ORPHA:70593
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Also known as: SPAD · Selective anti-polysaccharide antibody deficiency · Specific anti-polysaccharide antibody deficiency · Specific polysaccharide antibody deficiency
Publications
105
59.5th percentile
Trials
1
Interventional, condition-specific
Researchers
744
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness.
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:0019093
- UMLS:C5399780
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
105 matched papers (68 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
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
105
105 papers have ever been published on this condition (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.
105 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).
68 in the last 10 years · medium confidence · 59.5th percentile (publications denominator)
Phrase hits: 105 · MeSH hits: 0
Who's working on it?
744
Distinct author names in 105 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.
- 01Burns SO10 papers · 2025
Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; Institute of Immunity and Transplantation, University College London, London, United Kingdom.
Papers in Europe PMC - 02Richter AG9 papers · 2025
Clinical Immunology Service, Institute of Immunology and Immunotherapy, University of Birmingham, UK.
Papers in Europe PMC - 03Savic S9 papers · 2022
Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, United Kingdom; National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine, St James's University Hospital, Leeds, United Kingdom. Electronic address: S.Savic@leeds.ac.uk.
Papers in Europe PMC - 04Shields AM9 papers · 2025
Clinical Immunology Service, Institute of Immunology and Immunotherapy, University of Birmingham, UK.
Papers in Europe PMC - 05
- 06
- 07Patel SY7 papers · 2022
Department of Clinical Immunology, John Radcliffe Hospital, Oxford, UK.
Papers in Europe PMC - 08Batteux F6 papers · 2025
CHU Hôpital Cochin, Laboratoire d'Immunologie Biologique, Plateforme d'Immuno-monitoring Vaccinal, AP-HP, Paris, France.
Papers in Europe PMC - 09
- 10Elcombe S6 papers · 2022
Regional Department of Clinical Immunology & Allergy, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, UK.
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; none in our sample are currently recruiting.
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).
medium 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.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Immunodeficiency due to selective anti-polysaccharide antibody deficiency" OR "Selective anti-polysaccharide antibody deficiency" OR "Specific anti-polysaccharide antibody deficiency" OR "Specific polysaccharide antibody deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Immunodeficiency due to selective anti-polysaccharide antibody deficiency" OR "Selective anti-polysaccharide antibody deficiency" OR "Specific anti-polysaccharide antibody deficiency" OR "Specific polysaccharide antibody deficiency"
Interventional trials matched via: phrase (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 · 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: SPAD
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
Ingested 2026-07-27T01:36:56.787Z