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Current Opinion in Allergy and Clinical Immunology, ISSN 1528-4050, 12/2006, Volume 6, Issue 6, pp. 410 - 415
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 188 - 196.e4
Journal Article
Medicine, ISSN 0025-7974, 07/2018, Volume 97, Issue 30, p. e11577
Rationale:We describe a novel case of half-brothers suffering from type 2 familial hemophagocytic lymphohistiocytosis (FHL).Patient concerns:A 15-year-old... 
hematopoietic stem-cell transplantation | PRF1 gene | familial hemophagocytic lymphohistiocytosis | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | PERFORIN MUTATIONS
Journal Article
Blood, ISSN 0006-4971, 09/2007, Volume 110, Issue 6, pp. 1906 - 1915
Familial hemophagocytic lymphohistiocytosis (FHL) is typically an early onset, fatal disease characterized by a sepsislike illness with cytopenia,... 
NATURAL-KILLER-CELLS | GRANULE EXOCYTOSIS | IMMUNE-SYSTEM | MEDIATED CYTOTOXICITY | NK CELLS | DENDRITIC CELLS | FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | CLASS-I | PERFORIN GENE-MUTATIONS | INHIBITORY RECEPTORS | HEMATOLOGY | Lymphohistiocytosis, Hemophagocytic - pathology | Pore Forming Cytotoxic Proteins - genetics | Cell Proliferation | Membrane Glycoproteins - metabolism | Homeodomain Proteins - metabolism | Humans | Child, Preschool | Infant | Male | Intracellular Signaling Peptides and Proteins - metabolism | Muscle Proteins - metabolism | Qa-SNARE Proteins - genetics | Adult | Female | Membrane Proteins - metabolism | Lymphohistiocytosis, Hemophagocytic - genetics | Perforin | Intracellular Signaling Peptides and Proteins - genetics | Lymphocytes - metabolism | Pore Forming Cytotoxic Proteins - metabolism | Cytokines - metabolism | LIM Domain Proteins | Membrane Proteins - genetics | Gene Expression Regulation | Lymphocytes - cytology | Transcription Factors - genetics | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Homeodomain Proteins - genetics | Membrane Glycoproteins - genetics | Muscle Proteins - genetics | Transcription Factors - metabolism | Killer Cells, Natural - cytology | Lymphocyte Subsets | Lymphohistiocytosis, Hemophagocytic - metabolism | Qa-SNARE Proteins - metabolism | LIM-Homeodomain Proteins | Killer Cells, Natural - metabolism | Immunobiology
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 12/2018, Volume 77, Issue 12, pp. 1079 - 1084
Abstract Familial hemophagocytic lymphohistiocytosis (HLH) is an immune hyperactivation syndrome caused by mutations in genes associated with cytotoxic T-cell... 
Diagnostic brain biopsy | Familial hemophagocytic lymphohistiocytosis | Inflammatory brain lesion | Perforin | UNC13D | Nonneoplastic | INVOLVEMENT | PRF1 | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | FREQUENCY | SPECTRUM | ONSET
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 02/2010, Volume 54, Issue 2, pp. 299 - 306
Background Post‐transplant outcomes of hemophagocytic lymphohistiocytosis (HLH) patients were analyzed in Japan where Epstein–Barr virus (EBV)‐associated... 
hematopoietic stem cell transplantation | familial hemophagocytic lymphohistiocytosis | Epstein–Barr virus‐associated hemophagocytic lymphohistiocytosis | reduced intensity conditioning | umbilical cord blood transplantation | central nervous system disease | Familial hemophagocytic lymphohistiocytosis | Reduced intensity conditioning | Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis | Hematopoietic stem cell transplantation | Umbilical cord blood transplantation | Central nervous system disease | SYSTEM | UNRELATED DONOR | BONE-MARROW-TRANSPLANTATION | SINGLE-CENTER | CLINICAL-FEATURES | CHILDREN | ACTIVE EBV INFECTION | CORD BLOOD TRANSPLANTATION | ONCOLOGY | LYMPHOPROLIFERATIVE DISEASE | PEDIATRICS | HEMATOLOGY | T-CELLS | Lymphohistiocytosis, Hemophagocytic - etiology | Humans | Japan | Child, Preschool | Hematopoietic Stem Cell Transplantation | Graft Survival | Infant | Male | Treatment Outcome | Cord Blood Stem Cell Transplantation | Lymphohistiocytosis, Hemophagocytic - complications | Central Nervous System Diseases - etiology | Adolescent | Survival Analysis | Lymphohistiocytosis, Hemophagocytic - surgery | Epstein-Barr Virus Infections - complications | Female | Transplantation Conditioning | Child | FHL2 protein | Prognosis | Cord blood | Donors | Complications | stem cell transplantation | Bone marrow transplantation | Histiocytosis | Twins | Lymphocytosis | Survival | Cancer
Journal Article
Journal Article
Haematologica, ISSN 0390-6078, 12/2010, Volume 95, Issue 12, pp. 2080 - 2087
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 09/2018, Volume 142, Issue 3, pp. 904 - 913.e3
Journal Article