ORPHA:183675
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Also known as: IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency · Kappa-chain deficiency · Selective IgG subclass deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,938
Trials
0
Interventional, condition-specific
Researchers
993
Distinct authors in sample
Gene link
IGKC
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013576
- MeSH:C564131
- OMIM:614102
- UMLS:C3279824
Additional Mondo synonyms (3)
isolated IgG subclass deficiency · kappa-chain deficiency · recurrent infections associated with rare immunoglobulin isotypes deficiency
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
Moderate — IGKC
- LiteraturePresent
2,938 matched papers (2,434 in last 10 years) Source
- Phenotype characterisedPresent
52 HPO annotations (e.g. Diarrhea; Recurrent infections; Absent circulating kappa chain-bearing immunoglobulin) 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?
Probably — there is moderate evidence for IGKC.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
52
Associated phenotypes · MONDO:0013576
- Diarrhea
- Recurrent infections
- Absent circulating kappa chain-bearing immunoglobulin
- Recurrent respiratory infections
- Chronic diarrhea
Showing 5 of 52 — 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?
2,938
2,938 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=3967) is 59.
2,938 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).
2,434 in the last 10 years · low confidence
Phrase hits: 130 · MeSH hits: 0
Who's working on it?
993
Distinct author names in 130 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.
- 01Cunningham-Rundles C8 papers · 2025
Department of Medicine and Pediatrics, Mount Sinai School of Medicine , New York, NY , USA.
Papers in Europe PMC - 02Ochs HD7 papers · 2020
Department of Pediatrics, Seattle Children's Research Institute, University of Washington , Seattle, WA , USA.
Papers in Europe PMC - 03Casanova JL6 papers · 2020
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY , USA ; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes , Paris , France.
Papers in Europe PMC - 04Klein C6 papers · 2025
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich , Munich , Germany.
Papers in Europe PMC - 05Picard C6 papers · 2025
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes , Paris , France ; Centre d'Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP , Paris , France.
Papers in Europe PMC - 06Sullivan KE6 papers · 2025
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 07Al-Herz W5 papers · 2020
Department of Pediatrics, Kuwait University , Kuwait City , Kuwait ; Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital , Kuwait City , Kuwait.
Papers in Europe PMC - 08Bousfiha A5 papers · 2020
Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University , Casablanca , Morocco.
Papers in Europe PMC - 09
- 10Franco JL5 papers · 2020
Group of Primary Immunodeficiencies, University of Antioquia , Medellin , Colombia.
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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)
- isrctn·ISRCTN48328178·Stopped·Inhibiting white blood cell function as a new way to treat coronary heart disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN66618743·No longer recruiting·Intravenous versus subcutaneous immunoglobulin therapy in multifocal motor neuropathy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN25571720·No longer recruiting·Effect of 2 versus 3 pneumococcal conjugate vaccinations Prevnar on nasopharyngeal carriage, transmission and herd immunity; a randomized, controlled study.
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 Recurrent infections associated with rare immunoglobulin isotypes 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.
("Recurrent infections associated with rare immunoglobulin isotypes deficiency" OR "IgG subclass deficiency with IgA subclass deficiency" OR "Isolated IgG subclass deficiency" OR "Kappa-chain deficiency" OR "Selective IgG subclass deficiency") OR (MESH:"Kappa-Chain Deficiency") OR ("IGKC" OR "IGKC syndrome" OR "IGKC-related")MeSH descriptor terms unioned into the query: Kappa-Chain Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Recurrent infections associated with rare immunoglobulin isotypes deficiency" OR "IgG subclass deficiency with IgA subclass deficiency" OR "Isolated IgG subclass deficiency" OR "Kappa-chain deficiency" OR "Selective IgG subclass deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (2938) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T09:07:11.910Z