ORPHA:228000
Idiopathic CD4 lymphocytopenia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
414
79.5th percentile
Trials
2
Interventional, condition-specific
Researchers
1,228
Distinct authors in sample
Gene link
UNC119
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.
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:0014226
- OMIM:615518
- UMLS:C3809768
Additional Mondo synonyms (1)
immunodeficiency type 13
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 identifiedPresent
Limited — UNC119
- LiteraturePresent
414 matched papers (211 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
2 matched on ClinicalTrials.gov (1 recruiting in sample)
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?
Possibly — only limited evidence so far for UNC119.
GenCC classification: Limited.
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?
414
414 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.
414 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).
211 in the last 10 years · high confidence · 79.5th percentile (publications denominator)
Phrase hits: 414 · MeSH hits: 0
Who's working on it?
1,228
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.
- 01Kumar D10 papers · 2024
Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.
Papers in Europe PMC - 02Sereti I9 papers · 2026
Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
Papers in Europe PMC - 03Lisco A6 papers · 2026
Laboratory of Immunoregulation, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 04Meena DS6 papers · 2024
Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.
Papers in Europe PMC - 05Holland SM5 papers · 2025
Laboratory of Clinical Immunology and Microbiology, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 06Sheikh V5 papers · 2023
Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
Papers in Europe PMC - 07Bohra GK4 papers · 2024
Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.
Papers in Europe PMC - 08Garg MK4 papers · 2024
Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.
Papers in Europe PMC - 09Nakamichi K4 papers · 2025
Department of Virology 1, National Institute of Infectious Diseases.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT02015013·RECRUITING·Hematopoietic Stem Cell Mobilization in Idiopathic CD4 Lymphocytopenia Patients and Healthy Controls for the Study of T Cell Maturation and Trafficking in Murine Models
Conditions: Idiopathic CD4-Positive · T-Lymphocytopenia·Matched via name phrase
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT00867269·RECRUITING·Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ Lymphocytopenia
Conditions: Idiopathic CD4+ Lymphocytopenia · Cryptococcal Meningitis · Warts·Matched via name phrase
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.
"Idiopathic CD4 lymphocytopenia" OR "immunodeficiency type 13"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Idiopathic CD4 lymphocytopenia" OR "immunodeficiency type 13" OR "UNC119"
Recall-expansion terms: UNC119
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: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T10:00:57.118Z