2019
A Rare Case of Hemophagocytic Lymphohistiocytosis in an Adult with Diffuse Large B‐Cell Lymphoma
Mbachi C, Igwilo R, Flores E, Chukwujindu E, Mba B. A Rare Case of Hemophagocytic Lymphohistiocytosis in an Adult with Diffuse Large B‐Cell Lymphoma. Case Reports In Hematology 2019, 2019: 7530698. PMID: 31360558, PMCID: PMC6642749, DOI: 10.1155/2019/7530698.Peer-Reviewed Case Reports and Technical NotesDiffuse large B-cell lymphomaLarge B-cell lymphomaB-cell lymphomaHemophagocytic lymphohistiocytosisAcute respiratory distress syndromeDiffuse alveolar hemorrhageRespiratory distress syndromeBone marrow analysisAlveolar hemorrhageDistress syndromeHistological diagnosisMarrow analysisClinical stateRare caseIndian femalesWeight lossLymphohistiocytosisFurther reviewLymphomaHemophagocytosisHemorrhageSyndromePneumococcal Bacteremia Complicated by Hemophagocytic Lymphohistiocytosis
Howard F, Sankey C. Pneumococcal Bacteremia Complicated by Hemophagocytic Lymphohistiocytosis. Journal Of General Internal Medicine 2019, 34: 1653-1657. PMID: 31011972, PMCID: PMC6667527, DOI: 10.1007/s11606-019-05001-x.Peer-Reviewed Case Reports and Technical NotesConceptsHemophagocytic lymphohistiocytosisStreptococcal infectionOccult sinusitisPneumococcal bacteremiaRecurrent pneumococcal infectionsS. pneumoniae bacteremiaSevere streptococcal infectionsIntroduction of vaccinesEffective antibiotic treatmentGeneral medical practitionersPneumoniae bacteremiaIntravascular coagulationPneumococcal infectionAntibiotic treatmentPyogenic diseaseStreptococcus pneumoniaeBacteremiaInfectionCausative agentLymphohistiocytosisSuch predispositionSinusitisMedical practitionersIllness scriptsSepsis
2016
Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman
Barmettler S, Nowak RJ, Parker T, Price C. Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman. BMJ Case Reports 2016, 2016: bcr2015213698. PMID: 26903364, PMCID: PMC4769444, DOI: 10.1136/bcr-2015-213698.Peer-Reviewed Original ResearchConceptsFamilial haemophagocytic lymphohistiocytosisSoluble CD25 levelHaemophagocytic lymphohistiocytosisCD25 levelsDiagnosis of HLHHigh clinical suspicionInitiation of treatmentIntrathecal chemotherapyClinical suspicionCytotoxic cellsEarly recognitionDiagnostic criteriaPatientsOlder ageHomozygous mutationLymphohistiocytosisWomenCoughPancytopaeniaChemotherapyFeverPerforinMortalitySuspicionDiagnosis
2015
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry
Cetica V, Sieni E, Pende D, Danesino C, De Fusco C, Locatelli F, Micalizzi C, Putti M, Biondi A, Fagioli F, Moretta L, Griffiths G, Luzzatto L, Aricò M. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. Journal Of Allergy And Clinical Immunology 2015, 137: 188-196.e4. PMID: 26342526, PMCID: PMC4699615, DOI: 10.1016/j.jaci.2015.06.048.Peer-Reviewed Original ResearchConceptsFamilial hemophagocytic lymphohistiocytosisHemophagocytic lymphohistiocytosisCases of familial hemophagocytic lymphohistiocytosisBiallelic pathogenic mutationsAffecting mostly childrenYears of experienceLife-threatening diseasePerforin expressionGenes PRF1Gene dosage effectMonoallelic mutationsRare conditionItalian RegistryGenetic abnormalitiesGenetic predispositionGenetic diagnosisPathogenic basisHyperinflammatory featuresPathogenic mutationsPatientsCytotoxicity assayExogenous triggersGenetic factorsLymphohistiocytosisRegistry
2014
A fatal case of primary cutaneous gamma–delta T‐cell lymphoma complicated by HLH and cardiac amyloidosis
Gibson JF, Kapur L, Sokhn J, Xu M, Foss FM. A fatal case of primary cutaneous gamma–delta T‐cell lymphoma complicated by HLH and cardiac amyloidosis. Clinical Case Reports 2014, 3: 34-38. PMID: 25678971, PMCID: PMC4317209, DOI: 10.1002/ccr3.142.Peer-Reviewed Original ResearchGamma-delta T-cell lymphomaT-cell lymphomaHemophagocytic lymphohistiocytosisCardiac amyloidosisPrimary cutaneous gamma-delta T-cell lymphomaCutaneous gamma-delta T-cell lymphomaSyndrome of feverFatal neoplasmMultiorgan failureFatal casesRapid deathRapid deteriorationLymphomaFirst caseAmyloidosisNovel mechanismCytopeniasLymphohistiocytosisPatientsFeverNeoplasmsSyndromeMarrow Assessment for Hemophagocytic Lymphohistiocytosis Demonstrates Poor Correlation With Disease Probability
Ho C, Yao X, Tian L, Li FY, Podoltsev N, Xu ML. Marrow Assessment for Hemophagocytic Lymphohistiocytosis Demonstrates Poor Correlation With Disease Probability. American Journal Of Clinical Pathology 2014, 141: 62-71. PMID: 24343738, DOI: 10.1309/ajcpmd5tjefoovbw.Peer-Reviewed Original ResearchConceptsFindings of hemophagocytosisHemophagocytic lymphohistiocytosisHistologic findingsProbability of HLHSecondary hemophagocytic lymphohistiocytosisCore biopsy specimenCore biopsy specimensDisease probabilityFisher's exact testElevated ferritinClinical suspicionMarrow assessmentHLH groupBiopsy specimenLaboratory criteriaBiopsy specimensMedical recordsHemophagocytosisExact testLymphohistiocytosisPatientsSignificant correlationAspiratesPoor correlationFindings
2010
Alemtuzumab as a bridge to allogeneic SCT in atypical hemophagocytic lymphohistiocytosis
Strout MP, Seropian S, Berliner N. Alemtuzumab as a bridge to allogeneic SCT in atypical hemophagocytic lymphohistiocytosis. Nature Reviews Clinical Oncology 2010, 7: 415-420. PMID: 20404855, DOI: 10.1038/nrclinonc.2010.40.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdultAlemtuzumabAntibodies, MonoclonalAntibodies, Monoclonal, HumanizedAntibodies, NeoplasmAntineoplastic AgentsCombined Modality TherapyFemaleHumansImmunosuppressive AgentsLymphohistiocytosis, HemophagocyticRemission InductionStem Cell TransplantationTransplantation, HomologousTreatment Outcome
2008
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo L, Pende D, Griffiths G, Aricò M. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. Haematologica 2008, 93: 1086-1090. PMID: 18492689, DOI: 10.3324/haematol.12622.Peer-Reviewed Original ResearchConceptsDeep intronic mutationsIntronic mutationSplicing errorsFamilial hemophagocytic lymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis type 3Hemophagocytic lymphohistiocytosisMRNA splicingRegulatory sequencesAberrant splicingImpaired splicingSplicing mutationSplicingAcceptor sitesExon 11Secretory granulesMunc13-4 proteinMolecular defectsMutationsFunctional impactUNC13D mutationsCellular cytotoxicityUNC13DClinical pictureLymphohistiocytosisMunc13
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