Hemophagocytic Lymphohistiocytosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HMP002 MIFTS: 59	Hemophagocytic Lymphohistiocytosis Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis ¹¹ ⁷⁵ ⁵ ¹⁴ ³⁶

Lymphohistiocytosis, Hemophagocytic ⁴³ ³⁸ ⁷¹

Haemophagocytic Syndrome ¹¹ ³³

Histiocytoses of Mononuclear Phagocytes ³³

Haemophagocytic Lymphohistiocytosis Nos ³³

Familial Hemophagocytic Lymphocytosis ⁷¹

Lymphohistiocytosis Hemophagocytic ⁵³

Hemophagocytic Syndrome ⁷¹

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Neuronal diseases Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Other specified diseases with participation of lymphoreticular and reticulohistiocytic tissue

Haemophagocytic lymphohistiocytosis

ICD11: ³³

Diseases of the immune system

Primary immunodeficiencies

Primary immunodeficiencies due to disorders of adaptive immunity

Diseases of immune dysregulation

Primary haemophagocytic lymphohistiocytosis

External Ids:

Disease Ontology ¹¹ DOID:0050120

MeSH ⁴³ D051359

NCIt ⁴⁹ C34792

SNOMED-CT ⁶⁸ 190958003

ICD10 ³¹ D76.1

ICD11 ³³ 1523519942

UMLS ⁷¹ C0024291 C0272199 C3887558

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Summaries for Hemophagocytic Lymphohistiocytosis

Disease Ontology: ¹¹ 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, 1 and hemophagocytic lymphohistiocytosis, familial, 3, 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 Innate Immune System and Cytokine Signaling in Immune system. The drugs Etoposide and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, t cells and bone, and related phenotypes are cellular and immune system

Wikipedia: ⁷⁵ Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British... more...

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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
Familial Hemophagocytic Lymphohistiocytosis 5	Secondary Hemophagocytic Lymphohistiocytosis

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

(show top 50) (show all 927)

#	Related Disease	Score	Top Affiliating Genes
1	hemophagocytic lymphohistiocytosis, familial, 1	33.9	UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
2	hemophagocytic lymphohistiocytosis, familial, 3	33.5	UNC13D STXBP2 STX11 SH2D1A RAB27A
3	hemophagocytic lymphohistiocytosis, familial, 2	33.5	UNC13D STXBP2 STX11 SH2D1A PRF1 FHL2
4	hemophagocytic lymphohistiocytosis, familial, 4	33.4	UNC13D STXBP2 STX11 RAB27A LYST FHL2
5	familial hemophagocytic lymphohistiocytosis 5	33.2	UNC13D STXBP2 STX11 SH2D1A LYST
6	lymphoproliferative syndrome, x-linked, 1	32.9	UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
7	lymphoproliferative syndrome 1	32.8	UNC13D STXBP2 STX11 PRF1 IL2RA
8	macrophage activation syndrome	32.7	UNC13D RAB27A PRF1 IL18
9	lymphoproliferative syndrome, x-linked, 2	32.7	UNC13D STXBP2 STX11 SH2D1A RAB27A LYST
10	lymphoproliferative syndrome 2	32.7	UNC13D STXBP2 STX11 SH2D1A CD8A CD27
11	griscelli syndrome, type 2	32.4	UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
12	griscelli syndrome	32.4	UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
13	aplastic anemia	32.1	SH2D1A PRF1 IL10 IFNG GZMB CD8A
14	pancytopenia	32.0	UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
15	leishmaniasis	31.9	IL18 IL10 IFNG GZMB
16	lymphoma	31.8	SH2D1A IL2RA HAVCR2 GZMB CD27 CCR6
17	exanthem	31.8	IL18 IL10 IFNG CD8A CCR6
18	viral infectious disease	31.8	IL2RA IL18 IL10 IFNG GZMB CCR6
19	lymphoproliferative syndrome	31.7	UNC13D SH2D1A PRF1 IL10 CD27 CCR6
20	lymphoma, hodgkin, classic	31.7	SH2D1A IL2RA GZMB CCR6
21	autoimmune disease	31.7	PRF1 IL2RA IL18 IL10 IFNG HAVCR2
22	dengue disease	31.6	IL10 CD8A CCR6 CCL5
23	juvenile rheumatoid arthritis	31.6	IL2RA IL18 CCR6
24	visceral leishmaniasis	31.6	IL2RA IL18 IL10 IFNG CD8A CCR6
25	adult-onset still's disease	31.5	UNC13D IL18 CCR6
26	acute graft versus host disease	31.5	IL2RA IL10 IFNG
27	pfeiffer syndrome	31.5	SH2D1A PRF1 IL10 CD8A CD27 CCR6
28	immune deficiency disease	31.5	SH2D1A RAB27A IL2RA IL18 IL10 IFNG
29	human cytomegalovirus infection	31.5	IL10 CD8A CCR6
30	scrub typhus	31.5	IL18 IL10 IFNG GZMB
31	respiratory failure	31.5	IL18 IL10 IFNG CD8A CCR6 CCL5
32	epidemic typhus	31.4	IL10 CD8A CCL5
33	miliary tuberculosis	31.4	IL10 IFNG CD8A
34	severe covid-19	31.4	IL18 IL10 IFNG CD8A CCR6
35	lymphadenitis	31.4	IL2RA IL18 IL10 IFNG CCR6
36	panniculitis	31.4	IL2RA IFNG HAVCR2 GZMB CD8A CCR6
37	dengue hemorrhagic fever	31.4	IL10 CD8A CCR6
38	severe acute respiratory syndrome	31.3	IL10 IFNG CCL5
39	hepatitis a	31.3	IL10 IFNG HAVCR2
40	leukemia, acute myeloid	31.3	PRF1 IL10 IFNG HAVCR2 GZMB CD8A
41	herpes zoster	31.3	IL10 IFNG CD8A CCR6
42	chickenpox	31.2	IL10 IFNG CD8A CD27 CCR6
43	peripheral t-cell lymphoma	31.2	IL2RA GZMB CD8A CCR6
44	lymphoma, non-hodgkin, familial	31.2	SH2D1A PRF1 IL2RA GZMB CD8A CD27
45	aspergillosis	31.2	IL18 IL10 IFNG CCR6 CCL5
46	chediak-higashi syndrome	31.2	UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
47	aggressive nk-cell leukemia	31.2	PRF1 GZMB CD8A
48	anemia, autoimmune hemolytic	31.2	IL10 CD8A CD27 CCR6
49	lymphopenia	31.2	IL2RA IL10 IFNG CCR6
50	brucellosis	31.2	IL18 IL10 IFNG

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

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Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis:

ataxia; hemiplegia; icterus; seizures; bulging fontanelle

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.97	CD27 CD8A GZMB HAVCR2 IFNG IL10
2	immune system	MP:0005387	9.91	CCL5 CCR6 CD27 CD8A GZMB HAVCR2
3	hematopoietic system	MP:0005397	9.58	CCL5 CCR6 CD27 CD8A GZMB HAVCR2

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Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

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

(show top 50) (show all 94)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Etoposide

Approved

Phase 4

33419-42-0

36462

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 4

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

3003 5743

Pegaspargase

Approved, Investigational

Phase 4

130167-69-0

Cisplatin

Approved

Phase 4

15663-27-1

2767 5702198 441203

Gemcitabine

Approved

Phase 4

95058-81-4, 122111-03-9

60750

Antiviral Agents

Phase 4

Anti-Infective Agents

Phase 4

Antimetabolites

Phase 4

Immunosuppressive Agents

Phase 4

Immunologic Factors

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Etoposide phosphate

Phase 4

16760419

Hormones

Phase 4

Hormone Antagonists

Phase 4

Antiemetics

Phase 4

glucocorticoids

Phase 4

Anti-Inflammatory Agents

Phase 4

Gastrointestinal Agents

Phase 4

Immunoglobulins

Phase 4

Antibodies

Phase 4

interferons

Phase 4

Interferon-gamma

Phase 4

Antibodies, Monoclonal

Phase 4

Rue

Phase 4

Lenalidomide

Approved

Phase 3

191732-72-6

216326

Zanubrutinib

Approved, Investigational

Phase 3

1691249-45-2

135565884

Rituximab

Approved

Phase 3

174722-31-7

Doxorubicin

Approved, Investigational

Phase 3

23214-92-8

31703

Asparaginase Escherichia coli

Approved, Investigational

Phase 3

9015-68-3

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

Hydrocortisone-17-butyrate

Phase 3

Antineoplastic Agents, Immunological

Phase 3

Angiogenesis Inhibitors

Phase 3

Protein Kinase Inhibitors

Phase 3

Liposomal doxorubicin

Phase 3

Alkylating Agents

Phase 2, Phase 3

Antineoplastic Agents, Alkylating

Phase 2, Phase 3

Thymoglobulin

Phase 2, Phase 3

Vincristine

Approved, Investigational

Phase 2

2068-78-2, 57-22-7

5978

Cytarabine

Approved, Investigational

Phase 2

147-94-4

6253

Prednisolone phosphate

Approved, Vet_approved

Phase 1, Phase 2

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 1, Phase 2

52-21-1

Prednisolone

Approved, Vet_approved

Phase 1, Phase 2

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 1, Phase 2

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 1, Phase 2

83-43-2

4159 6741

Levoleucovorin

Approved, Experimental, Investigational

Phase 2

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methotrexate

Approved

Phase 2

1959-05-2, 59-05-2

4112 126941

Hydrocortisone succinate

Approved

Phase 2

2203-97-6

3643

Interventional clinical trials:

(show top 50) (show all 70)

#	Name	Status	NCT ID	Phase	Drugs
1	Clinical Study on the Treatment of Pediatric Hemophagocytic Lymphohistiocytosis Based on Cytokine Guided Risk Stratification：A Multicenter Randomized Controlled Study	Recruiting	NCT05491304	Phase 4	Dexamethasone;Etoposide;Ruxolitinib
2	A Prospective Clinical Study of Ruxolitinib Phosphate Tablets and Etoposide Combined With DDGP Regimen (RUE-DDGP) in Induction Therapy of T/NK Cell Lymphoma-associated Hemophagocytic Syndrome.	Recruiting	NCT04999878	Phase 4	Ruxolitinib, Etoposide, Dexamethasone, Gemcitabine, Pegaspargase, cis-platinum
3	A Clinical Trial of PD-1 Monoclonal Antibody as First-line Induction Therapy for EBV-associated Hemophagocytic Syndrome (EBV-HLH) or Chronic Active EBV Infection (CAEBV)	Recruiting	NCT05039580	Phase 4	PD-1 monoclonal antibody
4	A Prospective Study on the Modified DEP Regimen Induction Therapy in Lymphoma Induced Hemophagocytic Lymphohistiocytosis	Unknown status	NCT04077905	Phase 3	Pegylated liposomal doxorubicin;Etoposide;Methylprednisolone
5	A Randomized Controlled Trial of Etoposide in the First-line Treatment of Adult Epstein-barr Virus Associated Hemophagocytic Lymphohistiocytosis	Unknown status	NCT03742115	Phase 3	Etoposide;Dexamethasone;IVIG
6	L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis	Unknown status	NCT02631109	Phase 3	Pegaspargase;doxorubicin;etoposide;methylprednisolone
7	Clinical Study of Different Doses of Ruxolitinib as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis	Unknown status	NCT04120090	Phase 3	low dose ruxolitinib;high dose ruxolitinib
8	DEP-ruxolitinib Regimen as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis	Unknown status	NCT03533790	Phase 3	DEP-Ru
9	Hemophagocytic Lymphohistiocytosis	Unknown status	NCT00334672	Phase 3	busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
10	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
11	Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology	Unknown status	NCT02862054	Phase 2, Phase 3
12	A Multicenter Study for the Long-term Follow-up of HLH Patients Who Received Treatment With NI-0501, an Anti-interferon Gamma Monoclonal Antibody	Completed	NCT02069899	Phase 2, Phase 3	Emapalumab
13	HLH-2004 Treatment Protocol	Completed	NCT00426101	Phase 3	Dexamethasone;Etoposide;Cyclosporin
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	Completed	NCT01818492	Phase 2, Phase 3
15	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
16	Zanubrutinib Monotherapy in Patients With Hemophagocytic Lymphohistiocytosis	Recruiting	NCT05320575	Phase 3	Zanubrutinib
17	Rituximab Monotherapy for Epstein-Barr Virus Associated Hemophagocytic Lymphohistiocytosis and Chronic Active Epstein-Barr Virus Infection With Only and Mainly B Lymphocytes of EBV Infection	Recruiting	NCT05384743	Phase 3	Rituximab Monotherapy
18	A Two-cohort, Open-label, Single Arm, Multicenter Study to Evaluate Efficacy, Safety and Tolerability, PK and PD, of Emapalumab in Children and Adults With MAS in Still's Disease or With MAS in Systemic Lupus Erythematous	Recruiting	NCT05001737	Phase 3	Emapalumab
19	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	Active, not recruiting	NCT03312751	Phase 3	Emapalumab
20	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	Active, not recruiting	NCT03985423	Phase 2, Phase 3	Emapalumab-Lzsg
21	L-DEP/DEP Regimen and PD-1 Antibody as a Treatment for Relapse/Refractory EBV Associated Hemophagocytic Lymphohistiocytosis (HLH)	Not yet recruiting	NCT05315336	Phase 3	L-DEP and PD-1 antibody
22	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
23	Ruxolitinib Combined With Dexamethasone for Pediatric Refractory and Secondary Hemophagocytic Lymphohistiocytosis	Unknown status	NCT03795909	Phase 1, Phase 2	Ruxolitinib;Dexamethasone
24	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	Unknown status	NCT01818908	Phase 2	DA-EPOCH
25	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
26	Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204)	Completed	NCT01998633	Phase 2
27	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)
28	First Line Treatment of Familiar Lymphohistiocytosis by Alemtuzumab (CAMPATH®)	Completed	NCT02472054	Phase 1, Phase 2	Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
29	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
30	A Pilot, Open-label, Single Arm, Multicenter Study to Evaluate Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Administrations of Emapalumab, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Patients With Systemic Juvenile Idiopathic Arthritis (sJIA) or Adult-onset Still's Disease (AOSD) Developing Macrophage Activation Syndrome/Secondary HLH (MAS/sHLH)	Completed	NCT03311854	Phase 2	Emapalumab
31	Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome	Completed	NCT02400463	Phase 2	Ruxolitinib
32	Use Of A Response-Adapted Ruxolitinib-Containing Regimen For The Treatment Of Hemophagocytic Lymphohistiocytosis	Recruiting	NCT04551131	Phase 1, Phase 2	Ruxolitinib;Dexamethasone;Etoposide
33	An Open-label, Single-arm, Multicohort, Phase 2 Study to Assess the Efficacy and Safety of Tabelecleucel in Subjects With Epstein-Barr Virus-associated Diseases	Recruiting	NCT04554914	Phase 2
34	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
35	Alemtuzumab or Tocilizumab in Combination With Etoposide and Dexamethasone for the Treatment of Adult Patients With Hemophagocytic Lymphohistiocytosis	Active, not recruiting	NCT02385110	Phase 2	Alemtuzumab;Etoposide;Dexamethasone;Methotrexate;Tocilizumab
36	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
37	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	Active, not recruiting	NCT03513328	Phase 1, Phase 2	Thiotepa--single daily dose;Thiotepa--escalated dose
38	Cytokine Blockade With Tocilizumab in Patients With Cytokine Release Syndrome and Hemophagocytic Lymphohistiocytosis	Withdrawn	NCT02007239	Phase 2	tocilizumab
39	A Single-arm, Open-label, Phase I Study of TQ05105 Tablets in Subjects With Hemophagocytic Lymphohistiocytosis.	Unknown status	NCT04326348	Phase 1	TQ05105
40	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
41	Efficacy and Safety of Venetoclax Combined With Dexamethasone and Etoposide in the Treatment of Hemophagocytic Lymphohistiocytosis	Recruiting	NCT05546060	Phase 1	Venetoclax;Dexamethasone;Etoposide
42	A Phase 1b, Open-label, Single-arm, Multicenter Study to Evaluate the Safety, Efficacy, Pharmacokinetics and Pharmacodynamics of Multiple Doses of ELA026 in Adults and Adolescents With Secondary Hemophagocytic Lymphohistiocytosis (sHLH)	Recruiting	NCT05416307	Phase 1	ELA026
43	Administration of Haploidentical Donor T Cells Transduced With the Inducible Caspase-9 Suicide Gene	Active, not recruiting	NCT01494103	Phase 1	AP1903
44	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
45	Establishing a Covid-19 Prospective Cohort to Document Cases of Secondary Hemophagocytic Lymphohistiocytosis (sHLH, Synonoums to Macrophage Activation Syndrome)	Unknown status	NCT04347460
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	Comparison of Predictive Ability of New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome	Unknown status	NCT01095146
48	Early Detection of Epstein-Barr Virus Related Disease. Improving Quantification of EBV in Blood Samples Using Polymerase Chain Reaction.	Unknown status	NCT03546101
49	A Single-center, Open-label, Controlled Clinical Study to Evaluate the Efficacy and Safety of Jinyouli®(PEG-rhG-CSF) for the Recovery of Neutropenia After Chemotherapy in Patients With Hemophagocytic Syndrome	Unknown status	NCT04500886		PEG-rhG-CSF;rhG-CSF
50	Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity	Completed	NCT01125319

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis

Cell-based therapeutics:

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

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Genetic Tests for Hemophagocytic Lymphohistiocytosis

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Anatomical Context for Hemophagocytic Lymphohistiocytosis

Organs/tissues related to Hemophagocytic Lymphohistiocytosis:

MalaCards : Bone Marrow, T Cells, Bone, Liver, Nk Cells, Myeloid, Kidney

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Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 3993)

#	Title	Authors	PMID	Year
1	Prolonged course of familial hemophagocytic lymphohistiocytosis. ⁵³ ⁶² ⁵	Steinberg O...Tamary H	17164654	2006
2	Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. ⁵³ ⁶² ⁵	Lee SM...Filipovich AH	16860143	2006
3	Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. ⁵³ ⁶² ⁵	Zur Stadt U...Hennies HC	16278825	2006
4	A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. ⁵³ ⁶² ⁵	Voskoboinik I...Trapani JA	15755897	2005
5	The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India. ⁶² ⁵	Shabrish S...Madkaikar M	33746956	2021
6	Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy. ⁶² ⁵	Sato H...Mitsui T	31789783	2020
7	Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis. ⁶² ⁵	Blincoe A...Haddad E	32638196	2020
8	Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. ⁶² ⁵	Gadoury-Levesque V...Sun M	32542393	2020
9	Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China. ⁶² ⁵	Zhang J...Wang Z	32375849	2020
10	Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review. ⁶² ⁵	Sheth J...Sheth F	30849948	2019
11	Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. ⁶² ⁵	Chen X...Liu H	29665027	2018
12	Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis. ⁶² ⁵	Shibata H...Heike T	29549174	2018
13	Late-onset hemophagocytic lymphohistiocytosis with neurological presentation. ⁶² ⁵	Benezech S...Belot A	29152263	2017
14	Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease. ⁶² ⁵	Willenbring RC...Johnson AJ	28757574	2017
15	Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement. ⁶² ⁵	Giardino G...Pignata C	29312353	2017
16	A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients. ⁶² ⁵	Hori M...Heike T	27896523	2017
17	Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D. ⁶² ⁵	Gray PE...Voskoboinik I	28848550	2017
18	Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations. ⁶² ⁵	Tesi B...Meeths M	26184781	2015
19	Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India. ⁶² ⁵	Mhatre S...Ghosh K	25577959	2015
20	Unusual clinical presentations of familial hemophagocytic lymphohistiocytosis type-2. ⁶² ⁵	Mhatre S...Ghosh K	24390453	2014
21	Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. ⁶² ⁵	Zhang K...Filipovich AH	24916509	2014
22	Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency. ⁶² ⁵	Cichocki F...Bryceson YT	24842371	2014
23	Syntaxin binding mechanism and disease-causing mutations in Munc18-2. ⁶² ⁵	Hackmann Y...Griffiths GM	24194549	2013
24	Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. ⁶² ⁵	An O...Keskin O	23592409	2013
25	Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. ⁶² ⁵	Seo JY...Korea Histiocytosis Working Party	23180437	2013
26	Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. ⁶² ⁵	Sumegi J...Filipovich AH	23264592	2013
27	Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report. ⁶² ⁵	Yenicesu I...Dalgic B	24744671	2012
28	Spinal cord involvement in a child with familial hemophagocytic lymphohistiocytosis. ⁶² ⁵	Gokce M...Gumruk F	23560006	2012
29	Munc18b/STXBP2 is required for platelet secretion. ⁶² ⁵	Al Hawas R...Whiteheart SW	22791290	2012
30	Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease. ⁶² ⁵	Sanchez IP...Trujillo-Vargas CM	22437823	2012
31	Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). ⁶² ⁵	Pagel J...Janka G	22451424	2012
32	Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. ⁶² ⁵	Meeths M...Bryceson YT	21931115	2011
33	Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. ⁶² ⁵	Rohr J...Ehl S	20823128	2010
34	Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. ⁶² ⁵	Meeths M...Henter JI	20558610	2010
35	Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. ⁶² ⁵	Cote M...de Saint Basile G	19884660	2009
36	Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. ⁶² ⁵	Vermeulen MJ...van de Kamp JM	19595804	2009
37	Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. ⁶² ⁵	zur Stadt U...Hennies HC	19804848	2009
38	Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. ⁶² ⁵	Chia J...Voskoboinik I	19487666	2009
39	Severe course of community-acquired pneumonia in an adult patient who is heterozygous for Q481P in the perforin gene: are carriers of the mutation free of risk? ⁶² ⁵	Garcia-Astudillo LA...Lopez-Hoyos M	19639728	2009
40	Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. ⁶² ⁵	Horne A...Henter JI	18710388	2008
41	Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. ⁶² ⁵	Okur H...Gurgey A	18190960	2008
42	Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. ⁶² ⁵	Ueda I...Imashuku S	17266056	2007
43	Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. ⁶² ⁵	Marcenaro S...Pende D	16778144	2006
44	Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. ⁶² ⁵	Risma KA...Sumegi J	16374518	2006
45	A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis. ⁶² ⁵	Ueda I...Imashuku S	16443553	2006
46	Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8. ⁶² ⁵	Grossman WJ...Goldman FD	15840696	2005
47	Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis. ⁶² ⁵	Karandikar NJ...McKenna RW	15205266	2004
48	The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. ⁶² ⁵	Voskoboinik I...Trapani JA	15365097	2004
49	Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. ⁶² ⁵	Goransdotter Ericson K...Henter J	11179007	2001
50	Perforin gene defects in familial hemophagocytic lymphohistiocytosis. ⁶² ⁵	Stepp SE...Kumar V	10583959	1999

Sources

Genes for Hemophagocytic Lymphohistiocytosis

Genes related to Hemophagocytic Lymphohistiocytosis (3 elite genes):

(show top 50) (show all 54)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	UNC13D	Unc-13 Homolog D	Protein Coding	472.75	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16778144 16825436 21248318 (more) 21931115 23180437 23560006 24842371 27123661 27896523 28848550 29312353 29549174 33746956 32542393 20823128 16278825
2	PRF1	Perforin 1	Protein Coding	472.43	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	10583959 11179007 11565555 (more) 12060139 14757862 15205266 15365097 15755897 16374518 16443553 16860143 17164654 17266056 17873118 18190960 18710388 19487666 19595804 22437823 23255033 23264592 23592409 24390453 24744671 24916509 26184781 27622035 29665027 30849948 31395954 31789783 32375849 32638196 33365035 33746956 15840696 16278825 19639728 25577959 28757574 29152263 18311812 12229880 20092789 17606450
3	STXBP2	Syntaxin Binding Protein 2	Protein Coding	462.01	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	19804848 20823128 22451424 (more) 20558610 19884660 32542393 24194549 22791290
4	STX11	Syntaxin 11	Protein Coding	37.2	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
5	SH2D1A	SH2 Domain Containing 1A	Protein Coding	26.09	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11159547
6	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	25.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18311812 11571516 16278825 (more) 18991284 17088644
7	HAVCR2	Hepatitis A Virus Cellular Receptor 2	Protein Coding	21.55	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
8	IL18	Interleukin 18	Protein Coding	19.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11699209
9	HPLH1	Hemophagocytic Lymphohistiocytosis 1	Genetic Locus	17.4	GeneCards inferred via : Publications Gene name (show sections)
10	FHL2	Four And A Half LIM Domains 2	Protein Coding	16.05	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	IFNG	Interferon Gamma	Protein Coding	14.77	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	IL10	Interleukin 10	Protein Coding	14.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	GZMB	Granzyme B	Protein Coding	14.12	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	LAMP1	Lysosomal Associated Membrane Protein 1	Protein Coding	13.85	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	CD27	CD27 Molecule	Protein Coding	13.79	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
16	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	13.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19576122 15863596 20511152 (more) 8541568
17	CCL5	C-C Motif Chemokine Ligand 5	Protein Coding	12.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	8.26	DISEASES inferred ¹⁴ ¹⁴
19	LYST	Lysosomal Trafficking Regulator	Protein Coding	7.92	DISEASES inferred ¹⁴
20	CD8A	CD8a Molecule	Protein Coding	7.46	DISEASES inferred ¹⁴
21	IL6	Interleukin 6	Protein Coding	7.44	DISEASES inferred ¹⁴
22	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	7.18	DISEASES inferred ¹⁴
23	AP3B1	Adaptor Related Protein Complex 3 Subunit Beta 1	Protein Coding	7.12	DISEASES inferred ¹⁴
24	IL2	Interleukin 2	Protein Coding	7.07	DISEASES inferred ¹⁴
25	CRP	C-Reactive Protein	Protein Coding	7.04	DISEASES inferred ¹⁴
26	TNF	Tumor Necrosis Factor	Protein Coding	6.93	DISEASES inferred ¹⁴
27	CD4	CD4 Molecule	Protein Coding	6.92	DISEASES inferred ¹⁴
28	CSF3	Colony Stimulating Factor 3	Protein Coding	6.77	DISEASES inferred ¹⁴
29	IL7	Interleukin 7	Protein Coding	6.75	DISEASES inferred ¹⁴
30	ACE2	Angiotensin Converting Enzyme 2	Protein Coding	6.66	DISEASES inferred ¹⁴
31	IL1B	Interleukin 1 Beta	Protein Coding	6.66	DISEASES inferred ¹⁴
32	MAGT1	Magnesium Transporter 1	Protein Coding	6.6	DISEASES inferred ¹⁴
33	CCL3	C-C Motif Chemokine Ligand 3	Protein Coding	6.59	DISEASES inferred ¹⁴
34	CD19	CD19 Molecule	Protein Coding	6.55	DISEASES inferred ¹⁴
35	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	6.54	DISEASES inferred ¹⁴ ¹⁴
36	CXCL10	C-X-C Motif Chemokine Ligand 10	Protein Coding	6.53	DISEASES inferred ¹⁴
37	CSF2	Colony Stimulating Factor 2	Protein Coding	6.45	DISEASES inferred ¹⁴
38	UNC13B	Unc-13 Homolog B	Protein Coding	6.42	DISEASES inferred ¹⁴
39	SLAMF1	Signaling Lymphocytic Activation Molecule Family Member 1	Protein Coding	6.37	DISEASES inferred ¹⁴
40	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	6.36	DISEASES inferred ¹⁴
41	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	6.34	DISEASES inferred ¹⁴
42	JAK1	Janus Kinase 1	Protein Coding	6.3	DISEASES inferred ¹⁴
43	GPT	Glutamic--Pyruvic Transaminase	Protein Coding	6.29	DISEASES inferred ¹⁴
44	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	6.27	DISEASES inferred ¹⁴
45	ITK	IL2 Inducible T Cell Kinase	Protein Coding	6.27	DISEASES inferred ¹⁴
46	F3	Coagulation Factor III, Tissue Factor	Protein Coding	6.24	DISEASES inferred ¹⁴
47	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	6.18	DISEASES inferred ¹⁴
48	NLRC4	NLR Family CARD Domain Containing 4	Protein Coding	6.13	DISEASES inferred ¹⁴
49	CD163	CD163 Molecule	Protein Coding	6.12	DISEASES inferred ¹⁴
50	FCGR3A	Fc Gamma Receptor IIIa	Protein Coding	6.1	DISEASES inferred ¹⁴

Sources

Variations for Hemophagocytic Lymphohistiocytosis

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis:

⁵ (show top 50) (show all 55)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	UNC13D	NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly)	SNV	Pathogenic	445606	rs754621494	GRCh37: 17:73831491-73831491 GRCh38: 17:75835410-75835410
2	PRF1	NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)	SNV	Pathogenic	976231	rs758110629	GRCh37: 10:72358696-72358696 GRCh38: 10:70598940-70598940
3	PRF1	NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	SNV	Pathogenic	280112	rs751247865	GRCh37: 10:72358811-72358811 GRCh38: 10:70599055-70599055
4	PRF1	NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)	SNV	Pathogenic	1067731		GRCh37: 10:72358249-72358249 GRCh38: 10:70598493-70598493
5	PRF1	NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	SNV	Pathogenic	802584	rs776299562	GRCh37: 10:72360511-72360511 GRCh38: 10:70600755-70600755
6	PRF1	NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)	SNV	Pathogenic	548929	rs768849283	GRCh37: 10:72360273-72360273 GRCh38: 10:70600517-70600517
7	UNC13D	NM_199242.3(UNC13D):c.118-308C>T	SNV	Pathogenic	533095	rs959968589	GRCh37: 17:73839908-73839908 GRCh38: 17:75843827-75843827
8	UNC13D	NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys)	SNV	Pathogenic	533094	rs750811263	GRCh37: 17:73832711-73832711 GRCh38: 17:75836630-75836630
9	STXBP2	NM_006949.4(STXBP2):c.1247-1G>C	SNV	Pathogenic	330555	rs140148806	GRCh37: 19:7710082-7710082 GRCh38: 19:7645196-7645196
10	PRF1	NM_001083116.3(PRF1):c.50del (p.Leu17fs)	DEL	Pathogenic	468305	rs147035858	GRCh37: 10:72360609-72360609 GRCh38: 10:70600853-70600853
11	PRF1	NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	SNV	Pathogenic	13711	rs28933973	GRCh37: 10:72358804-72358804 GRCh38: 10:70599048-70599048
12	UNC13D	NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)	SNV	Likely Pathogenic	664792	rs1157287613	GRCh37: 17:73838563-73838563 GRCh38: 17:75842482-75842482
13	STXBP2	NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)	SNV	Likely Pathogenic	579782	rs930347206	GRCh37: 19:7705849-7705849 GRCh38: 19:7640963-7640963
14	STXBP2	NM_006949.4(STXBP2):c.247-2A>C	SNV	Likely Pathogenic	857426	rs921624651	GRCh37: 19:7705615-7705615 GRCh38: 19:7640729-7640729
15	UNC13D	NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)	SNV	Likely Pathogenic	632290	rs377293829	GRCh37: 17:73831518-73831518 GRCh38: 17:75835437-75835437
16	PRF1	NM_001083116.3(PRF1):c.3G>A (p.Met1Ile)	SNV	Likely Pathogenic	1301336		GRCh37: 10:72360656-72360656 GRCh38: 10:70600900-70600900
17	PRF1	NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg)	SNV	Likely Pathogenic	1683276		GRCh37: 10:72358294-72358294 GRCh38: 10:70598538-70598538
18	PRF1	NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)	DUP	Likely Pathogenic	1020734	rs1564723449	GRCh37: 10:72357848-72357849 GRCh38: 10:70598092-70598093
19	PRF1	NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)	SNV	Likely Pathogenic	1331382		GRCh37: 10:72358035-72358035 GRCh38: 10:70598279-70598279
20	PRF1	NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter)	SNV	Likely Pathogenic	667424	rs1589233357	GRCh37: 10:72360403-72360403 GRCh38: 10:70600647-70600647
21	PRF1	NM_001083116.3(PRF1):c.985dup (p.Val329fs)	DUP	Likely Pathogenic	974965	rs1848171715	GRCh37: 10:72358491-72358492 GRCh38: 10:70598735-70598736
22	PRF1	NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs)	MICROSAT	Likely Pathogenic	1027586	rs1361687182	GRCh37: 10:72358286-72358287 GRCh38: 10:70598530-70598531
23	PRF1	NM_001083116.3(PRF1):c.91T>G (p.Cys31Gly)	SNV	Likely Pathogenic	1192232		GRCh37: 10:72360568-72360568 GRCh38: 10:70600812-70600812
24	STX11	NM_003764.4(STX11):c.*1221dup	DUP	Conflicting Interpretations Of Pathogenicity	355616	rs397725572	GRCh37: 6:144509845-144509846 GRCh38: 6:144188708-144188709
25	STX11	NM_003764.4(STX11):c.*3104del	DEL	Uncertain Significance	355645	rs558797705	GRCh37: 6:144511721-144511721 GRCh38: 6:144190584-144190584
26	STX11	NM_003764.4(STX11):c.*1253dup	DUP	Uncertain Significance	355617	rs11356106	GRCh37: 6:144509862-144509863 GRCh38: 6:144188725-144188726
27	STX11	NM_003764.4(STX11):c.939_942del	DEL	Uncertain Significance	355612	rs886061145	GRCh37: 6:144509564-144509567 GRCh38: 6:144188427-144188430
28	STX11	NM_003764.4(STX11):c.3103_3104del	DEL	Uncertain Significance	355646	rs558797705	GRCh37: 6:144511721-144511722 GRCh38: 6:144190584-144190585
29	STX11	NM_003764.4(STX11):c.4053_4054dup	DUP	Uncertain Significance	355660	rs397795966	GRCh37: 6:144512671-144512672 GRCh38: 6:144191534-144191535
30	STX11	NM_003764.4(STX11):c.*2157GAG[1]	MICROSAT	Uncertain Significance	355633	rs886061152	GRCh37: 6:144510783-144510785 GRCh38: 6:144189646-144189648
31	STX11	NM_003764.4(STX11):c.*3336T>C	SNV	Uncertain Significance	355650	rs886061161	GRCh37: 6:144511964-144511964 GRCh38: 6:144190827-144190827
32	STX11	NM_003764.4(STX11):c.*1254del	DEL	Uncertain Significance	355619	rs886061148	GRCh37: 6:144509882-144509882 GRCh38: 6:144188745-144188745
33	STX11	NM_003764.4(STX11):c.*2014del	DEL	Uncertain Significance	355632	rs886061151	GRCh37: 6:144510640-144510640 GRCh38: 6:144189503-144189503
34	STX11	NM_003764.4(STX11):c.*770C>T	SNV	Uncertain Significance	355610	rs886061144	GRCh37: 6:144509398-144509398 GRCh38: 6:144188261-144188261
35	STX11	NM_003764.4(STX11):c.1251_1253dup	DUP	Uncertain Significance	355618	rs11356106	GRCh37: 6:144509862-144509863 GRCh38: 6:144188725-144188726
36	STXBP2	NM_006949.4(STXBP2):c.578+11dup	DUP	Uncertain Significance	330549	rs886054704	GRCh37: 19:7706746-7706747 GRCh38: 19:7641860-7641861
37	STX11	NM_003764.4(STX11):c.*2657TTC[2]	MICROSAT	Uncertain Significance	355638	rs886061154	GRCh37: 6:144511284-144511286 GRCh38: 6:144190147-144190149
38	STX11	NM_003764.4(STX11):c.-71C>T	SNV	Uncertain Significance	355596	rs886061140	GRCh37: 6:144471775-144471775 GRCh38: 6:144150638-144150638
39	STX11	NM_003764.4(STX11):c.*3104dup	DUP	Uncertain Significance	355644	rs558797705	GRCh37: 6:144511720-144511721 GRCh38: 6:144190583-144190584
40	STXBP2	NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)	SNV	Uncertain Significance	330552	rs370890802	GRCh37: 19:7707663-7707663 GRCh38: 19:7642777-7642777
41	UNC13D	NM_199242.3(UNC13D):c.1596+15C>G	SNV	Uncertain Significance	325262	rs574478720	GRCh37: 17:73831921-73831921 GRCh38: 17:75835840-75835840
42	STXBP2	NM_006949.4(STXBP2):c.849G>A (p.Glu283=)	SNV	Uncertain Significance	260110	rs34450592	GRCh37: 19:7707369-7707369 GRCh38: 19:7642483-7642483
43	STX11	NM_003764.4(STX11):c.24_26del (p.Leu9del)	DEL	Uncertain Significance	355597	rs760492745	GRCh37: 6:144507786-144507788 GRCh38: 6:144186649-144186651
44	STXBP2	NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)	SNV	Uncertain Significance	330559	rs35490401	GRCh37: 19:7712287-7712287 GRCh38: 19:7647401-7647401
45	STXBP2	NM_006949.4(STXBP2):c.495C>T (p.Arg165=)	SNV	Likely Benign	260105	rs2303116	GRCh37: 19:7706656-7706656 GRCh38: 19:7641770-7641770
46	STX11	NM_003764.3(STX11):c.*4457G>A	SNV	Likely Benign	369515	rs59612420	GRCh37: 6:144513085-144513085 GRCh38: 6:144191948-144191948
47	STX11	NM_003764.4(STX11):c.*1540dup	DUP	Likely Benign	355626	rs149740241	GRCh37: 6:144510162-144510163 GRCh38: 6:144189025-144189026
48	STX11	NM_003764.4(STX11):c.*3036ATAA[1]	MICROSAT	Likely Benign	355643	rs146440209	GRCh37: 6:144511663-144511666 GRCh38: 6:144190526-144190529
49	STX11	NM_003764.4(STX11):c.*4054dup	DUP	Benign	355659	rs397795966	GRCh37: 6:144512671-144512672 GRCh38: 6:144191534-144191535
50	PRF1	NM_001083116.3(PRF1):c.*209del	DEL	Benign	300321	rs34914326	GRCh37: 10:72357600-72357600 GRCh38: 10:70597844-70597844

Sources

Expression for Hemophagocytic Lymphohistiocytosis

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis.

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Pathways for Hemophagocytic Lymphohistiocytosis

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

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.55	CCL5 CCR6 CD27 CD8A HAVCR2 IFNG
2	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.16	STXBP2 IL2RA IL18 IL10 IFNG HAVCR2
3	NF-kappaB Signaling ³	12.07	SH2D1A IL2RA IL10 IFNG HAVCR2 GZMB
4	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.92	LAMP1 IL2RA IL10 IFNG CD8A
5	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.88	IL2RA IL18 IFNG GZMB CD8A
6	IL27-mediated signaling events ⁶¹ Show member pathways IL12 signaling pathway ⁶⁷ Th1 Differentiation ⁶⁵	11.77	IL18 IL10 IFNG
7	Allograft rejection ⁷⁴	11.73	PRF1 IL2RA IL10 IFNG GZMB
8	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.61	IL10 IFNG CD8A
9	Inflammatory bowel disease signaling ⁷⁴ Show member pathways Ulcerative colitis signaling ⁷⁴	11.5	IL18 IL10 IFNG
10	SARS-CoV-2 innate immunity evasion and cell-specific immune response ⁷⁴	11.43	IL10 HAVCR2 CCL5
11	THC Differentiation Pathway ⁶⁴	11.41	IFNG IL10 IL18 IL2RA
12	Interleukin-10 signaling ⁶⁶	11.38	IL18 IL10 CCL5
13	Th2 Differentiation ⁶⁵	11.36	IL2RA IL10 IFNG
14	IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵ Show member pathways IL-2 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.26	GZMB IFNG IL10 IL2RA
15	Immune response_IL-12 signaling pathway ²²	11.07	PRF1 IL2RA IFNG
16	Innate Lymphoid Cells Differentiation ⁶⁵	11.07	IL2RA IL18 IL10 IFNG GZMB CD8A
17	Interactions of natural killer cells in pancreatic cancer ⁷⁴	11.05	PRF1 IFNG GZMB CCL5
18	IL12 signaling mediated by STAT4 ⁶¹	10.99	PRF1 IL2RA IL18 IFNG
19	Deregulation of Rab and Rab effector genes in bladder cancer ⁷⁴	10.8	UNC13D RAB27A
20	wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) ²²	10.66	UNC13D RAB27A
21	RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) ⁶⁶	10.58	IL2RA IFNG

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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	extracellular region	GO:0005576	10.2	UNC13D STXBP2 RAB27A PRF1 IL18 IL10
2	Weibel-Palade body	GO:0033093	9.26	UNC13D RAB27A
3	cytolytic granule	GO:0044194	9.17	STXBP2 PRF1 LAMP1 GZMB

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular defense response	GO:0006968	9.99	SH2D1A PRF1 CCR6
2	positive regulation of chemokine production	GO:0032722	9.88	IL18 IFNG HAVCR2
3	negative regulation of T cell proliferation	GO:0042130	9.85	HAVCR2 IL10 IL2RA
4	immune response	GO:0006955	9.85	IL2RA IL18 IL10 IFNG CD8A CCR6
5	natural killer cell degranulation	GO:0043320	9.83	UNC13D RAB27A
6	type 2 immune response	GO:0042092	9.8	IL18 IL10
7	granzyme-mediated programmed cell death signaling pathway	GO:0140507	9.78	LAMP1 GZMB
8	positive regulation of killing of cells of another organism	GO:0051712	9.76	PRF1 IFNG
9	negative regulation of interferon-alpha production	GO:0032687	9.73	IL10 HAVCR2
10	positive regulation of regulated secretory pathway	GO:1903307	9.62	UNC13D RAB27A
11	negative regulation of myeloid dendritic cell activation	GO:0030886	9.56	IL10 HAVCR2
12	exocytosis	GO:0006887	9.56	UNC13D STXBP2 STX11 RAB27A CCL5
13	natural killer cell mediated cytotoxicity	GO:0042267	9.23	SH2D1A LYST IL18 GZMB