RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:229717

Non-syndromic agammaglobulinemia

high confidenceDisorder

Also known as: Non-syndromic hypogammaglobulinemia

Publications

35

36.5th percentile

Trials

0

Interventional, condition-specific

Researchers

360

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

isolated hypogammaglobulinemia · nonsyndromic agammaglobulinemia

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    35 matched papers (21 in last 10 years) Source

  3. Phenotype characterisedPresent

    207 HPO annotations (e.g. Agammaglobulinemia; Recurrent otitis media; Decreased total B cell count) Source

  4. Animal modelPresent

    11 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 14 for broader category agammaglobulinemia

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)

207

Associated phenotypes · MONDO:0016462

  • Agammaglobulinemia
  • Recurrent otitis media
  • Decreased total B cell count
  • Meningitis
  • Absent circulating B cells

Showing 5 of 207 — open Monarch for the full list.

Animal models (Monarch / Alliance)

11

Model associations linked to this Mondo ID

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?

35

35 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.

35 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).

21 in the last 10 years · high confidence · 36.5th percentile (publications denominator)

Phrase hits: 35 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

360

Distinct author names in 35 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.

  1. 01
    Dorval G2 papers · 2025

    Pediatric Nephrology, Reference Center for Nephrotic Syndrome in Children and Adults, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Université Paris Cité, Paris, France.

    Papers in Europe PMC
  2. 02
    Faravelli F2 papers · 2025

    Genomics and Clinical Genetics, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.

    Papers in Europe PMC
  3. 03
    Grimbacher B2 papers · 2017

    Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  4. 04
    Abbott RJ1 paper · 2012
    Papers in Europe PMC
  5. 05
    Adelstein S1 paper · 2012
    Papers in Europe PMC
  6. 06
    Adrover E1 paper · 2025

    Cátedra de Genética. Departamento de Microbiología, Inmunología, Biotecnología y Genética. Facultad de Farmacia y Bioquímica. Universidad de Buenos Aires. Hospital de Clínicas "José de San Martín", Buenos Aires, Argentina.

    Papers in Europe PMC
  7. 07
    Aguiar-Oliveira MH1 paper · 2013
    Papers in Europe PMC
  8. 08
    Ailal F1 paper · 2026

    Laboratory of Clinical Immunology, Infection and Autoimmunity (LICIA). Faculty of Medicine and Pharmacy. Hassan II University., Casablanca, Morocco.

    Papers in Europe PMC
  9. 09
    Alanazi YA1 paper · 2025

    Department of Pediatrics, College of Medicine, Majmaah University, Majmaah, Saudi Arabia.

    Papers in Europe PMC
  10. 10
    Alhalabi L1 paper · 2021

    Department of Cardiovascular Medicine Mayo Clinic Rochester MN.

    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). 14 trials are registered for agammaglobulinemia, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

14 interventional trials matched agammaglobulinemia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: agammaglobulinemia

14

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Non-syndromic agammaglobulinemia — 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.

"Non-syndromic agammaglobulinemia" OR "Non-syndromic hypogammaglobulinemia" OR "isolated hypogammaglobulinemia" OR "nonsyndromic agammaglobulinemia"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Non-syndromic agammaglobulinemia" OR "Non-syndromic hypogammaglobulinemia" OR "isolated hypogammaglobulinemia" OR "nonsyndromic agammaglobulinemia"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"agammaglobulinemia"

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 2026-07-27T10:11:20.158Z