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
Publications
6,807
Trials
0
Interventional, condition-specific
Researchers
1,159
Distinct authors in sample
Gene link
PLCG2
Strong
Readiness
3/6
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.”
3/6 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
6,807 matched papers (4,390 in last 10 years) Source
- Phenotype characterisedPresent
15 HPO annotations (e.g. Asthma; Dermatographic urticaria; Vitiligo) Source
- 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?
Yes — we know a specific gene responsible (PLCG2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
15
Associated phenotypes · MONDO:0013766
- Asthma
- Dermatographic urticaria
- Vitiligo
- Recurrent sinopulmonary infections
- Cold urticaria
Showing 5 of 15 — 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?
6,807
6,807 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.
6,807 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).
4,390 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 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 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 PLCG2-associated antibody deficiency and immune dysregulation — 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.
("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" OR "PLCG2 syndrome" OR "PLCG2-related")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"
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
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 (6807) 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