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
51.9th percentile
Trials
1
Interventional, condition-specific
Researchers
744
Distinct authors in sample
Gene link
—
Readiness
3/6
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.”
3/6 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 characterisedPresent
19 HPO annotations (e.g. Decreased specific anti-polysaccharide antibody concentration; Decreased specific antibody response to unconjugated polysaccharide vaccine; Decreased specific antibody response to protein-conjugated polysaccharide vaccine) 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 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)
19
Associated phenotypes · MONDO:0019093
- Decreased specific anti-polysaccharide antibody concentration
- Decreased specific antibody response to unconjugated polysaccharide vaccine
- Decreased specific antibody response to protein-conjugated polysaccharide vaccine
- Complete or near-complete absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine
- Recurrent bacterial upper respiratory tract infections
Showing 5 of 19 — 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?
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=3967) is 59.
105 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).
68 in the last 10 years · medium confidence · 51.9th 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 11 September 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
medium confidence · 80.1th 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.
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 Immunodeficiency due to selective anti-polysaccharide antibody 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.
"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