MCID: HMP002
MIFTS: 54

Hemophagocytic Lymphohistiocytosis

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis 12 74 15 37
Lymphohistiocytosis, Hemophagocytic 43 71
Familial Hemophagocytic Lymphocytosis 71
Lymphohistiocytosis Hemophagocytic 54
Haemophagocytic Syndrome 12
Hemophagocytic Syndrome 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0050120
MeSH 43 D051359
NCIt 49 C34792
ICD10 32 D76.1
UMLS 71 C0024291 C0272199 C3887558

Summaries for Hemophagocytic Lymphohistiocytosis

Disease Ontology : 12 A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, also known as lymphohistiocytosis, hemophagocytic, is related to hemophagocytic lymphohistiocytosis, familial, 2 and hemophagocytic lymphohistiocytosis, familial, 5, and has symptoms including seizures, ataxia and hemiplegia. An important gene associated with Hemophagocytic Lymphohistiocytosis is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Allograft rejection and NF-kappaB Signaling. The drugs Pegaspargase and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and liver, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 74 Hemophagocytic lymphohistiocytosis, also known as haemophagocytic lymphohistiocytosis (British... more...

Related Diseases for Hemophagocytic Lymphohistiocytosis

Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial, 1 Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytic Lymphohistiocytosis, Familial, 2 Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytic Lymphohistiocytosis, Familial, 5 Secondary Hemophagocytic Lymphohistiocytosis
Primary Hemophagocytic Lymphohistiocytosis

Diseases related to Hemophagocytic Lymphohistiocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 600)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 2 35.3 UNC13D STX11 PRF1
2 hemophagocytic lymphohistiocytosis, familial, 5 35.3 STXBP2 STX11
3 hemophagocytic lymphohistiocytosis, familial, 3 35.0 UNC13D UNC13B STX11 RAB27A
4 hemophagocytic lymphohistiocytosis, familial, 1 34.9 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
5 primary hemophagocytic lymphohistiocytosis 34.7 UNC13D STX11 RAB27A PRF1
6 hemophagocytic lymphohistiocytosis, familial, 4 33.9 UNC13D UNC13B STXBP2 STX11 SNAP23 RAB27A
7 macrophage activation syndrome 33.4 UNC13D RAB27A PRF1 IL18
8 lymphoproliferative syndrome 2 33.0 XIAP STXBP2 SH2D1A CD27
9 lymphoproliferative syndrome, x-linked, 1 32.9 XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
10 lymphoproliferative syndrome 1 32.3 XIAP UNC13D STXBP2 STX11 SH2D1A PRF1
11 lymphoproliferative syndrome, x-linked, 2 32.2 XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
12 griscelli syndrome 31.7 UNC13D UNC13B STXBP2 STX11 SH2D1A RAB27A
13 griscelli syndrome, type 2 31.7 UNC13D UNC13B STXBP2 STX11 SH2D1A RAB27A
14 visceral leishmaniasis 31.5 IL18 IL10 IFNG
15 autoimmune disease 31.4 PRF1 IL2RA IL18 IL10 IFNG
16 graft-versus-host disease 31.4 IL10 IFNG GZMB
17 leishmaniasis 31.3 IL18 IL10 IFNG GZMB
18 juvenile rheumatoid arthritis 31.3 IL2RA IL18 IL10 IFNG
19 scrub typhus 31.3 IL18 IL10 IFNG
20 pancytopenia 31.3 XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
21 chickenpox 31.2 IL10 IFNG CD27
22 acute graft versus host disease 31.2 IL2RA IL18 IL10 IFNG
23 dengue hemorrhagic fever 31.1 IL18 IL10 IFNG
24 lymphadenitis 31.1 IL2RA IL18 IL10 IFNG
25 chronic graft versus host disease 31.0 IL2RA IL10 IFNG
26 lymphoproliferative syndrome 31.0 XIAP UNC13D SH2D1A PRF1 IL2RA IL10
27 chronic active epstein-barr virus infection 31.0 IL10 IFNG
28 rheumatic disease 30.9 IL2RA IL18 IL10 IFNG
29 brucellosis 30.8 IL2RA IL18 IL10 IFNG
30 lymphopenia 30.8 IL2RA IL18 IL10 IFNG
31 aspergillosis 30.8 IL18 IL10 IFNG
32 sarcoidosis 1 30.7 IL2RA IL18 IFNG CD27
33 myocarditis 30.7 PRF1 IL18 IL10 IFNG
34 lepromatous leprosy 30.7 IL18 IL10 IFNG
35 leptospirosis 30.7 IL18 IL10 IFNG
36 immune deficiency disease 30.7 SH2D1A RAB27A IL2RA IL18 IL10 IFNG
37 chlamydia 30.6 IL18 IL10 IFNG
38 pneumonia 30.5 PRF1 IL18 IL10 IFNG
39 polyradiculoneuropathy 30.5 PRF1 IL10 IFNG
40 candidiasis 30.5 SH2D1A IL10 IFNG
41 pulmonary tuberculosis 30.5 IL2RA IL18 IL10 IFNG
42 myeloma, multiple 30.5 XIAP PRF1 IL10 IFNG CD27
43 hermansky-pudlak syndrome 30.4 STX11 RAB27A LYST LAMP1 AP3B1
44 melioidosis 30.4 IL18 IL10 IFNG
45 aplastic anemia 30.4 SH2D1A PRF1 IL2RA IL18 IL10 IFNG
46 dysgammaglobulinemia 30.4 XIAP UNC13D STXBP2 STX11 SH2D1A
47 lymphoma, non-hodgkin, familial 30.4 XIAP SH2D1A PRF1 IL2RA IL10 GZMB
48 nasal cavity lymphoma 30.4 PRF1 GZMB
49 proteasome-associated autoinflammatory syndrome 1 30.4 IL18 IL10 IFNG
50 rubella 30.3 IL2RA IL10 IFNG

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis:



Diseases related to Hemophagocytic Lymphohistiocytosis

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis:


seizures, ataxia, hemiplegia, icterus, bulging fontanelle

GenomeRNAi Phenotypes related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 GZMB IL10 IL18 IL2RA XIAP
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CD27 GZMB IL10 IL18 IL2RA UNC13B

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.2 AP3B1 CD27 IFNG IL10 IL18 IL2RA
2 cellular MP:0005384 10.11 AP3B1 CD27 IFNG IL10 IL18 LAMP1
3 immune system MP:0005387 10.1 AP3B1 CD27 IFNG IL10 IL18 IL2RA
4 integument MP:0010771 9.81 AP3B1 IFNG IL10 IL18 LAMP1 LYST
5 no phenotypic analysis MP:0003012 9.5 AP3B1 IFNG IL10 LYST SNAP23 STX11
6 respiratory system MP:0005388 9.17 AP3B1 IFNG IL10 IL2RA LYST RAB27A

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

Drugs for Hemophagocytic Lymphohistiocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pegaspargase Approved, Investigational Phase 3 130167-69-0
2
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
3
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
4
Lenalidomide Approved Phase 2, Phase 3 191732-72-6 216326
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7 Hydrocortisone hemisuccinate Phase 3
8 Hydrocortisone-17-butyrate Phase 3
9 Hydrocortisone 17-butyrate 21-propionate Phase 3
10 Angiogenesis Inhibitors Phase 2, Phase 3
11 Antibodies, Monoclonal Phase 2, Phase 3
12 Immunoglobulins Phase 2, Phase 3
13 Antibodies Phase 2, Phase 3
14 interferons Phase 2, Phase 3
15 Interferon-gamma Phase 2, Phase 3
16 Alkylating Agents Phase 2, Phase 3
17 Immunosuppressive Agents Phase 2, Phase 3
18 Immunologic Factors Phase 2, Phase 3
19 Thymoglobulin Phase 2, Phase 3
20
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
21
Etoposide Approved Phase 2 33419-42-0 36462
22
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
23
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
24
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
25
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
26
leucovorin Approved Phase 2 58-05-9 6006 143
27
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
28
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
29
Mesna Approved, Investigational Phase 2 3375-50-6 598
30
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
31
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
32
Hydroxyurea Approved Phase 2 127-07-1 3657
33
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
34
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
35
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
36
rituximab Approved Phase 2 174722-31-7 10201696
37
alemtuzumab Approved, Investigational Phase 2 216503-57-0
38
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
39
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
40
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
41
Treosulfan Investigational Phase 2 299-75-2 9296
42 Interleukin-2 Phase 1, Phase 2
43 Analgesics, Non-Narcotic Phase 1, Phase 2
44 Anti-Retroviral Agents Phase 1, Phase 2
45 Analgesics Phase 1, Phase 2
46 Anti-HIV Agents Phase 1, Phase 2
47 Rho(D) Immune Globulin Phase 2
48 Immunoglobulins, Intravenous Phase 2
49 gamma-Globulins Phase 2
50 Topoisomerase Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Unknown status NCT02862054 Phase 2, Phase 3
2 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Unknown status NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
3 A Randomized Controlled Trial of L-DEP as an Initial Treatment for Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis Unknown status NCT02912702 Phase 3 Pegaspargase;doxorubicin hydrochloride liposome injection;etoposide;methylprednisolone;Etoposide;dexamethasone
4 Hemophagocytic Lymphohistiocytosis Unknown status NCT00334672 Phase 3 busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
5 HLH-2004 Treatment Protocol Completed NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
6 DEP-ruxolitinib Regimen as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis Recruiting NCT03533790 Phase 3 DEP-Ru
7 A Prospective Study on the Modified DEP Regimen Induction Therapy in Lymphoma Induced Hemophagocytic Lymphohistiocytosis Recruiting NCT04077905 Phase 3 Pegylated liposomal doxorubicin;Etoposide;Methylprednisolone
8 Clinical Study of Different Doses of Ruxolitinib as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis Recruiting NCT04120090 Phase 3 low dose ruxolitinib;high dose ruxolitinib
9 An Open-label, Single Arm, Multicenter Study to Broaden Access to Emapalumab, an Anti-Interferon Gamma (Anti-IFNγ) Monoclonal Antibody, and to Assess Its Efficacy, Safety, Impact on Quality of Life, and Long-term Outcome in Pediatric Patients With Primary Hemophagocytic Lymphohistiocytosis Recruiting NCT03312751 Phase 3 Emapalumab
10 A Clinical Trial of Programmed Cell Death Protein 1(PD1) Antibody and Lenalidomide as a Treatment for Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis or Chronic Active EBV Infection(CAEBV) Recruiting NCT04084626 Phase 2, Phase 3 PD1 antibody;lenalidomide
11 Open-label Extension Study With Tadekinig Alfa (r-hIL-18BP) to Monitor Safety and Tolerability in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency Recruiting NCT03512314 Phase 3 Tadekinig alfa
12 A Phase 2/3, Open-label, Single Arm, Multicentre Study to Assess Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Multiple Administrations of NI-0501, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Paediatric Patients With Primary Haemophagocytic Lymphohistiocytosis Active, not recruiting NCT01818492 Phase 2, Phase 3
13 A Randomized Controlled Trial of Etoposide in the First-line Treatment of Adult Epstein-barr Virus Associated Hemophagocytic Lymphohistiocytosis Not yet recruiting NCT03742115 Phase 3 Etoposide;Dexamethasone;Etoposide;IVIG
14 A Phase 2/3, Open-label, Single Arm, Multicenter Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Emapalumab in Adult Patients With Hemophagocytic Lymphohistiocytosis Not yet recruiting NCT03985423 Phase 2, Phase 3 Emapalumab-Lzsg
15 In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
16 Safety and Efficiency Study of Low-dose IL-2 Treatment in Macrophage Activation Syndrome Unknown status NCT02569463 Phase 1, Phase 2 Interleukin-2
17 An Open Label Phase II Pilot Study of Hybrid ImmunoTherapy(ATG/Dexamethasone/Etoposide) for Hemophagocytic LymphoHistiocytosis:HIT-HLH Completed NCT01104025 Phase 2 ATG, rabbit;Etoposide;Methotrexate;hydrocortisone;Dexamethasone
18 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Immunologic or Histiocytic Disorders Using a Non-Myeloablative Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
19 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
20 Cytokine Blockade With Tocilizumab in Patients With Cytokine Release Syndrome and Hemophagocytic Lymphohistiocytosis Recruiting NCT02007239 Phase 2 tocilizumab
21 Ruxolitinib Combined With Dexamethasone for Pediatric Refractory and Secondary Hemophagocytic Lymphohistiocytosis Recruiting NCT03795909 Phase 1, Phase 2 Ruxolitinib;Dexamethasone
22 First Line Treatment of Familiar Lymphohistiocytosis by Alemtuzumab (CAMPATH®) Recruiting NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
23 CD-34 Selection for Ex-vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Receiving Intensive Conditioning Recruiting NCT00368355 Phase 2 Ara-C;Cyclophosphamide
24 Alemtuzumab or Tocilizumab in Combination With Etoposide and Dexamethasone for the Treatment of Adult Patients With Hemophagocytic Lymphohistiocytosis Recruiting NCT02385110 Phase 2 Alemtuzumab;Etoposide;Dexamethasone;Methotrexate;Tocilizumab
25 A Pilot, Open-label, Single Arm, Multicenter Study to Evaluate Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Administrations of NI-0501, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Patients With Systemic Juvenile Idiopathic Arthritis (sJIA) Developing Macrophage Activation Syndrome/Secondary HLH (MAS/sHLH) Recruiting NCT03311854 Phase 2 NI-0501
26 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
27 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
28 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplant for Malignant Disease Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
29 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
30 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
31 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
32 A Prospective, Single-arm, Open-label, Phase 2 Study to Evaluate Efficacy and Safety of DA-EPOCH Regimen for Non-Hodgkin's Lymphoma With Hemophagocytic Lymphohistiocytosis Active, not recruiting NCT01818908 Phase 2 DA-EPOCH
33 Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Active, not recruiting NCT02400463 Phase 2 Ruxolitinib
34 Hematopoietic Cell Transplantation for Treatment of Patients With Primary Immunodeficiencies and Other Nonmalignant Inherited Disorders Using Low-Dose TBI and Fludarabine With or Without Campath® Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
35 Administration of Haploidentical Donor T Cells Transduced With the Inducible Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
36 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
37 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
38 CASPALLO: A Phase I Study Evaluating the Use of Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene After Haploidentical Stem Cell Transplantation Active, not recruiting NCT00710892 Phase 1
39 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
40 The Formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics Unknown status NCT02113917
41 Comparison of Predictive Ability of New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
42 Hemophagocytosis in Critically Ill Adult Patients With Cytopenias Unknown status NCT01913938
43 Intensive Care Unit and Secondary and Primary Immune Deficiency Unknown status NCT02888535
44 Transfusion-related Epstein-Barr Virus (EBV) Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients: a Multicenter Prospective Cohort Study (TREASuRE Study) Unknown status NCT02505789
45 sCD163 & CD19 as Candidate Biomarkers in Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) - A Study of sCD163 in the Cerebrospinal Fluid Unknown status NCT02271724
46 sCD163 as a Potential Biomarker in Guillain- Barré Syndrome Unknown status NCT02582853
47 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319
48 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943
49 Ceftriaxone in Non-neutropenic Fever Completed NCT01225718
50 Role of the IL-2 Inducible Tcell Kinase in EBV-HLH and EBV+ Hodgkin's Lymphoma Completed NCT01490801

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hemophagocytic Lymphohistiocytosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hemophagocytic Lymphohistiocytosis:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Hemophagocytic Lymphohistiocytosis:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905

Cochrane evidence based reviews: lymphohistiocytosis, hemophagocytic

Genetic Tests for Hemophagocytic Lymphohistiocytosis

Anatomical Context for Hemophagocytic Lymphohistiocytosis

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

40
T Cells, Bone, Liver, Bone Marrow, B Cells, Monocytes, Nk Cells

Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 2438)
# Title Authors PMID Year
1
Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. 54 61
20092789 2009
2
[The early diagnosis and clinical analysis of 57 cases of acquired hemophagocytic lymphohistiocytosis]. 54 61
19576122 2009
3
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). 54 61
18991284 2008
4
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. 54 61
18311812 2008
5
Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. 54 61
17606450 2007
6
Hemophagocytic lymphohistiocytosis and related disorders. 54 61
17088644 2006
7
Prolonged course of familial hemophagocytic lymphohistiocytosis. 54 61
17164654 2006
8
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. 54 61
16860143 2006
9
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 54 61
16278825 2006
10
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 54 61
15755897 2005
11
Herpes simplex virus 2-associated hemophagocytic lymphohistiocytosis in a pregnant patient. 54 61
15863596 2005
12
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 54 61
12229880 2002
13
Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. 54 61
11571516 2001
14
Interleukin-18 in hemophagocytic lymphohistiocytosis. 54 61
11699209 2001
15
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. 54 61
11159547 2001
16
Soluble interleukin-2 receptor: a useful prognostic factor for patients with hemophagocytic lymphohistiocytosis. 54 61
8541568 1995
17
Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19. 61
31976148 2020
18
Successful remission induction in refractory familial hemophagocytic lymphohistiocytosis with ruxolitinib as a bridge to hematopoietic stem cell transplantation. 61
31762142 2020
19
[Analysis of Human Herpes Viruses-Activated Infection Spectra in Patients with Various Immunodeficiencies]. 61
32027295 2020
20
X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic. 61
31754776 2020
21
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience. 61
32009323 2020
22
Hemophagocytic Lymphohistiocytosis in a Patient with Rheumatoid Arthritis on Pembrolizumab for Lung Adenocarcinoma. 61
32009093 2020
23
Genetic Deficiency of Interferon-γ Reveals Interferon-γ-Independent Manifestations of Murine Hemophagocytic Lymphohistiocytosis. 61
31400073 2020
24
Clinical diagnosis and treatment recommendations for immune checkpoint inhibitor-related hematological adverse events. 61
32017466 2020
25
Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome. 61
31978013 2020
26
Japanese Spotted Fever with Hemophagocytic Lymphohistiocytosis. 61
31645532 2020
27
Ruxolitinib treatment for SR-aGVHD in patients with EBV-HLH undergoing allo-HSCT. 61
31879790 2020
28
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2. 61
31820501 2020
29
Macrophage Activation Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in Childhood Inflammatory Disorders: Diagnosis and Management. 61
31732958 2020
30
Benefit of Anakinra in Treating Pediatric Secondary Hemophagocytic Lymphohistiocytosis. 61
31513353 2020
31
Hemophagocytic lymphohistiocytosis in pregnancy: a case report and review of the literature. 61
31215279 2020
32
To "Lump" or to "Split" in Macrophage Activation Syndrome and Hemophagocytic Lymphohistiocytosis. 61
31524337 2020
33
GATA2 mutation underlies hemophagocytic lymphohistiocytosis in an adult with primary cytomegalovirus infection. 61
31350183 2020
34
The role of allogeneic hematopoietic stem cell transplantation and Epstein-Barr virus infection on the treatment for child primary hemophagocytic lymphohistiocytosis patients with X-linked lymphoproliferative disease: A rare case report and family survey study. 61
32011062 2020
35
Macrophage activation syndrome in pediatrics. 61
32017214 2020
36
Platelet-derived alpha-granules are associated with inflammation in patients with NK/T-cell lymphoma-associated hemophagocytic syndrome. 61
31739215 2020
37
Plasma Filtration Versus Centrifugation in Pediatric Therapeutic Plasma Exchange: Should the Diagnosis Define the Method?†. 61
31066994 2020
38
Efficacy of plasma exchange with a high dose of acyclovir for disseminated varicella infection. 61
31520251 2020
39
Severe dengue and liver involvement: an overview and review of the literature. 61
31971031 2020
40
Adverse Events of Novel Therapies for Hematologic Malignancies: What Emergency Physicians Should Know. 61
31561995 2020
41
Dose-adjusted EPOCH regimen as first-line treatment for non-Hodgkin lymphoma-associated hemophagocytic lymphohistiocytosis: a single-arm, open-label, phase II trial. 61
31073069 2020
42
Hemophagocytic lymphohistiocytosis complicating invasive pneumococcal disease: a pediatric case report. 61
31931763 2020
43
Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in a small child: A case report. 61
32011461 2020
44
Toxoplasma-induced hemophagocytic lymphohistiocytosis after haploidentical allogeneic stem cell transplantation. 61
31895492 2020
45
Adult haemophagocytic lymphohistiocytosis: a Review. 61
31943120 2020
46
Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease. 61
31994322 2020
47
Adult secondary hemophagocytic lymphohistiocytosis with cerebromeningeal symptoms early after allogeneic hematopoietic stem cell transplantation. 61
31933488 2020
48
Cerebral Spinal Fluid Hemophagocytosis in Lupus-Induced Hemophagocytic Lymphohistiocytosis: A Clinical Image. 61
31972734 2020
49
Secondary Hemophagocytic Lymphohistiocytosis secondary to Dengue and leptospirosis : A rare case report. 61
31979873 2020
50
Serum soluble VSIG4 as a surrogate marker for the diagnosis of lymphoma-associated hemophagocytic lymphohistiocytosis. 61
31960419 2020

Variations for Hemophagocytic Lymphohistiocytosis

Expression for Hemophagocytic Lymphohistiocytosis

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis.

Pathways for Hemophagocytic Lymphohistiocytosis

Pathways related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 PRF1 IL2RA IL10 IFNG GZMB
2 12.35 SH2D1A IL2RA IL10 IFNG GZMB
3
Show member pathways
12.33 SH2D1A PRF1 IFNG GZMB
4 12.05 LAMP1 IL18 IL10 IFNG
5 11.73 LAMP1 IL2RA IL10 IFNG
6
Show member pathways
11.68 IL2RA IL18 IFNG GZMB
7 11.54 IL18 IL10 IFNG
8 11.35 IL18 IL10 IFNG
9 11.3 IL2RA IL10 IFNG
10
Show member pathways
11.24 PRF1 IL2RA IFNG GZMB
11 11.15 IL18 IL10 IFNG
12 10.92 IL2RA IL18 IL10 IFNG GZMB
13
Show member pathways
10.9 PRF1 IL2RA IFNG
14 10.75 UNC13D RAB27A
15 10.7 PRF1 IL2RA IL18 IFNG
16 10.62 UNC13D RAB27A

GO Terms for Hemophagocytic Lymphohistiocytosis

Cellular components related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 specific granule GO:0042581 9.26 STXBP2 SNAP23
2 azurophil granule GO:0042582 9.16 STXBP2 SNAP23
3 Weibel-Palade body GO:0033093 8.96 UNC13D RAB27A
4 cytolytic granule GO:0044194 8.8 STXBP2 PRF1 LAMP1

Biological processes related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.91 UNC13D STXBP2 SNAP23 RAB27A LAMP1
2 apoptotic process GO:0006915 9.91 XIAP PRF1 IL2RA IFNG GZMB CD27
3 vesicle-mediated transport GO:0016192 9.84 STXBP2 STX11 RAB27A AP3B1
4 defense response to virus GO:0051607 9.76 UNC13D PRF1 LYST IFNG
5 regulation of regulatory T cell differentiation GO:0045589 9.56 IL2RA IFNG
6 synaptic vesicle priming GO:0016082 9.55 UNC13B SNAP23
7 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.52 STX11 SNAP23
8 positive regulation of MHC class II biosynthetic process GO:0045348 9.49 IL10 IFNG
9 regulation of mast cell degranulation GO:0043304 9.48 UNC13D STXBP2
10 positive regulation of killing of cells of other organism GO:0051712 9.4 PRF1 IFNG
11 natural killer cell degranulation GO:0043320 9.37 UNC13D RAB27A
12 granzyme-mediated apoptotic signaling pathway GO:0008626 9.32 LAMP1 GZMB
13 positive regulation of regulated secretory pathway GO:1903307 9.26 UNC13D RAB27A
14 type 2 immune response GO:0042092 9.16 IL18 IL10
15 natural killer cell mediated cytotoxicity GO:0042267 9.13 LYST IL18 GZMB
16 exocytosis GO:0006887 9.1 UNC13D UNC13B STXBP2 STX11 SNAP23 RAB27A

Molecular functions related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 XIAP UNC13D UNC13B STXBP2 STX11 SNAP23

Sources for Hemophagocytic Lymphohistiocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....