology, College of Education, University of Arizona, 1430 E. 2nd Street, Tucson, AZ 85721, USA.
Papers in Europe PMC - 03Ombrello MJ5 papers · 2025
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 04Xu J5 papers · 2026
Department of Orthopaedics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, 510120, Guangdong, China.
Papers in Europe PMC - 05Gao X4 papers · 2026
Ulm University, Department of Internal Medicine III, Ulm, Germany
Papers in Europe PMC - 06Li C4 papers · 2026
Department of Psychology, University of Virginia, Charlottesville, Virginia 22904.
Papers in Europe PMC - 07Li J4 papers · 2026
Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Papers in Europe PMC - 08Li L4 papers · 2026
Center for Computational Biology and Bioinformatics, School of Medicine, Indiana University, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 09Zhang C4 papers · 2026
Center for Computational Biology and Bioinformatics, School of Medicine, Indiana University, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 10Zhang J4 papers · 2026
College of Information and Control Engineering, Jilin Institute of Chemical Technology, Jilin, China.
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.
low 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.
"PLCG2-associated antibody deficiency and immune dysregulation" OR "Familial atypical cold urticaria" OR "Familial cold urticaria with common variable immunodeficiency" OR "PLAID" OR "PLCG2 familial cold autoinflammatory syndrome" OR "familial cold autoinflammatory syndrome 3" OR "familial cold autoinflammatory syndrome caused by mutation in PLCG2" OR "familial cold autoinflammatory syndrome type 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PLCG2-associated antibody deficiency and immune dysregulation" OR "Familial atypical cold urticaria" OR "Familial cold urticaria with common variable immunodeficiency" OR "PLAID" OR "PLCG2 familial cold autoinflammatory syndrome" OR "familial cold autoinflammatory syndrome 3" OR "familial cold autoinflammatory syndrome caused by mutation in PLCG2" OR "familial cold autoinflammatory syndrome type 3" OR "PLCG2"
Recall-expansion terms: PLCG2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FACU
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (2055) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:40:03.027Z