ORPHA:169139
Transient hypogammaglobulinemia of infancy
Publications
282
73.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,092
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015698
- UMLS:C0272238
- NCIT:C27071
Additional Mondo synonyms (2)
THI · transient hypogammaglobulinemia of infancy
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
282 matched papers (149 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
282
282 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.
282 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).
149 in the last 10 years · medium confidence · 73.8th percentile (publications denominator)
Phrase hits: 282 · MeSH hits: 0
Who's working on it?
1,092
Distinct author names in 200 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.
- 01Ameratunga R7 papers · 2025
Department of Virology and Immunology, Auckland Hospital , Auckland , New Zealand ; Department of Clinical Immunology, Auckland Hospital , Auckland , New Zealand.
Papers in Europe PMC - 02Aksu G6 papers · 2026
Department of Pediatric Immunology, Faculty of Medicine, Ege University, Bornova, Izmir, Türkiye.
Papers in Europe PMC - 03Woon ST6 papers · 2025
Department of Virology and Immunology, Auckland Hospital , Auckland , New Zealand.
Papers in Europe PMC - 04Karaca NE5 papers · 2026
Department of Pediatric Immunology, Ege University Faculty of Medicine, 35100, Bornova, Izmir, Turkey. neslihanedeer@gmail.com
Papers in Europe PMC - 05Kutukculer N5 papers · 2026
Faculty of Medicine, Ege University, Department of Pediatric Immunology 35100 Bornova, Izmir, Turkey.
Papers in Europe PMC - 06Moschese V5 papers · 2024
Department of Pediatrics, Policlinico Tor Vergata, University of Rome Tor Vergata, Viale Oxford 81, Rome, Italy. moschese@med.uniroma2.it
Papers in Europe PMC - 07Siedlar M5 papers · 2024
Department of Clinical Immunology, Institute of Paediatrics, Jagiellonian University Medical College, Wielicka 265, Cracow, Poland.
Papers in Europe PMC - 08Consolini R4 papers · 2024
Section of Pediatrics Immunology and Rheumatology, Department of Pediatrics, University of Pisa, Pisa, Italy.
Papers in Europe PMC - 09Cunningham-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 - 10Graziani S4 papers · 2024
Pediatric Allergology and Immunology Unit, Policlinico Tor Vergata, University of Tor Vergata, Rome, Italy.
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).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
Broader category transient hypogammaglobulinemia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: transient hypogammaglobulinemia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Transient hypogammaglobulinemia of infancy" OR "Transient hypogammaglobulinemia of the infancy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Transient hypogammaglobulinemia of infancy" OR "Transient hypogammaglobulinemia of the infancy"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"transient hypogammaglobulinemia"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: THI
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 2026-07-27T08:35:35.295Z