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 39 71
Familial Hemophagocytic Lymphocytosis 71
Lymphohistiocytosis Hemophagocytic 54
Haemophagocytic Syndrome 12
Hemophagocytic Syndrome 71


External Ids:

Disease Ontology 12 DOID:0050120
MeSH 43 D051359
NCIt 49 C34792
SNOMED-CT 67 234437005
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, 5 and hemophagocytic lymphohistiocytosis, familial, 1, 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 Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are hematopoietic system and cellular

Wikipedia : 74 Hemophagocytic lymphohistiocytosis (HLH), 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 618)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 5 35.3 STXBP2 STX11
2 hemophagocytic lymphohistiocytosis, familial, 1 34.9 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
3 hemophagocytic lymphohistiocytosis, familial, 2 34.8 UNC13D STXBP2 STX11 SH2D1A PRF1 FHL2
4 hemophagocytic lymphohistiocytosis, familial, 3 34.8 UNC13D UNC13B STX11 SH2D1A RAB27A
5 primary hemophagocytic lymphohistiocytosis 34.5 UNC13D STXBP2 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 32.8 XIAP STXBP2 SH2D1A CD27 AP3B1
9 lymphoproliferative syndrome, x-linked, 1 32.7 XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
10 lymphoproliferative syndrome 1 32.5 XIAP UNC13D STXBP2 STX11 SH2D1A PRF1
11 lymphoproliferative syndrome, x-linked, 2 32.2 XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
12 griscelli syndrome, type 2 32.0 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
13 griscelli syndrome 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 juvenile rheumatoid arthritis 31.3 IL2RA IL18 IL10 IFNG
18 pancytopenia 31.3 XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
19 scrub typhus 31.3 IL18 IL10 IFNG
20 thrombocytopenia 31.2 PRF1 IL18 IL10 IFNG GZMB
21 chickenpox 31.2 IL10 IFNG CD27
22 leishmaniasis 31.2 IL2RA IL18 IL10 IFNG GZMB
23 acute graft versus host disease 31.2 IL2RA IL18 IL10 IFNG
24 pfeiffer syndrome 31.1 SH2D1A PRF1 CD27
25 dengue hemorrhagic fever 31.1 IL18 IL10 IFNG
26 lymphadenitis 31.1 IL2RA IL18 IL10 IFNG
27 lymphoproliferative syndrome 31.0 XIAP UNC13D SH2D1A PRF1 IL2RA IL10
28 lymphoma 31.0 XIAP SH2D1A IL2RA IL10 GZMB CD27
29 chronic graft versus host disease 31.0 IL2RA IL10 IFNG
30 brucellosis 31.0 IL18 IL10 IFNG
31 sarcoidosis 1 30.8 IL2RA IL18 IFNG CD27
32 myocarditis 30.8 PRF1 IL18 IL10 IFNG
33 lymphopenia 30.8 IL2RA IL18 IL10 IFNG
34 hermansky-pudlak syndrome 2 30.7 STXBP2 LYST AP3B1
35 lepromatous leprosy 30.7 IL18 IL10 IFNG
36 leptospirosis 30.7 IL18 IL10 IFNG
37 pulmonary tuberculosis 30.6 IL2RA IL18 IL10 IFNG
38 aspergillosis 30.6 IL18 IL10 IFNG
39 chlamydia 30.6 IL18 IL10 IFNG
40 pneumonia 30.5 PRF1 IL18 IL10 IFNG
41 polyradiculoneuropathy 30.5 PRF1 IL10 IFNG
42 immune deficiency disease 30.5 XIAP SH2D1A RAB27A IL2RA IL18 IL10
43 candidiasis 30.5 SH2D1A IL10 IFNG
44 aplastic anemia 30.5 SH2D1A PRF1 IL2RA IL18 IL10 IFNG
45 melioidosis 30.4 IL18 IL10 IFNG
46 lymphoma, non-hodgkin, familial 30.4 XIAP SH2D1A PRF1 IL2RA IL10 GZMB
47 mycobacterium tuberculosis 1 30.4 PRF1 LAMP1 IL18 IL10 IFNG GZMB
48 proteasome-associated autoinflammatory syndrome 1 30.3 IL18 IL10 IFNG
49 rubella 30.3 IL2RA IL10 IFNG
50 plasmodium falciparum malaria 30.3 IL18 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

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

# 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 10.15 AP3B1 CD27 IFNG IL10 IL18 LAMP1
3 immune system MP:0005387 10.13 AP3B1 CD27 IFNG IL10 IL18 IL2RA
4 integument MP:0010771 9.85 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 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
Lenalidomide Approved Phase 3 191732-72-6 216326
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
6 Hydrocortisone 17-butyrate 21-propionate Phase 3
7 Hydrocortisone hemisuccinate Phase 3
8 Hydrocortisone-17-butyrate Phase 3
9 Angiogenesis Inhibitors Phase 3
10 interferons Phase 2, Phase 3
11 Interferon-gamma Phase 2, Phase 3
12 Antibodies Phase 2, Phase 3
13 Antibodies, Monoclonal Phase 2, Phase 3
14 Immunoglobulins Phase 2, Phase 3
15 Alkylating Agents Phase 2, Phase 3
16 Immunosuppressive Agents Phase 2, Phase 3
17 Immunologic Factors Phase 2, Phase 3
18 Thymoglobulin Phase 2, Phase 3
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
Etoposide Approved Phase 2 33419-42-0 36462
Pegaspargase Approved, Investigational Phase 2 130167-69-0
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
leucovorin Approved Phase 2 58-05-9 6006 143
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
Mesna Approved, Investigational Phase 2 3375-50-6 598
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
Hydroxyurea Approved Phase 2 127-07-1 3657
Gemcitabine Approved Phase 2 95058-81-4 60750
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
rituximab Approved Phase 2 174722-31-7 10201696
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
Treosulfan Investigational Phase 2 299-75-2 9296
42 Analgesics, Non-Narcotic Phase 1, Phase 2
43 Anti-HIV Agents Phase 1, Phase 2
44 Analgesics Phase 1, Phase 2
45 Interleukin-2 Phase 1, Phase 2
46 Anti-Retroviral Agents Phase 1, Phase 2
47 Immunoglobulins, Intravenous Phase 2
48 Rho(D) Immune Globulin Phase 2
49 gamma-Globulins Phase 2
50 Etoposide phosphate Phase 2

Interventional clinical trials:

(show top 50) (show all 77)
# Name Status NCT ID Phase Drugs
1 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Unknown status NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
2 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Unknown status NCT02862054 Phase 2, Phase 3
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 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 Recruiting NCT03985423 Phase 2, Phase 3 Emapalumab-Lzsg
10 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
11 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 3 PD1 antibody;lenalidomide
12 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
13 Tocilizumab to Prevent the Progression of Hypoxemic Respiratory Failure in Hospitalized Non-Critically Ill Patients With COVID-19 Recruiting NCT04356937 Phase 3 Tocilizumab;Placebos
14 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
15 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
16 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
17 Safety and Efficiency Study of Low-dose IL-2 Treatment in Macrophage Activation Syndrome Unknown status NCT02569463 Phase 1, Phase 2 Interleukin-2
18 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
19 Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Completed NCT02400463 Phase 2 Ruxolitinib
20 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 Completed NCT00368355 Phase 2 Ara-C;Cyclophosphamide
21 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)
22 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
23 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® Completed NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
24 Ruxolitinib Combined With Dexamethasone for Pediatric Refractory and Secondary Hemophagocytic Lymphohistiocytosis Recruiting NCT03795909 Phase 1, Phase 2 Ruxolitinib;Dexamethasone
25 First Line Treatment of Familiar Lymphohistiocytosis by Alemtuzumab (CAMPATH®) Recruiting NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
26 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
27 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
28 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
29 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
30 A Phase II Single-Center, Randomized, Open-Label, Safety and Efficacy Study of Etoposide in Patients With COVID-19 Infection Recruiting NCT04356690 Phase 2 Etoposide
31 Effectiveness of Interleukin-6 Receptor Inhibitors in the Management of Patients With Severe SARS-CoV-2 Pneumonia: An Open-Label, Multicenter Sequential and Cluster Randomized Trial Recruiting NCT04322773 Phase 2 RoActemra iv;RoActemra sc;Kevzara sc
32 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
33 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 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
34 Gemcitabine, Pegaspargase, Etoposide, and Dexamethasone (GPED) for Patients With Relapsed/Refractory or Advanced NK/T-cell Lymphoma : a Single Arm,Open-lable,Phase II Study Recruiting NCT04405375 Phase 2 gemcitabin;Pegaspargase;Etoposide;Dexamethasone
35 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
36 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
37 Cytokine Blockade With Tocilizumab in Patients With Cytokine Release Syndrome and Hemophagocytic Lymphohistiocytosis Active, not recruiting NCT02007239 Phase 2 tocilizumab
38 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease Active, not recruiting NCT01966367 Phase 1, Phase 2
39 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) Active, not recruiting NCT03311854 Phase 2 NI-0501
40 A Randomized Placebo-Controlled Safety and Dose-Finding Study for the Use of the IL-6 Inhibitor Clazakizumab in Patients With Life-threatening COVID-19 Infection Not yet recruiting NCT04381052 Phase 2 Clazakizumab
41 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
42 Administration of Haploidentical Donor T Cells Transduced With the Inducible Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
43 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
44 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
45 A Single-arm, Open-label, Phase I Study of TQ05105 Tablets in Subjects With Hemophagocytic Lymphohistiocytosis. Not yet recruiting NCT04326348 Phase 1 TQ05105
46 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
47 The Formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics Unknown status NCT02113917
48 Comparison of Predictive Ability of New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
49 Intensive Care Unit and Secondary and Primary Immune Deficiency Unknown status NCT02888535
50 Transfusion-related Epstein-Barr Virus (EBV) Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients: a Multicenter Prospective Cohort Study (TREASuRE Study) Unknown status NCT02505789

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:

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

Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 2584)
# Title Authors PMID Year
Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. 54 61
20092789 2009
[The early diagnosis and clinical analysis of 57 cases of acquired hemophagocytic lymphohistiocytosis]. 61 54
19576122 2009
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). 54 61
18991284 2008
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. 61 54
18311812 2008
Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. 54 61
17606450 2007
Hemophagocytic lymphohistiocytosis and related disorders. 61 54
17088644 2006
Prolonged course of familial hemophagocytic lymphohistiocytosis. 54 61
17164654 2006
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. 54 61
16860143 2006
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 54 61
16278825 2006
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 61 54
15755897 2005
Herpes simplex virus 2-associated hemophagocytic lymphohistiocytosis in a pregnant patient. 61 54
15863596 2005
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 54 61
12229880 2002
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
Interleukin-18 in hemophagocytic lymphohistiocytosis. 54 61
11699209 2001
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. 61 54
11159547 2001
Soluble interleukin-2 receptor: a useful prognostic factor for patients with hemophagocytic lymphohistiocytosis. 61 54
8541568 1995
Secondary hemophagocytic lymphohistiocytosis, HScore and COVID-19. 61
32474804 2020
Hemophagocytic Lymphohistiocytosis in Children: Clinical Profile and Outcome. 61
32218098 2020
Rheumatologists' perspective on coronavirus disease 19 (COVID-19) and potential therapeutic targets. 61
32277367 2020
Type IV Glycogen Storage Disease Associated With Hemophagocytic Lymphohistiocytosis: A Case Report. 61
31815882 2020
Reply to the letter by Gaetano Loscocco, Secondary hemophagocytic lymphohistiocytosis, HScore and COVID-19. 61
32468178 2020
Possible role of low-dose etoposide therapy for hemophagocytic lymphohistiocytosis by COVID-19. 61
32399895 2020
A Unique Case of a Pediatric Patient With Blastic Plasmacytoid Dendritic Cell Neoplasm, Guillain Barre Syndrome, and Hemophagocytic Lymphohistiocytosis. 61
30933025 2020
A Case of Congenital Anaplastic Large Cell Lymphoma in a Very Preterm Low-Birth Weight Neonate. 61
30830032 2020
Risk of Mortality in Immunocompromised Children With Severe Sepsis and Septic Shock. 61
32301846 2020
Cytokine storm in COVID-19: pathogenesis and overview of anti-inflammatory agents used in treatment. 61
32474885 2020
[Expression and Clinical Significance of Soluble B7-H3 in Patient with Secondary Hemophagocytic Lymphohistiocytosis]. 61
32552973 2020
Dynamics of hematopoiesis is disrupted by impaired hematopoietic microenvironment in a mouse model of hemophagocytic lymphohistiocytosis. 61
32506245 2020
A rare case of diffuse large B-cell lymphoma-associated hemophagocytic lymphohistiocytosis. 61
32507098 2020
Tandem Allogeneic Hematopoietic Stem Cell Transplantation for Salvage Treatment of Acute Myeloid Leukemia Refractory to Induction Chemotherapy: A Case Report. 61
32571713 2020
Visceral Leishmaniasis Associated with Hemophagocytic Lymphohistiocytosis. 61
32495218 2020
CD4/CD8 T-Cell Selection Affects Chimeric Antigen Receptor (CAR) T-Cell Potency and Toxicity: Updated Results From a Phase I Anti-CD22 CAR T-Cell Trial. 61
32286905 2020
JAK/STAT pathway inhibition sensitizes CD8 T cells to dexamethasone-induced apoptosis in hyperinflammation. 61
32530039 2020
Hemophagocytic Lymphohistiocytosis in Renal Transplant Recipients: A 2-Case Report. 61
32389490 2020
Hemophagocytic Lymphohistiocytosis in Critically Ill Patients. 61
31626037 2020
Hemophagocytic lymphohistiocytosis in SARS-CoV-2 infection. 61
32556137 2020
TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis. 61
32285995 2020
Renal Manifestations in Children with Dengue Fever Hospitalized in Pediatric Intensive Care Unit. 61
32557142 2020
Early Use of Blood Purification in Severe Epstein-Barr Virus-Associated Hemophagocytic Syndrome. 61
32430444 2020
[A genetic analysis of children with Epstein-Barr virus-positive hemophagocytic lymphohistiocytosis and its association with T-helper type 1/T-helper type 2 cytokines]. 61
32571462 2020
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
Genetic susceptibility to EBV infection: insights from inborn errors of immunity. 61
32152698 2020
Line-selective macrophage activation with an anti-CD40 antibody drives a hemophagocytic syndrome in mice. 61
32559293 2020
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. 61
32542393 2020
[Clinical features and outcomes of cancer-related versus non-cancer-related sepsis in pediatric intensive care unit]. 61
32521960 2020
Severe cerebral involvement in adult-onset hemophagocytic lymphohistiocytosis. 61
32307298 2020
Prognostic Value of Blood-Based Inflammatory Biomarkers in Secondary Hemophagocytic Lymphohistiocytosis. 61
32495220 2020
Ruxolitinib for the treatment of lymphoma-associated hemophagocytic lymphohistiocytosis: A cautionary tale. 61
31575356 2020
Hodgkin lymphoma-associated hemophagocytic lymphohistiocytosis-a dangerous disease. 61
32500223 2020
Treatment outcomes and prognostic factors for non- malignancy associated secondary hemophagocytic lymphohistiocytosis in children. 61
32517812 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 17)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
4 12.07 LAMP1 IL18 IL10 IFNG
Show member pathways
11.77 IL18 IL10 IFNG
6 11.77 LAMP1 IL2RA IL10 IFNG
Show member pathways
8 11.37 IL18 IL10 IFNG
Show member pathways
10 11.32 IL2RA IL10 IFNG
11 11.18 IL18 IL10 IFNG
Show member pathways
Show member pathways
14 10.92 IL2RA IL18 IL10 IFNG GZMB
15 10.76 UNC13D RAB27A
16 10.7 PRF1 IL2RA IL18 IFNG
17 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 17)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.89 UNC13D STXBP2 SNAP23 RAB27A LAMP1
2 vesicle-mediated transport GO:0016192 9.85 STXBP2 STX11 RAB27A AP3B1
3 apoptotic process GO:0006915 9.8 XIAP PRF1 IL2RA IFNG GZMB CD27
4 defense response to virus GO:0051607 9.78 UNC13D PRF1 LYST IFNG
5 regulation of regulatory T cell differentiation GO:0045589 9.57 IL2RA IFNG
6 synaptic vesicle priming GO:0016082 9.56 UNC13B SNAP23
7 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.54 STX11 SNAP23
8 positive regulation of MHC class II biosynthetic process GO:0045348 9.52 IL10 IFNG
9 regulation of mast cell degranulation GO:0043304 9.51 UNC13D STXBP2
10 positive regulation of killing of cells of other organism GO:0051712 9.46 PRF1 IFNG
11 natural killer cell degranulation GO:0043320 9.43 UNC13D RAB27A
12 type 2 immune response GO:0042092 9.4 IL18 IL10
13 granzyme-mediated apoptotic signaling pathway GO:0008626 9.37 LAMP1 GZMB
14 pigmentation GO:0043473 9.33 RAB27A LYST AP3B1
15 positive regulation of regulated secretory pathway GO:1903307 9.26 UNC13D RAB27A
16 natural killer cell mediated cytotoxicity GO:0042267 9.13 LYST IL18 GZMB
17 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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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