RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:538963

Combined immunodeficiency due to ITK deficiency

medium confidenceDisorder

Also known as: Autosomal recessive lymphoproliferative disease due to ITK deficiency · ITK deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

394

72.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,511

Distinct authors in sample

Gene link

ITK

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and , accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

ITK lymphoproliferative syndrome · LPFS1 · lymphoproliferative syndrome 1 · lymphoproliferative syndrome caused by mutation in ITK · lymphoproliferative syndrome type 1

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — ITK

  2. LiteraturePresent

    394 matched papers (254 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Pleural effusion; Persistent EBV viremia; Recurrent infections) 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 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?

Yes — we know a specific gene responsible (ITK).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

26

Associated phenotypes · MONDO:0013081

  • Pleural effusion
  • Persistent EBV viremia
  • Recurrent infections
  • Lymphadenopathy
  • Splenomegaly

Showing 5 of 26 — 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?

394

394 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.

394 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).

254 in the last 10 years · medium confidence · 72.1th percentile (publications denominator)

Phrase hits: 386 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,511

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
    Schwartzberg PL11 papers · 2024

    Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.

    Papers in Europe PMC
  2. 02
    Borkhardt A9 papers · 2018

    Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Düsseldorf, Düsseldorf, 40225, Germany.

    Papers in Europe PMC
  3. 03
    Kanegane H9 papers · 2026

    Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan. kanegane@med.u-toyama.ac.jp

    Papers in Europe PMC
  4. 04
    August A8 papers · 2024

    Department of Microbiology and Immunology, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA.

    Papers in Europe PMC
  5. 05
    Casanova JL7 papers · 2025

    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States; Howard Hughes Medical Institute, New York, NY, United States.

    Papers in Europe PMC
  6. 06
    Bustamante J6 papers · 2025

    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

    Papers in Europe PMC
  7. 07
    Huang W6 papers · 2024

    Department of Pathobiological Sciences, School of Veterinary Medicine, Louisiana State University, Baton Rouge, LA 70803, USA.

    Papers in Europe PMC
  8. 08
    Latour S6 papers · 2023

    Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Paris, France.

    Papers in Europe PMC
  9. 09
    Bienemann K5 papers · 2015

    Department of Paediatric Oncology, Haematology and Clinical Immunology, Center for Child and Adolescent Health, Heinrich Heine University, Düsseldorf, Germany.

    Papers in Europe PMC
  10. 10
    Jouanguy E5 papers · 2025

    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

    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 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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Combined immunodeficiency due to ITK deficiency — 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.

("Combined immunodeficiency due to ITK deficiency" OR "Autosomal recessive lymphoproliferative disease due to ITK deficiency" OR "ITK deficiency" OR "ITK lymphoproliferative syndrome" OR "LPFS1" OR "lymphoproliferative syndrome 1" OR "lymphoproliferative syndrome caused by mutation in ITK" OR "lymphoproliferative syndrome type 1") OR (MESH:"Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1") OR ("ITK syndrome" OR "ITK-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1

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

"Combined immunodeficiency due to ITK deficiency" OR "Autosomal recessive lymphoproliferative disease due to ITK deficiency" OR "ITK deficiency" OR "ITK lymphoproliferative syndrome" OR "LPFS1" OR "lymphoproliferative syndrome 1" OR "lymphoproliferative syndrome caused by mutation in ITK" OR "lymphoproliferative syndrome type 1" OR "Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1"

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

Query health: suspect — strategies attempted: phrase, mesh; 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 (394) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T18:13:43.561Z