RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:331235

Selective IgM deficiency

high confidenceDisorder

Also known as: Selective immunoglobulin M deficiency

Publications

275

64th percentile

Trials

1

Interventional, condition-specific

Researchers

1,122

Distinct authors in sample

Gene link

—

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    275 matched papers (156 in last 10 years) Source

  3. Phenotype characterisedPresent

    64 HPO annotations (e.g. Growth delay; Recurrent urinary tract infections; Nontuberculous mycobacterial pulmonary infection) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

64

Associated phenotypes · MONDO:0018039

  • Growth delay
  • Recurrent urinary tract infections
  • Nontuberculous mycobacterial pulmonary infection
  • Pulmonary tuberculosis
  • Rheumatoid arthritis

Showing 5 of 64 — 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?

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=3967) is 59.

275 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).

156 in the last 10 years · high confidence · 64th percentile (publications denominator)

Phrase hits: 275 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Gupta 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
  2. 02
    de 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
  3. 03
    Agrawal 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
  4. 04
    Janssen LMA5 papers · 2022

    Department of Pediatrics, Amalia Children's Hospital, Nijmegen, Netherlands.

    Papers in Europe PMC
  5. 05
    Baumgarth 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
  6. 06
    Castagnoli R4 papers · 2025

    Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy.

    Papers in Europe PMC
  7. 07
    Cunningham-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
  8. 08
    Di Leo A4 papers · 2017

    Section of Gastroenterology, Department of Emergency and Organ Transplantation, University of Bari, Italy.

    Papers in Europe PMC
  9. 09
    Ierardi E4 papers · 2017

    Section of Gastroenterology, Department of Emergency and Organ Transplantation, University of Bari, Italy.

    Papers in Europe PMC
  10. 10
    Lewandowicz-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 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).

high 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Selective IgM deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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