RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:83471

T-cell immunodeficiency with thymic aplasia

high confidenceDisorder

Also known as: Isolated aplasia/hypoplasia of the thymus · Isolated congenital athymia · Isolated congenital thymic aplasia/hypoplasia · Isolated thymic defect due to thymic aplasia/hypoplasia · Nezelof syndrome

Publications

385

62.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,235

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary immunodeficiency with or X-linked inheritance, characterized by thymic aplasia in the absence of other abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and .

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)

Nezelof's syndrome · T-lymphocyte 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

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

    385 matched papers (143 in last 10 years) Source

  3. Phenotype characterisedPresent

    51 HPO annotations (e.g. Aplasia of the thymus; Decreased total T cell count; Emphysema) 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 trialPartial

    None under the specific name; 4 for broader category T-cell immunodeficiency

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)

51

Associated phenotypes · MONDO:0009451

  • Aplasia of the thymus
  • Decreased total T cell count
  • Emphysema
  • Decreased total lymphocyte count
  • Eczematoid dermatitis

Showing 5 of 51 — 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?

385

385 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.

385 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).

143 in the last 10 years · high confidence · 62.6th percentile (publications denominator)

Phrase hits: 364 · MeSH hits: 21

Open Europe PMC search

Who's working on it?

1,235

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.

  1. 01
    Li J5 papers · 2025

    Department of Surgery, University of Michigan Health Systems, Ann Arbor, Michigan.

    Papers in Europe PMC
  2. 02
    Zhang Y5 papers · 2025

    Department of Psychiatry and Biobehavioral Sciences, Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles (UCLA), Los Angeles, Los Angeles, California, United States of America.

    Papers in Europe PMC
  3. 03
    Cunha BA4 papers · 2010

    Infectious Disease Division, Winthrop-University Hospital, Mineola, New York 11501, USA.

    Papers in Europe PMC
  4. 04
    Gierke R4 papers · 2023
    Papers in Europe PMC
  5. 05
    Kobayashi M4 papers · 2023
    Papers in Europe PMC
  6. 06
    Pilishvili T4 papers · 2023
    Papers in Europe PMC
  7. 07
    Campos-Outcalt D3 papers · 2023
    Papers in Europe PMC
  8. 08
    Chen M3 papers · 2023

    Department of Urology, Southeast University Zhongda Hospital, Nanjing, Jiangsu, China njxbseu@seu.edu.cn wenchaoli@seu.edu.cn zdx1980@hnu.edu.cn jsh0836@hotmail.com mingchen0712@seu.edu.cn.

    Papers in Europe PMC
  9. 09
    Chen S3 papers · 2024

    Department of Urology, Southeast University Zhongda Hospital, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  10. 10
    Chen Y3 papers · 2026

    Department of Thoracic Oncology, State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, Sichuan University, Chengdu 610041, China.

    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). 4 trials are registered for T-cell immunodeficiency, 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.

4 interventional trials matched T-cell immunodeficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: T-cell immunodeficiency

4

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

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 T-cell immunodeficiency with thymic aplasia — 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.

"T-cell immunodeficiency with thymic aplasia" OR "Isolated aplasia/hypoplasia of the thymus" OR "Isolated aplasia/hypoplasia of thymus" OR "Isolated congenital athymia" OR "Isolated congenital thymic aplasia/hypoplasia" OR "Isolated thymic defect due to thymic aplasia/hypoplasia" OR "Nezelof syndrome" OR "Nezelof's syndrome" OR "T-lymphocyte deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Thymic aplasia

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

"T-cell immunodeficiency with thymic aplasia" OR "Isolated aplasia/hypoplasia of the thymus" OR "Isolated aplasia/hypoplasia of thymus" OR "Isolated congenital athymia" OR "Isolated congenital thymic aplasia/hypoplasia" OR "Isolated thymic defect due to thymic aplasia/hypoplasia" OR "Nezelof syndrome" OR "Nezelof's syndrome" OR "T-lymphocyte deficiency" OR "Thymic aplasia"

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

Parent-category trials query:

"T-cell immunodeficiency"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 2026-07-27T02:37:51.607Z