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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
74
54.3th percentile
Trials
0
Interventional, condition-specific
Researchers
601
Distinct authors in sample
Gene link
SH2D1A
Definitive
Readiness
2/6
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.”
2/6 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
74 matched papers (53 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 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)
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?
74
74 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=5449) is 41.
74 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).
53 in the last 10 years · medium confidence · 54.3th percentile (publications denominator)
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 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"
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" OR "SH2D1A"
Recall-expansion terms: SH2D1A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T18:13:07.115Z