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ORPHA:228000

Idiopathic CD4 lymphocytopenia

low confidenceDisorder

Publications

1,145

Trials

2

Interventional, condition-specific

Researchers

1,228

Distinct authors in sample

Gene link

UNC119

Limited

Readiness

5/6

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.

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — UNC119

  2. LiteraturePresent

    1,145 matched papers (648 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Immunodeficiency; Decreased total T cell count; Bronchiectasis) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. recombinant human interleukin-7 fused to a hybrid crystallisable fragment region of a human antibody- Source

  6. 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)

14

Associated phenotypes · MONDO:0014226

  • Immunodeficiency
  • Decreased total T cell count
  • Bronchiectasis
  • Nasal polyposis
  • Bronchiolitis obliterans organizing pneumonia

Showing 5 of 14 — 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA recombinant human interleukin-7 fused to a hybrid crystallisable fragment region of a human antibody-Treatment of idiopathic CD4 lymphocytopenia · 22/05/2017 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0014226

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,145

1,145 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,145 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).

648 in the last 10 years · low confidence

Phrase hits: 414 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Kumar D10 papers · 2024

    Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.

    Papers in Europe PMC
  2. 02
    Sereti 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
  3. 03
    Lisco A6 papers · 2026

    Laboratory of Immunoregulation, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  4. 04
    Meena DS6 papers · 2024

    Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.

    Papers in Europe PMC
  5. 05
    Holland SM5 papers · 2025

    Laboratory of Clinical Immunology and Microbiology, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  6. 06
    Sheikh 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
  7. 07
    Bohra GK4 papers · 2024

    Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.

    Papers in Europe PMC
  8. 08
    Garg MK4 papers · 2024

    Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.

    Papers in Europe PMC
  9. 09
    Nakamichi K4 papers · 2025

    Department of Virology 1, National Institute of Infectious Diseases.

    Papers in Europe PMC
  10. 10
    Anderson M3 papers · 2026

    National Institutes of Health , Bethesda, Maryland

    Papers in Europe PMC

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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

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

Open the complete matched 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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Idiopathic CD4 lymphocytopenia — 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.

("Idiopathic CD4 lymphocytopenia" OR "immunodeficiency type 13") OR ("UNC119" OR "UNC119 syndrome" OR "UNC119-related")

Run this search on Europe PMC

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

"Idiopathic CD4 lymphocytopenia" OR "immunodeficiency type 13"

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: 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
  • Publication count (1145) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:00:57.118Z