FEL
MCID: HMP002
MIFTS: 64

Hemophagocytic Lymphohistiocytosis (FEL) malady

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

Aliases & Descriptions for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis 38 12 50 14
Familial Hemophagocytic Lymphohistiocytosis 50 24 25 56 29 52
Familial Erythrophagocytic Lymphohistiocytosis 50 24 25
Hemophagocytic Syndrome 12 25 69
Familial Hemophagocytic Lymphocytosis 25 69
Lymphohistiocytosis, Hemophagocytic 42 69
Fhlh 24 25
Fhl 50 25
Primary Hemophagocytic Hymphohistiocytosis 25
Familial Hemophagocytic Histiocytosis 25
Familial Hemophagocytic Reticulosis 25
Lymphohistiocytosis Hemophagocytic 52
Familial Histiocytic Reticulosis 50
Haemophagocytic Syndrome 12
Familial Hlh 56
Hplh 25
Hps 12
Hlh 50
Fel 25

Characteristics:

Orphanet epidemiological data:

56
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 33 D76.1
MeSH 42 D051359
NCIt 47 C34792
SNOMED-CT 64 190958003 234437005
Orphanet 56 ORPHA540
UMLS via Orphanet 70 C0272199
ICD10 via Orphanet 34 D76.1
UMLS 69 C0024291

Summaries for Hemophagocytic Lymphohistiocytosis

NIH Rare Diseases : 50 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 which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal 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 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. last updated: 6/10/2016

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis, familial, 1 and hemophagocytic lymphohistiocytosis, familial, 4, and has symptoms including ataxia, hemiplegia and icterus. An important gene associated with Hemophagocytic Lymphohistiocytosis is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Allograft rejection and Influenza A. The drugs Dexamethasone and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include liver, t cells and spleen, and related phenotypes are hematopoietic system and immune system

Genetics Home Reference : 25 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 : 71 Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British... more...

Related Diseases for Hemophagocytic Lymphohistiocytosis

Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial, 4 Hemophagocytic Lymphohistiocytosis, Familial, 1
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 216)
id Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 1 12.5
2 hemophagocytic lymphohistiocytosis, familial, 4 12.5
3 hemophagocytic lymphohistiocytosis, familial, 3 12.5
4 hemophagocytic lymphohistiocytosis, familial, 2 12.5
5 hemophagocytic lymphohistiocytosis, familial, 5 12.4
6 acquired hemophagocytic lymphohistiocytosis associated with a malignant disease 12.0
7 hantavirus pulmonary syndrome 11.9
8 hypoplastic left heart syndrome 11.9
9 pancreatitis, hereditary 11.5
10 hermansky-pudlak syndrome 2 11.5
11 macrophage activation syndrome 11.4
12 hermansky-pudlak syndrome 1 11.4
13 griscelli syndrome, type 2 11.4
14 lymphoproliferative syndrome 1 11.2
15 lymphoproliferative syndrome, x-linked, 1 11.2
16 lymphoproliferative syndrome 2 11.2
17 virus associated hemophagocytic syndrome 11.0
18 lymphoma 10.5
19 leukemia 10.4
20 gestational diabetes 10.4 SH2D1A STXBP2 XIAP
21 x inactivation, familial skewed, 2 10.4 SH2D1A XIAP
22 lethal congenital contracture syndrome 9 10.3 FHL2 STX11 STXBP2 UNC13D
23 tau syndrome 10.3 IL18 PRF1 TNF
24 asymptomatic neurosyphilis 10.3 IFNG IL2RA
25 amyotrophic lateral sclerosis-parkinsonism/dementia complex 10.3 RAB27A UNC13B UNC13D
26 vesicoureteral reflux 4 10.3 AP3B1 LAMP1
27 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 10.3 IFNG IL2RA TNF
28 autosomal dominant robinow syndrome 3 10.3 IL2RA SH2D1A UNC13D XIAP
29 subungual glomus tumor 10.3 GZMB IFNG
30 parametritis 10.3 IFNG IL2RA TNF
31 cyclosporiasis 10.3 IFNG IL2RA TNF
32 madras motor neuron disease 10.3 PRF1 RAB27A TNF UNC13D
33 erb-duchenne and dejerine-klumpke palsies 10.3 IFNG IL2RA TNF
34 myiasis 10.3 IFNG IL2RA TNF
35 venezuelan hemorrhagic fever 10.3 GZMB IFNG TNF
36 hyperaldosteronism, familial, type ii 10.3 CD5 GZMB IL2RA
37 heart conduction disease 10.3 IFNG IL2RA TNF
38 eye carcinoma in situ 10.3 IFNG IL18 TNF
39 burns 10.3 GZMB IFNG TNF
40 lumbar spinal canal and spinal cord meningioma 10.3 RAB27A SH2D1A STX11 STXBP2 UNC13D
41 benign eccrine breast spiradenoma 10.3 IFNG IL18 TNF
42 anterior foramen magnum meningioma 10.3 IFNG IL2RA TNF
43 vulvar nodular hidradenoma 10.3 IFNG IL2RA TNF
44 geniculate ganglionitis 10.3 IFNG IL18 TNF
45 glucose intolerance 10.2 IFNG IL18 IL2RA TNF
46 mast-cell leukemia 10.2 GZMB IFNG TNF
47 retinal ischemia 10.2 IFNG IL18 IL2RA TNF
48 red cell phospholipid defect with hemolysis 10.2 GZMB IFNG IL18 TNF
49 deafness, autosomal recessive 67 10.2 IFNG IL18 IL2RA TNF
50 periodontosis 10.2 GZMB IFNG IL2RA TNF

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:


ataxia, hemiplegia, icterus, seizures, bulging fontanelle

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 AP3B1 CD5 IFNG IL18 IL2RA PRF1
2 immune system MP:0005387 9.97 RAB27A SH2D1A STX11 STXBP2 TNF UNC13D
3 integument MP:0010771 9.61 AP3B1 CD5 IFNG IL18 LAMP1 PRF1
4 no phenotypic analysis MP:0003012 9.17 AP3B1 CD5 IFNG SNAP23 STX11 TNF

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

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

(show top 50) (show all 109)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
2
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
3
Cyclosporine Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
4
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
5
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
6
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
7
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1 24280-93-1 446541
8
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Phase 1 128794-94-5 5281078
9
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
10
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754 657311
11
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
12
Prednisolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 50-24-8 5755
13
Methylprednisolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 83-43-2 6741
14
Asparaginase Approved Phase 3 9015-68-3
15
Pegaspargase Approved, Investigational Phase 3 130167-69-0
16
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 54575, 6560146 143
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
18
Butyric Acid Experimental Phase 3,Phase 2 107-92-6 264
19
Doxil Approved June 1999 Phase 3,Phase 2 31703
20 Dexamethasone acetate Phase 3,Phase 2 1177-87-3
21 Alkylating Agents Phase 3,Phase 2,Phase 1
22 glucocorticoids Phase 3,Phase 2,Phase 1
23 Folic Acid Antagonists Phase 3,Phase 2
24 Gastrointestinal Agents Phase 3,Phase 2,Phase 1
25 Cortisol succinate Phase 3,Phase 2
26 Topoisomerase Inhibitors Phase 3,Phase 2
27 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
28 Dermatologic Agents Phase 3,Phase 2,Phase 1
29 Hormone Antagonists Phase 3,Phase 2,Phase 1
30 Dexamethasone 21-phosphate Phase 3,Phase 2
31 Hormones Phase 3,Phase 2,Phase 1
32 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
34 Vitamin B Complex Phase 3,Phase 2
35 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2
36 Hydrocortisone acetate Phase 3,Phase 2
37 Hydrocortisone-17-butyrate Phase 3,Phase 2
38 Anti-Bacterial Agents Phase 3,Phase 2
39 Etoposide phosphate Phase 3,Phase 2
40 Anti-Infective Agents Phase 3,Phase 2,Phase 1
41 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
42 Antiemetics Phase 3,Phase 2,Phase 1
43 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
44 Antifungal Agents Phase 3,Phase 2,Phase 1
45 Antilymphocyte Serum Phase 3,Phase 2
46 Antimetabolites Phase 3,Phase 2,Phase 1
47 Antibiotics, Antitubercular Phase 3,Phase 2
48 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
49 Antirheumatic Agents Phase 3,Phase 2,Phase 1
50 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show all 42)
id Name Status NCT ID Phase
1 Combination Chemotherapy Followed By Donor Stem Cell Transplant in Treating Patients With Hemophagocytic Lymphohistiocytosis Unknown status NCT00334672 Phase 3
2 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status NCT00176826 Phase 2, Phase 3
3 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Recruiting NCT02631109 Phase 3
4 L-DEP as an Initial Treatment for EBV-HLH Recruiting NCT02912702 Phase 3
5 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Recruiting NCT02862054 Phase 2, Phase 3
6 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
7 Treatment Protocol for Hemophagocytic Lymphohistiocytosis 2004 Active, not recruiting NCT00426101 Phase 3
8 Trial of DA-EPOCH Regimen for NHL With HLH Unknown status NCT01818908 Phase 2
9 Hybrid Immunotherapy for Hemophagocytic LymphoHistiocytosis Completed NCT01104025 Phase 2
10 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2
11 Tocilizumab and Hemophagocytic Lymphohistiocytosis (HLH) Recruiting NCT02007239 Phase 2
12 Treatment of Familiar Lymphohistiocytosis Recruiting NCT02472054 Phase 1, Phase 2
13 Alemtuzumab in Combination With Etoposide and Dexamethasone for the Treatment of Adult Patients With Hemophagocytic Lymphohistiocytosis Recruiting NCT02385110 Phase 2
14 Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome(MAS) Recruiting NCT02569463 Phase 1, Phase 2
15 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2
16 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
17 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
18 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
19 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
20 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
21 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
22 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
23 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1
24 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
25 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056
26 New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
27 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943
28 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319
29 Ceftriaxone in Non-neutropenic Fever Completed NCT01225718
30 Biomarkers in Blood and Tissue Samples From Patients With Epstein-Barr Virus-Positive Hodgkin Lymphoma Completed NCT01490801
31 Prospective Cohort for Adult Hemophagocytosis Recruiting NCT03117010
32 A Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Recruiting NCT02400463 Early Phase 1
33 Long-term Follow-up of HLH Patients Who Received Treatment With NI-0501, an Anti-interferon Gamma Monoclonal Antibody Recruiting NCT02069899
34 Intensive Care Unit and Secondary and Primary Immune Deficiency Recruiting NCT02888535
35 Transfusion-related EBV Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients Recruiting NCT02505789
36 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092
37 Methylprednisolone for Children With Severe Mycoplasma Pneumoniae Pneumonia (MCMP) Recruiting NCT02303587
38 Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders Recruiting NCT00895271
39 CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367
40 Children and Adult Hemophagocytic Syndrome (HLHa) Active, not recruiting NCT02113917
41 Pilot Study of Etoposide-based Therapy and Hematopoietic Cell Transplantation for Hemophagocytic Lymphohistiocytosis Terminated NCT01547143
42 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054

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:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 29 24 UNC13D

Anatomical Context for Hemophagocytic Lymphohistiocytosis

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

39
Liver, T Cells, Spleen, B Cells, Monocytes, Bone, Bone Marrow

Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 740)
id Title Authors Year
1
Pyogenic brain abscesses treated with antibiotics in a patient with hemophagocytic lymphohistiocytosis on HLH-94 protocol. ( 28466263 )
2017
2
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
3
The Maze of Diagnosing Hemophagocytic Lymphohistiocytosis: Single-Center Experience of a Series of 6 Clinical Cases. ( 28052298 )
2017
4
Hemophagocytic lymphohistiocytosis in acute African swine fever clinic. ( 28494931 )
2017
5
Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-I^R1 Deficiency: Case Report and Review of the Literature. ( 28516082 )
2017
6
Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G. ( 28029005 )
2017
7
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
8
Hemophagocytic lymphohistiocytosis following influenza vaccination in a patient with aplastic anemia undergoing allogeneic bone marrow stem cell transplantation. ( 28054244 )
2017
9
Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis during pregnancy. ( 28381688 )
2017
10
Usual and Unusual Manifestations of Familial Hemophagocytic Lymphohistiocytosis and Langerhans Cell Histiocytosis. ( 27894453 )
2017
11
Recent advances in diagnostic and therapeutic guidelines for primary and secondary hemophagocytic lymphohistiocytosis. ( 28433836 )
2017
12
A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis. ( 28468610 )
2017
13
Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites. ( 28403691 )
2017
14
Lemierre's Syndrome as a Trigger for Secondary Hemophagocytic Lymphohistiocytosis. ( 28085751 )
2017
15
Acute Cytomegalovirus (CMV) Infection Associated with Hemophagocytic Lymphohistiocytosis (HLH) in an Immunocompetent Host Meeting All Eight HLH 2004 Diagnostic Criteria. ( 28409071 )
2017
16
Hemophagocytic lymphohistiocytosis in adults: An under recognized entity. ( 28070498 )
2017
17
A Case of Hemophagocytic Lymphohistiocytosis and Kawasaki Disease: Concurrent or Overlapping Diagnoses? ( 28452857 )
2017
18
Secondary Hemophagocytic Lymphohistiocytosis: Do We Really Need Chemotherapeutics for All Patients? ( 28060133 )
2017
19
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding. ( 28399723 )
2017
20
Hemophagocytic Lymphohistiocytosis in a Newborn Presenting as "Blueberry Muffin Baby". ( 28523896 )
2017
21
Erdheim-Chester disease with unusual clinicopathological features complicated by DRESS syndrome, disseminated Cytomegalovirus infection and hemophagocytic lymphohistiocytosis. ( 28418177 )
2017
22
Pulmonary Alveolar Proteinosis in Association with Secondary Hemophagocytic Lymphohistiocytosis. ( 28088396 )
2017
23
Hemophagocytic lymphohistiocytosis in patients with metastatic malignant melanoma. ( 28471834 )
2017
24
Fludarabine is effective in treating refractory hemophagocytic lymphohistiocytosis with brucellosis. ( 28378406 )
2017
25
Pembrolizumab Associated Hemophagocytic Lymphohistiocytosis. ( 28368439 )
2017
26
Tuberculosis-associated hemophagocytic lymphohistiocytosis with initial presentation of fever of unknown origin in a general hospital: An analysis of 8 clinical cases. ( 28422850 )
2017
27
Severe dengue due to secondary hemophagocytic lymphohistiocytosis: A case study. ( 28409119 )
2017
28
Griscelli Syndrome presented with status epilepticus and hemophagocytic lymphohistiocytosis. ( 27095280 )
2016
29
Weathering a Cytokine Storm: A Case of EBV-Induced Hemophagocytic Lymphohistiocytosis. ( 27200381 )
2016
30
Extracorporeal membrane oxygenation outcomes in children with hemophagocytic lymphohistiocytosis. ( 27625333 )
2016
31
Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis. ( 26739415 )
2016
32
Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate. ( 27922757 )
2016
33
A Rare Case of Hemophagocytic Lymphohistiocytosis Associated with Parvovirus B19 Infection. ( 28018767 )
2016
34
Hemophagocytic lymphohistiocytosis: an update for nephrologists. ( 27098410 )
2016
35
Hemophagocytic Lymphohistiocytosis After Initiation of Chemotherapy for Bilateral Adrenal Neuroblastoma. ( 26583611 )
2016
36
Cutaneous Hemophagocytic Lymphohistiocytosis: Bean Bags From the Bone. ( 27191366 )
2016
37
ALK-positive anaplastic large-cell lymphoma with marked leukemoid reaction and hemophagocytic lymphohistiocytosis. ( 27563714 )
2016
38
Hemophagocytic lymphohistiocytosis: a rare complication of autologous stem cell transplantation. ( 27516033 )
2016
39
Hemophagocytic Lymphohistiocytosis as a Complication in Patients with MSMD. ( 27146670 )
2016
40
Use of Extracorporeal Support in Hemophagocytic Lymphohistiocytosis Secondary to Ehrlichiosis. ( 27633921 )
2016
41
Hemophagocytic lymphohistiocytosis: A concise review for the practicing physician. ( 27178894 )
2016
42
Hemophagocytic Lymphohistiocytosis and Progressive Disseminated Histoplasmosis. ( 27191972 )
2016
43
Liver Transplantation for children with acute liver failure associated with secondary hemophagocytic lymphohistiocytosis. ( 27216884 )
2016
44
"Irony" of managing refractory anemia with transfusional support in hemophagocytic lymphohistiocytosis. ( 27102761 )
2016
45
Hemophagocytic lymphohistiocytosis responding to withdrawal of gluten: a case report. ( 27658824 )
2016
46
Rituximab, etoposide, methylprednisolone, high-dose cytarabine, and cisplatin in the treatment of secondary hemophagocytic lymphohistiocytosis with classical Hodgkin lymphoma: a case report and review of the literature. ( 27998299 )
2016
47
18F-FDG PET/CT for identifying the potential causes and extent of secondary hemophagocytic lymphohistiocytosis. ( 27537853 )
2016
48
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2. ( 26451869 )
2016
49
Cytokine and viral load kinetics in human herpesvirus 8-associated multicentric Castleman's disease complicated by hemophagocytic lymphohistiocytosis. ( 26692197 )
2016
50
Hemophagocytic lymphohistiocytosis with leukoencephalopathy in a patient with dermatomyositis accompanied with peripheral T-cell lymphoma: a case report. ( 27484255 )
2016

Variations for Hemophagocytic Lymphohistiocytosis

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UNC13D NM_199242.2(UNC13D): c.1389+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs777759523 GRCh37 Chromosome 17, 73832419: 73832419
2 PRF1 NM_001083116.1(PRF1): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs28933973 GRCh37 Chromosome 10, 72358804: 72358804
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 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 GZMB IFNG IL2RA PRF1 TNF
2
Show member pathways
12.67 IFNG IL18 IL2RA SH2D1A TNF
3 12.39 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 11.79 CD5 IFNG IL2RA LAMP1 TNF
8 11.76 CD5 IL2RA TNF
9
Show member pathways
11.76 GZMB IFNG IL18 IL2RA
10 11.72 IFNG IL18 TNF
11
Show member pathways
11.6 IFNG IL2RA TNF
12 11.39 IFNG IL18 TNF
13 11.37 IFNG IL18 TNF
14 11.26 GZMB IFNG IL18 IL2RA TNF
15 11.18 IFNG IL18 TNF
16
Show member pathways
11.16 GZMB IFNG IL2RA TNF
17 11.11 IFNG IL18 TNF
18
Show member pathways
11.01 IFNG IL2RA PRF1
19 10.9 IFNG IL18 IL2RA PRF1
20 10.81 RAB27A UNC13D
21
Show member pathways
10.81 GZMB IFNG IL2RA PRF1 TNF
22 10.65 RAB27A UNC13D

GO Terms for Hemophagocytic Lymphohistiocytosis

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

id Name GO ID Score Top Affiliating Genes
1 SNARE complex GO:0031201 9.43 SNAP23 STX11 STXBP2
2 exocytic vesicle GO:0070382 9.4 RAB27A UNC13D
3 specific granule GO:0042581 9.37 SNAP23 STXBP2
4 external side of plasma membrane GO:0009897 9.35 CD5 IFNG IL2RA LAMP1 TNF
5 azurophil granule GO:0042582 9.32 SNAP23 STXBP2
6 Weibel-Palade body GO:0033093 9.16 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 16)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.91 LAMP1 RAB27A SNAP23 STXBP2 UNC13D
2 vesicle-mediated transport GO:0016192 9.83 AP3B1 RAB27A STX11 STXBP2
3 humoral immune response GO:0006959 9.61 IFNG SH2D1A TNF
4 antigen processing and presentation GO:0019882 9.58 AP3B1 IFNG RAB27A
5 negative regulation of growth of symbiont in host GO:0044130 9.56 IFNG TNF
6 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.55 IFNG TNF
7 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.54 SNAP23 STX11
8 positive regulation of chemokine biosynthetic process GO:0045080 9.49 IFNG TNF
9 regulation of mast cell degranulation GO:0043304 9.48 STXBP2 UNC13D
10 synaptic vesicle priming GO:0016082 9.46 SNAP23 UNC13B
11 natural killer cell degranulation GO:0043320 9.37 RAB27A UNC13D
12 positive regulation of regulated secretory pathway GO:1903307 9.32 RAB27A UNC13D
13 positive regulation of killing of cells of other organism GO:0051712 9.26 IFNG PRF1
14 exocytosis GO:0006887 9.26 RAB27A STXBP2 UNC13B UNC13D
15 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.16 IFNG TNF
16 positive regulation of vitamin D biosynthetic process GO:0060557 8.62 IFNG TNF

Sources for Hemophagocytic Lymphohistiocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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