ORPHA:538931
X-linked lymphoproliferative disease due to SAP deficiency
Also known as: X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency · X-linked lymphoproliferative syndrome type 1 · XLP1 · X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency
Publications
2,328
Trials
0
Interventional, condition-specific
Researchers
601
Distinct authors in sample
Gene link
SH2D1A
Definitive
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 SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and 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:0024551
- OMIM:308240
- UMLS:C5399825
Additional Mondo synonyms (1)
lymphoproliferative syndrome, X-linked, 1, X-linked recessive
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.
- Gene identifiedPresent
Definitive — SH2D1A
- LiteraturePresent
2,328 matched papers (1,456 in last 10 years) Source
- Phenotype characterisedPresent
30 HPO annotations (e.g. Hemophagocytosis; Severe Epstein Barr virus infection; Splenomegaly) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (SH2D1A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
30
Associated phenotypes · MONDO:0024551
- Hemophagocytosis
- Severe Epstein Barr virus infection
- Splenomegaly
- Decreased circulating IgG concentration
- Vasculitis
Showing 5 of 30 — 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?
2,328
2,328 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.
2,328 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).
1,456 in the last 10 years · low confidence
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
601
Distinct author names in 74 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.
- 01Kanegane 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 - 02Yang X5 papers · 2025
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 03Hoshino A4 papers · 2026
Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Institut National de la Sante et de la Recherche Medicale UMR 1163.
Papers in Europe PMC - 04Marsh RA4 papers · 2022
Division of Bone Marrow Transplant and Immune Deficiency and.
Papers in Europe PMC - 05Morio T4 papers · 2026
3Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Yushima 1-5-45, Bunkyo-ku, Tokyo, 113-8519 Japan.
Papers in Europe PMC - 06Wang J4 papers · 2025
Department of Hematology, Peking University Third Hospital, Beijing, China; and.
Papers in Europe PMC - 07Bleesing JJ3 papers · 2022
Division of Bone Marrow Transplantation and Immune Deficiency and.
Papers in Europe PMC - 08Fischer A3 papers · 2020
INSERM UMR1163, Laboratory of Normal and Pathological Homeostasis of the Immune System, Paris, F-75015, France ; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, Paris, F-75015, France ; Immunology and Pediatric Hematology Department, Necker Children's Hospital, AP-HP, Paris, France ; Collège de France, Paris, F-75005, France.
Papers in Europe PMC - 09Latour S3 papers · 2020
Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Institut National de la Santé et de la Recherche Médicale UMR 1163, Imagine Institute, Paris, France.
Papers in Europe PMC - 10Pachlopnik Schmid J3 papers · 2021
Abteilung Immunologie/Hmatologie/KMT Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies, Universitäts-Kinderkliniken Zürich, Steinwiesstr. 75, CH – 8032 Zürich,
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.
low 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 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 X-linked lymphoproliferative disease due to SAP deficiency — check Associations / patient organisations on that page.
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 SAP deficiency" OR "X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency" OR "X-linked lymphoproliferative syndrome type 1" OR "X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency" OR "X-linked lymphoproliferative disease due to SH2D1A deficiency" OR "lymphoproliferative syndrome, X-linked, 1, X-linked recessive") OR ("SH2D1A" OR "SH2D1A syndrome" OR "SH2D1A-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked lymphoproliferative disease due to SAP deficiency" OR "X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency" OR "X-linked lymphoproliferative syndrome type 1" OR "X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency" OR "X-linked lymphoproliferative disease due to SH2D1A deficiency" OR "lymphoproliferative syndrome, X-linked, 1, X-linked recessive"
Study-type breakdown: 0 interventional · 0 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
Synonyms dropped by stoplist: XLP1
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 (2328) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T18:13:07.115Z