MCID: HMP002
MIFTS: 67

Hemophagocytic Lymphohistiocytosis

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis 37 12 72 49 14
Familial Hemophagocytic Lymphohistiocytosis 49 24 55 28 51
Hemophagocytic Syndrome 12 24 69
Familial Erythrophagocytic Lymphohistiocytosis 49 24
Familial Hemophagocytic Lymphocytosis 24 69
Lymphohistiocytosis, Hemophagocytic 41 69
Fhl 49 24
Primary Hemophagocytic Hymphohistiocytosis 24
Familial Hemophagocytic Histiocytosis 24
Familial Hemophagocytic Reticulosis 24
Lymphohistiocytosis Hemophagocytic 51
Familial Histiocytic Reticulosis 49
Haemophagocytic Syndrome 12
Familial Hlh 55
Fhlh 24
Hplh 24
Fel 24
Hps 12
Hlh 49

Characteristics:

Orphanet epidemiological data:

55
familial hemophagocytic lymphohistiocytosis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Adolescent,Infancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050120
ICD10 32 D76.1
MeSH 41 D051359
NCIt 46 C34792
SNOMED-CT 64 190958003 234437005
Orphanet 55 ORPHA540
UMLS via Orphanet 70 C0272199
ICD10 via Orphanet 33 D76.1

Summaries for Hemophagocytic Lymphohistiocytosis

NIH Rare Diseases : 49 Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life. Symptoms may include fever, enlarged liver or spleen, cytopenia (decreased number of blood cells), and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired HLH. There are five subtypes of inherited HLH which are designated as familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene. The genetic cause of type 1 is currently unknown. Types 2-5 are caused by mutations in the PRF1 gene, the UNC13D gene, the STX11 gene and the STXBP2 gene, respectively. Treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. When HLH results from an inappropriate immune response to Epstein-Barr virus or another viral illness, it may be due to a separate genetic condition called X-linked lymphoproliferative disease (XLP). XLP is caused by a mutation in the SH2D1A or XIAP gene and is inherited in an X-linked manner. Last updated: 9/11/2017

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis, familial, 4 and hemophagocytic lymphohistiocytosis, familial, 1, and has symptoms including bulging fontanelle, seizures and icterus. An important gene associated with Hemophagocytic Lymphohistiocytosis is PRF1 (Perforin 1), and among its related pathways/superpathways are Allograft rejection and Influenza A. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include t cells, liver and spleen, and related phenotypes are hematopoietic system and immune system

Genetics Home Reference : 24 Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.

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.

Wikipedia : 72 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

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

(show top 50) (show all 257)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 4 34.7 FHL2 RAB27A STX11 STXBP2 UNC13D
2 hemophagocytic lymphohistiocytosis, familial, 1 34.3 PRF1 STXBP2
3 lymphoproliferative syndrome, x-linked, 2 33.1 SH2D1A STXBP2 XIAP
4 macrophage activation syndrome 32.9 PRF1 RAB27A TNF UNC13D
5 griscelli syndrome, type 2 32.7 LYST RAB27A UNC13B UNC13D
6 griscelli syndrome 30.9 LYST RAB27A UNC13D
7 visceral leishmaniasis 30.9 IFNG IL18 TNF
8 cytomegalovirus infection 30.8 IFNG IL2RA TNF
9 chediak-higashi syndrome 30.8 LYST RAB27A UNC13D
10 mycobacterium tuberculosis 1 30.8 IFNG IL18 LAMP1 TNF
11 lymphadenitis 30.7 IFNG IL18 TNF
12 lymphoproliferative syndrome 30.6 IL2RA PRF1 SH2D1A XIAP
13 brucellosis 30.5 IFNG IL18 IL2RA TNF
14 aplastic anemia 30.5 IFNG PRF1 SH2D1A TNF
15 hermansky-pudlak syndrome 2 30.5 AP3B1 LAMP1
16 systemic onset juvenile idiopathic arthritis 30.4 IL18 PRF1 TNF
17 juvenile rheumatoid arthritis 30.3 IL18 IL2RA TNF
18 autoimmune lymphoproliferative syndrome 30.2 IL2RA PRF1 UNC13D
19 leukemia, acute myeloid 30.2 CD5 IFNG TNF XIAP
20 acquired immunodeficiency syndrome 30.2 IFNG IL2RA TNF
21 hemophagocytic lymphohistiocytosis, familial, 3 12.7
22 hemophagocytic lymphohistiocytosis, familial, 2 12.7
23 hemophagocytic lymphohistiocytosis, familial, 5 12.7
24 acquired hemophagocytic lymphohistiocytosis associated with malignant disease 12.1
25 hypoplastic left heart syndrome 12.0
26 hantavirus pulmonary syndrome 12.0
27 pancreatitis, hereditary 11.7
28 lymphoproliferative syndrome, x-linked, 1 11.6
29 extrinsic allergic alveolitis 11.6
30 langerhans cell histiocytosis 11.5
31 lymphoproliferative syndrome 1 11.3
32 lymphoproliferative syndrome 2 11.3
33 virus associated hemophagocytic syndrome 11.1
34 dysgammaglobulinemia 10.6 SH2D1A STXBP2 XIAP
35 hyperlucent lung 10.6 IFNG IL2RA
36 lymphoma 10.6
37 acute necrotizing encephalitis 10.6 GZMB IFNG
38 selective immunoglobulin deficiency disease 10.5 SH2D1A STXBP2
39 leukemia 10.5
40 staphylococcal toxic shock syndrome 10.5 IFNG TNF
41 posterior uveitis 10.5 IFNG IL2RA TNF
42 pleural tuberculosis 10.5 IFNG IL18 TNF
43 intermediate uveitis 10.5 IFNG IL2RA TNF
44 paracoccidioidomycosis 10.4 IFNG IL18 TNF
45 cutaneous lupus erythematosus 10.4 GZMB IL18 TNF
46 autoimmune myocarditis 10.4 IFNG TNF
47 erythema multiforme 10.4 GZMB IFNG TNF
48 lymphatic system disease 10.4 RAB27A SH2D1A STX11 STXBP2 UNC13D
49 melioidosis 10.4 IFNG IL18 TNF
50 b-cell expansion with nfkb and t-cell anergy 10.4 CD5 GZMB IL2RA

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:


bulging fontanelle, seizures, icterus, hemiplegia, ataxia

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 AP3B1 CD5 IFNG IL18 IL2RA LYST
2 immune system MP:0005387 10.21 AP3B1 CD5 IFNG IL18 IL2RA LYST
3 homeostasis/metabolism MP:0005376 10.18 AP3B1 IFNG IL18 IL2RA LYST PRF1
4 integument MP:0010771 10.02 AP3B1 CD5 IFNG IL18 LAMP1 LYST
5 nervous system MP:0003631 10 AP3B1 CD5 IFNG IL18 LAMP1 LYST
6 no phenotypic analysis MP:0003012 9.76 AP3B1 CD5 IFNG LYST SNAP23 STX11
7 respiratory system MP:0005388 9.5 AP3B1 IFNG IL2RA LYST RAB27A STXBP2
8 vision/eye MP:0005391 9.23 AP3B1 IFNG IL18 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 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
3
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
4
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
5
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 657311 5754
6
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
7
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
8
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Phase 1 128794-94-5 5281078
9
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1 24280-93-1 446541
10
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
11
Asparaginase Approved, Investigational Phase 3 9015-68-3
12
Methylprednisolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 83-43-2 6741
13
Pegaspargase Approved, Investigational Phase 3 130167-69-0
14
Prednisolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 50-24-8 5755
15
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
16
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 143 6006
17
Butyric Acid Experimental, Investigational Phase 3,Phase 2 107-92-6 264
18
Doxil Approved June 1999 Phase 3,Phase 2 31703
19 Alkylating Agents Phase 3,Phase 2,Phase 1
20 Anti-Bacterial Agents Phase 3,Phase 2
21 Antibiotics, Antitubercular Phase 3,Phase 2
22 Antiemetics Phase 3,Phase 2,Phase 1
23 Antifungal Agents Phase 3,Phase 2,Phase 1
24 Anti-Infective Agents Phase 3,Phase 2,Phase 1
25 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
26 Antilymphocyte Serum Phase 3,Phase 2
27 Antimetabolites Phase 3,Phase 2,Phase 1
28 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
29 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1
30 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
31 Antirheumatic Agents Phase 3,Phase 2,Phase 1
32 Antitubercular Agents Phase 3,Phase 2
33 Autonomic Agents Phase 3,Phase 2,Phase 1
34 BB 1101 Phase 3,Phase 2
35 Calcineurin Inhibitors Phase 3,Phase 2,Phase 1
36 Cortisol succinate Phase 3,Phase 2
37 Cyclosporins Phase 3,Phase 2,Phase 1
38 Dermatologic Agents Phase 3,Phase 2,Phase 1
39 Dexamethasone acetate Phase 3,Phase 2 1177-87-3
40 Etoposide phosphate Phase 3,Phase 2
41 Folic Acid Antagonists Phase 3,Phase 2
42 Gastrointestinal Agents Phase 3,Phase 2,Phase 1
43 glucocorticoids Phase 3,Phase 2,Phase 1
44 Hormone Antagonists Phase 3,Phase 2,Phase 1
45 Hormones Phase 3,Phase 2,Phase 1
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
47 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2
48 Hydrocortisone acetate Phase 3,Phase 2
49 Hydrocortisone-17-butyrate Phase 3,Phase 2
50 Immunosuppressive Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show all 46)

# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy Followed By Donor Stem Cell Transplant in Treating Patients With Hemophagocytic Lymphohistiocytosis Unknown status NCT00334672 Phase 3 busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
2 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Recruiting NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
3 L-DEP as an Initial Treatment for EBV-HLH Recruiting NCT02912702 Phase 3 Pegaspargase;doxorubicin hydrochloride liposome injection;etoposide;methylprednisolone;Etoposide;dexamethasone
4 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Recruiting NCT02862054 Phase 2, Phase 3
5 A Study to Investigate the Safety and Efficacy of an Anti-IFNγ mAb in Children Affected by Primary Haemophagocytic Lymphohistiocytosis Recruiting NCT01818492 Phase 2, Phase 3
6 Treatment Protocol for Hemophagocytic Lymphohistiocytosis 2004 Active, not recruiting NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
7 Study to Assess the Efficacy and Safety of Emapalumab in Primary Haemophagocytic Lymphohistiocytosis Not yet recruiting NCT03312751 Phase 3 Emapalumab
8 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
9 Trial of DA-EPOCH Regimen for NHL With HLH Unknown status NCT01818908 Phase 2 DA-EPOCH
10 Hybrid Immunotherapy for Hemophagocytic LymphoHistiocytosis Completed NCT01104025 Phase 2 ATG, rabbit;Etoposide;Methotrexate;hydrocortisone;Dexamethasone
11 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
12 Tocilizumab and Hemophagocytic Lymphohistiocytosis (HLH) Recruiting NCT02007239 Phase 2 tocilizumab
13 Treatment of Familiar Lymphohistiocytosis Recruiting NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
14 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
15 A Study to Investigate the Safety and Efficacy of an Anti-IFN-gamma mAb in Children With Systemic Juvenile Idiopathic Arthritis (sJIA) Developing Macrophage Activation Syndrome/ Secondary Hemophagocytic Lymphohistiocytosis (MAS/sHLH) Recruiting NCT03311854 Phase 2 NI-0501
16 Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome(MAS) Recruiting NCT02569463 Phase 1, Phase 2 Interleukin-2
17 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2 Ara-C;Cyclophosphamide
18 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
19 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
20 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
21 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
22 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Suspended NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
23 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
24 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
25 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
26 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
27 Children and Adult Hemophagocytic Syndrome (HLHa) Unknown status NCT02113917
28 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
29 New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
30 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943
31 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319
32 Ceftriaxone in Non-neutropenic Fever Completed NCT01225718
33 Biomarkers in Blood and Tissue Samples From Patients With Epstein-Barr Virus-Positive Hodgkin Lymphoma Completed NCT01490801
34 Investigation of the Role of FHL-1 and Myostatin in Intensive Care Unit Acquired Paresis (ICUAP) Completed NCT01321320 Not Applicable
35 Study to Evaluate Interferon Gamma (IFNγ) and Other Inflammatory Mediators in Patients With Malignancy-Associated Hemophagocytic Lymphohistiocytosis (M-HLH) Recruiting NCT03259230
36 Prospective Cohort for Adult Hemophagocytosis Recruiting NCT03117010 Steroids;Etoposide
37 A Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Recruiting NCT02400463 Early Phase 1 Ruxolitinib
38 Long-term Follow-up of HLH Patients Who Received Treatment With NI-0501, an Anti-interferon Gamma Monoclonal Antibody Recruiting NCT02069899 NI-0501
39 Intensive Care Unit and Secondary and Primary Immune Deficiency Recruiting NCT02888535
40 Transfusion-related EBV Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients Recruiting NCT02505789
41 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
42 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
43 Methylprednisolone for Children With Severe Mycoplasma Pneumoniae Pneumonia (MCMP) Recruiting NCT02303587 methylprednisolone
44 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
45 Pilot Study of Etoposide-based Therapy and Hematopoietic Cell Transplantation for Hemophagocytic Lymphohistiocytosis Terminated NCT01547143 IST and/or alloHCT
46 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

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

Genetic tests related to Hemophagocytic Lymphohistiocytosis:

# Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 28

Anatomical Context for Hemophagocytic Lymphohistiocytosis

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

38
T Cells, Liver, Spleen, B Cells, Monocytes, Bone, Bone Marrow

Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 796)
# Title Authors Year
1
Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy. ( 29410181 )
2018
2
Quantitative PCR Assays of Cytomegalovirus and Epstein-Barr Virus in Hemophagocytic Lymphohistiocytosis. ( 29313310 )
2018
3
Parvovirus B19-associated Hemophagocytic Lymphohistiocytosis in a Patient With Glucose-6-phosphate Dehydrogenase Deficiency. ( 29432306 )
2018
4
The influence of various therapeutic regimens on early clinical and laboratory response and outcome of children with secondary hemophagocytic lymphohistiocytosis. ( 29379544 )
2018
5
Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis. ( 29324572 )
2018
6
EBV-associated hemophagocytic lymphohistiocytosis complicated by severe coagulation disorders and opportunistic infections: case report of a survivor. ( 29375849 )
2018
7
Hemophagocytic lymphohistiocytosis in an HIV-positive patient with concomitant disseminated histoplasmosis. ( 29433397 )
2018
8
Hyperferritinemia in Hemophagocytic Lymphohistiocytosis: A Single Institution Experience in Pediatric Patients. ( 29371779 )
2018
9
Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis in Adults: A Retrospective Analysis of 23 Patients in China. ( 29431300 )
2018
10
Ruxolitinib as First-Line Treatment in Secondary Hemophagocytic Lymphohistiocytosis: A Second Experience. ( 29417621 )
2018
11
Hemophagocytic Lymphohistiocytosis Secondary to T Cell/Histiocyte-rich Large B Cell Lymphoma in an Adolescent Male. ( 29187030 )
2018
12
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China. ( 29357941 )
2018
13
Hemophagocytic Lymphohistiocytosis: A Confusing Problem of the Diagnosis of Visceral Leishmaniasis. ( 29398821 )
2018
14
Suspected thrombotic microangiopathy in a child with Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis. ( 29411928 )
2018
15
Severe dengue due to secondary hemophagocytic lymphohistiocytosis: A case study. ( 28409119 )
2017
16
Hemophagocytic lymphohistiocytosis complicated by multiorgan failure: A case report. ( 29390336 )
2017
17
A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis. ( 28468610 )
2017
18
Atypical Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis simulating lymphadenitis on<sup>18</sup>F-FDG PET/CT and its differential diagnosis. ( 29177266 )
2017
19
Pulmonary Alveolar Proteinosis in Association with Secondary Hemophagocytic Lymphohistiocytosis. ( 28088396 )
2017
20
Hemophagocytic lymphohistiocytosis in an adult kidney transplant recipient successfully treated by plasmapheresis: A case report and review of the literature. ( 29390386 )
2017
21
A Case of Primary Bone Marrow Diffuse Large B-cell Lymphoma Presenting With Fibrillar Projections and Hemophagocytic Lymphohistiocytosis. ( 28840996 )
2017
22
Tuberculosis-associated hemophagocytic lymphohistiocytosis with initial presentation of fever of unknown origin in a general hospital: An analysis of 8 clinical cases. ( 28422850 )
2017
23
HIF1A is a critical downstream mediator for hemophagocytic lymphohistiocytosis. ( 28860338 )
2017
24
Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome. ( 28807357 )
2017
25
Recent advances in diagnostic and therapeutic guidelines for primary and secondary hemophagocytic lymphohistiocytosis. ( 28433836 )
2017
26
Hemophagocytic Lymphohistiocytosis in Adults with Intraocular Involvement: Clinicopathologic Features of 3 Cases. ( 29344491 )
2017
27
A systematic review of malignancy-associated hemophagocytic lymphohistiocytosis that needs more attentions. ( 28938698 )
2017
28
Elevation of CD16(+)CD56(+) NK-cells and down-regulation of serum interleukin-21 (IL-21) and IL-1I+ after splenectomy in relapsed hemophagocytic lymphohistiocytosis of unknown cause. ( 28413901 )
2017
29
Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites. ( 28403691 )
2017
30
Pembrolizumab Associated Hemophagocytic Lymphohistiocytosis. ( 28368439 )
2017
31
A Novel Case of Pulmonary Nocardiosis with Secondary Hemophagocytic Lymphohistiocytosis. ( 28836562 )
2017
32
Erdheim-Chester disease with unusual clinicopathological features complicated by DRESS syndrome, disseminated Cytomegalovirus infection and hemophagocytic lymphohistiocytosis. ( 28418177 )
2017
33
A Personalized Diagnostic and Treatment Approach for Macrophage Activation Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in Adults. ( 28871523 )
2017
34
Fludarabine is effective in treating refractory hemophagocytic lymphohistiocytosis with brucellosis. ( 28378406 )
2017
35
Potentially Toxic Chemotherapy in Secondary Hemophagocytic Lymphohistiocytosis Patients That Could Have Been Replaced by Less Immunosuppressive Therapy. ( 28926358 )
2017
36
Hemophagocytic Lymphohistiocytosis in a Newborn Presenting as "Blueberry Muffin Baby". ( 28523896 )
2017
37
Multiple Nonleukemic Myeloid Sarcoma Associated Hemophagocytic Lymphohistiocytosis in an Adult. ( 29226650 )
2017
38
From febrile pancytopenia to hemophagocytic lymphohistiocytosis-associated organ dysfunction. ( 28649693 )
2017
39
Pregnancy-associated hemophagocytic lymphohistiocytosis secondary to NK/T cells lymphoma: A case report and literature review. ( 29381934 )
2017
40
Screening for Epstein-Barr Virus Status and Risk of Hemophagocytic Lymphohistiocytosis in Children With Inflammatory Bowel Disease on Azathioprine. ( 28881189 )
2017
41
Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: A retrospective multicenter study. ( 27781387 )
2017
42
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding. ( 28399723 )
2017
43
Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G. ( 28029005 )
2017
44
Efficacy of Prompt Initiation of Antiretroviral Therapy in the Treatment of Hemophagocytic Lymphohistiocytosis Triggered by Uncontrolled Human Immunodeficiency Virus. ( 28856025 )
2017
45
Hemophagocytic lymphohistiocytosis with high serum levels of IL-18 and predominant lymphocyte activation in a neonate born to a mother with adult-onset Still's disease. ( 28450255 )
2017
46
Hemophagocytic lymphohistiocytosis presenting in a pediatric patient with near total colonic and small bowel aganglionosis: a case report. ( 28854959 )
2017
47
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. ( 28936583 )
2017
48
Hemophagocytic Lymphohistiocytosis. ( 28934563 )
2017
49
Hemophagocytic lymphohistiocytosis secondary to disseminated histoplasmosis in systemic lupus erythematosus. ( 28786081 )
2017
50
Acute HIV infection presenting as hemophagocytic lymphohistiocytosis: case report and review of the literature. ( 28931369 )
2017

Variations for Hemophagocytic Lymphohistiocytosis

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRF1 NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs28933973 GRCh37 Chromosome 10, 72358804: 72358804
2 UNC13D NM_199242.2(UNC13D): c.1389+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs777759523 GRCh37 Chromosome 17, 73832419: 73832419
3 STXBP2 NM_006949.3(STXBP2): c.1247-1G> C single nucleotide variant Pathogenic rs140148806 GRCh37 Chromosome 19, 7710082: 7710082

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 GZMB IFNG IL2RA PRF1 TNF
2
Show member pathways
12.66 IFNG IL18 IL2RA SH2D1A TNF
3 12.41 GZMB IFNG IL2RA SH2D1A TNF
4
Show member pathways
12.35 GZMB IFNG PRF1 SH2D1A TNF
5
Show member pathways
12.12 GZMB PRF1 TNF XIAP
6 12.09 IFNG IL18 LAMP1 TNF
7
Show member pathways
11.8 IFNG IL18 TNF
8 11.78 CD5 IFNG IL2RA LAMP1 TNF
9 11.76 CD5 IL2RA TNF
10
Show member pathways
11.76 GZMB IFNG IL18 IL2RA
11 11.72 IFNG IL18 TNF
12
Show member pathways
11.6 IFNG IL2RA TNF
13 11.39 IFNG IL18 TNF
14 11.37 IFNG IL18 TNF
15 11.26 GZMB IFNG IL18 IL2RA TNF
16 11.18 IFNG IL18 TNF
17 11.11 IFNG IL18 TNF
18
Show member pathways
11.11 GZMB IFNG IL2RA TNF
19 10.94 IFNG IL2RA PRF1
20 10.9 IFNG IL18 IL2RA PRF1
21 10.81 RAB27A UNC13D
22
Show member pathways
10.81 GZMB IFNG IL2RA PRF1 TNF
23 10.66 RAB27A UNC13D

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 external side of plasma membrane GO:0009897 9.62 CD5 IL2RA LAMP1 TNF
2 exocytic vesicle GO:0070382 9.4 RAB27A UNC13D
3 specific granule GO:0042581 9.37 SNAP23 STXBP2
4 SNARE complex GO:0031201 9.33 SNAP23 STX11 STXBP2
5 azurophil granule GO:0042582 9.26 SNAP23 STXBP2
6 Weibel-Palade body GO:0033093 8.96 RAB27A UNC13D
7 cytolytic granule GO:0044194 8.8 LAMP1 PRF1 STXBP2

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 9.92 LAMP1 RAB27A SNAP23 STXBP2 UNC13D
2 vesicle-mediated transport GO:0016192 9.84 AP3B1 RAB27A STX11 STXBP2
3 defense response to virus GO:0051607 9.76 IFNG LYST PRF1 UNC13D
4 humoral immune response GO:0006959 9.65 IFNG SH2D1A TNF
5 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.57 IFNG TNF
6 regulation of regulatory T cell differentiation GO:0045589 9.56 IFNG IL2RA
7 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.55 SNAP23 STX11
8 regulation of mast cell degranulation GO:0043304 9.51 STXBP2 UNC13D
9 synaptic vesicle priming GO:0016082 9.49 SNAP23 UNC13B
10 exocytosis GO:0006887 9.46 RAB27A STXBP2 UNC13B UNC13D
11 natural killer cell degranulation GO:0043320 9.43 RAB27A UNC13D
12 granzyme-mediated apoptotic signaling pathway GO:0008626 9.4 GZMB LAMP1
13 positive regulation of regulated secretory pathway GO:1903307 9.37 RAB27A UNC13D
14 positive regulation of killing of cells of other organism GO:0051712 9.32 IFNG PRF1
15 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.26 IFNG TNF
16 positive regulation of vitamin D biosynthetic process GO:0060557 8.96 IFNG TNF
17 natural killer cell mediated cytotoxicity GO:0042267 8.8 GZMB IL18 LYST

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 CD5 FHL2 GZMB IFNG IL18 IL2RA

Sources for Hemophagocytic Lymphohistiocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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