ORPHA:538934
X-linked lymphoproliferative disease due to XIAP deficiency
Also known as: XIAP deficiency syndrome · XLP2 · X-linked lymphoproliferative syndrome type 2
Publications
533
Trials
11
Interventional, condition-specific
Researchers
1,352
Distinct authors in sample
Gene link
XIAP
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent , hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010385
- MeSH:C564469
- OMIM:300635
- UMLS:C1845076
- NCIT:C126295
Additional Mondo synonyms (4)
XIAP deficiency · XIAP deficiency/XLPs · lymphoproliferative syndrome, X-linked, 2, X-linked recessive · lymphoproliferative syndrome, X-linked, type 2
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
Strong — XIAP
- LiteraturePresent
533 matched papers (394 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
11 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?
Yes — we know a specific gene responsible (XIAP).
GenCC classification: Strong.
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?
533
533 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=5449) is 41.
533 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).
394 in the last 10 years · low confidence
Phrase hits: 533 · MeSH hits: 0
Who's working on it?
1,352
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.
- 01Kanegane H18 papers · 2026
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. hkanegane.ped@tmd.ac.jp.
Papers in Europe PMC - 02Marsh RA8 papers · 2025
Division of Bone Marrow Transplantation and Immune Deficiency, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Papers in Europe PMC - 03Arai K7 papers · 2026
Division of Gastroenterology, Center for Pediatric Inflammatory Bowel Disease, National Center for Child Health and Development, Tokyo, Japan.
Papers in Europe PMC - 04Booth C7 papers · 2025
Department of Paediatric Immunology, Great Ormond Street Hospital, London, United Kingdom.
Papers in Europe PMC - 05Hoshino A7 papers · 2026
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Papers in Europe PMC - 06Latour S7 papers · 2022
Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM UMR 1163, Paris, France.
Papers in Europe PMC - 07Morio T7 papers · 2025
Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Papers in Europe PMC - 08Imai K6 papers · 2023
Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Papers in Europe PMC - 09Speckmann C6 papers · 2023
Universitatsklinikum Freiburg Medizinische Universitatsklinik, Freiburg im Breisgau, Baden-Württemberg, Germany.
Papers in Europe PMC - 10Takagi M6 papers · 2026
Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
11
interventional trials for this specific condition
11 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
11 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.1th percentile).
low confidence · 92.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
11 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07433621·RECRUITING·Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency
Conditions: XIAP Deficiency·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.
"X-linked lymphoproliferative disease due to XIAP deficiency" OR "XIAP deficiency syndrome" OR "X-linked lymphoproliferative syndrome type 2" OR "XIAP deficiency" OR "XIAP deficiency/XLPs" OR "lymphoproliferative syndrome, X-linked, 2, X-linked recessive" OR "lymphoproliferative syndrome, X-linked, type 2"
MeSH descriptor terms unioned into the query: Lymphoproliferative Syndrome, X-Linked, 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked lymphoproliferative disease due to XIAP deficiency" OR "XIAP deficiency syndrome" OR "X-linked lymphoproliferative syndrome type 2" OR "XIAP deficiency" OR "XIAP deficiency/XLPs" OR "lymphoproliferative syndrome, X-linked, 2, X-linked recessive" OR "lymphoproliferative syndrome, X-linked, type 2" OR "Lymphoproliferative Syndrome, X-Linked, 2" OR "XIAP"
Recall-expansion terms: XIAP
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 11 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XLP2
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
- Publication count (533) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T18:13:20.508Z