ORPHA:331235
Selective IgM deficiency
Also known as: Selective immunoglobulin M deficiency
Publications
275
74.5th percentile
Trials
1
Interventional, condition-specific
Researchers
1,122
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.
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:0018039
- UMLS:C0154275
Additional Mondo synonyms (2)
selective IgM deficiency disease · selective immunoglobulin M 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.”
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
275 matched papers (156 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?
275
275 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.
275 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).
156 in the last 10 years · high confidence · 74.5th percentile (publications denominator)
Phrase hits: 275 · MeSH hits: 0
Who's working on it?
1,122
Distinct author names in 200 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.
- 01Gupta S16 papers · 2024
Program in Primary Immunodeficiencies, Division of Basic and Clinical Immunology, University of California at Irvine, Irvine, CA 92697, USA.
Papers in Europe PMC - 02de Vries E7 papers · 2025
Tranzo, Tilburg University, Tilburg, The Netherlands; Laboratory for Medical Microbiology and Immunology, Elisabeth-Tweesteden Hospital, Tilburg, The Netherlands.
Papers in Europe PMC - 03Agrawal S5 papers · 2024
Program in Primary Immunodeficiencies, Division of Basic and Clinical Immunology, University of California at Irvine, Irvine, CA 92697, USA.
Papers in Europe PMC - 04Janssen LMA5 papers · 2022
Department of Pediatrics, Amalia Children's Hospital, Nijmegen, Netherlands.
Papers in Europe PMC - 05Baumgarth N4 papers · 2024
Center for Comparative Medicine, University of California, Davis, Davis, CA 95616; Graduate Group in Immunology, University of California, Davis, Davis, CA 95616; Microbiology Graduate Group, University of California, Davis, Davis, CA 95616; Department of Pathology, Microbiology, and Immunology, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616 nbaumgarth@ucdavis.edu.
Papers in Europe PMC - 06Castagnoli R4 papers · 2025
Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.
Papers in Europe PMC - 07Cunningham-Rundles C4 papers · 2020
Department of Medicine, Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1089, New York, NY 10029, USA; Department of Pediatrics, Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1089, New York, NY 10029, USA. Electronic address: charlotte.cunningham-rundles@mssm.edu.
Papers in Europe PMC - 08Di Leo A4 papers · 2017
Section of Gastroenterology, Department of Emergency and Organ Transplantation, University of Bari, Italy.
Papers in Europe PMC - 09Ierardi E4 papers · 2017
Section of Gastroenterology, Department of Emergency and Organ Transplantation, University of Bari, Italy.
Papers in Europe PMC - 10Lewandowicz-Uszyńska A4 papers · 2022
Department of Clinical Immunology and Paediatrics, Provincial Hospital J. Gromkowski, 51-149 Wroclaw, Poland.
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).
high 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.
"Selective IgM deficiency" OR "Selective immunoglobulin M deficiency" OR "selective IgM deficiency disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Selective IgM deficiency" OR "Selective immunoglobulin M deficiency" OR "selective IgM deficiency disease"
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T14:10:19.925Z