X-Linked Lymphoproliferative Disease Type 2 With Activation of Hemophagocytic Lymphohistiocytosis Secondary to Epstein-Barr Virus Infection
Bibliographic record
Abstract
Hemophagocytic lymphohistiocytosis (HLH) is a rare yet potentially life-threatening syndrome. It is best described as uncontrolled immune system activation leading to hemophagocytosis. Our case report aims to present a practical approach, discuss the challenges in the diagnosis and management of HLH, and to shed light on the X-linked lymphoproliferative disease type 2 (XLP-2) gene, STXBP2 gene (as a carrier), and Epstein-Barr virus (EBV) infection in relation to HLH. This is a 2-year-8-month-old Saudi boy, who presented to the emergency department with fever for more than 7 days, not associated with any other major complaints. During the first couple of days of admission, primary results showed hyperferritinemia, low fibrinogen, anemia, high inflammatory markers, high D-dimer, and increasing liver enzymes and triglycerides. The patient fulfilled the diagnostic criteria of HLH on the third day of admission. Further investigations revealed a genetic mutation in XLP-2 gene, STXBP2 gene (as a carrier) and EBV infection causing HLH. HLH-94 protocol was used for management. The patient had an excellent clinical outcome, unexpectedly, by only using dexamethasone, with complete remission and no recurrence up to date. HLH is not frequently encountered in daily practice. However, it can be fatal. This case report describes a unique case of XLP-2, STXBP2 carrier with extreme EBV infection and activation of HLH, who was successfully brought into remission by partial application of HLH-94 protocol and careful clinical and laboratory monitoring. The diagnosis and management of HLH can be challenging. However, a reasonable clinical judgment can improve the outcomes. Int J Clin Pediatr. 2024;13(1):26-33 doi: https://doi.org/10.14740/ijcp525
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".