Severe Congenital Neutropenia malady

Genetics Home Reference: Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood.¹⁷

MalaCards: Severe Congenital Neutropenia, also known as infantile genetic agranulocytosis, is related to cyclic hematopoiesis and felty's syndrome. An important gene associated with Severe Congenital Neutropenia is HAX1 (HCLS1 associated protein X-1), and among its related pathways are Fc epsilon RI signaling pathway and Jak/Stat Pathway. The drugs filgrastim and amphotericin b and the compounds nadph and pegfilgrastim have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, liver and lung, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Aliases & Descriptions:

severe congenital neutropenia 6 16 17 8 43 infantile genetic agranulocytosis 17 neutropenia, severe congenital 32 kostmann's agranulocytosis 17 congenital agranulocytosis 17 neonatal hemochromatosis 43

congenital neutropenia 17 kostmann's syndrome 17 kostmanns syndrome 32 kostmann disease 17 agranulocytosis 43 neutropenia 43

Diseases related to severe congenital neutropenia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 518)

id	Related Disease	Score	Top Affiliating Genes
1	cyclic hematopoiesis	32.7	IL3, ELANE, CSF2, CSF3
2	felty's syndrome	30.4	IL3, IL8, CSF2, CSF3
3	hodgkin's lymphoma	29.9	BCL2, JAK2, IL3, CSF2, CSF3
4	myelokathexis	29.6	G6PC3, CXCR4, CSF2, CSF3
5	glycogen storage disease	29.4	IL8, G6PC3, CSF2, CSF3
6	periodontitis	29.4	CD14, FCGR3A, IL8, TNF, ELANE, CXCR4
7	granulocytopenia	28.9	IL3, TNF, CSF2, CSF3
8	systemic lupus erythematosus	28.2	GUSB, FCGR1A, FCGR3A, TNF, PTPN11, PTPN6
9	non-hodgkin lymphoma	28.2	BIRC5, BCL2, JAK2, CD14, FCGR3A, IL3
10	periodontal disease	27.5	CD14, GUSB, IL8, CAMP, TNF, ELANE
11	aplastic anemia	27.1	IL3, TNF, CSF2, CSF3, CSF3R
12	myelodysplastic syndrome	26.9	BIRC5, JAK2, IL3, PTPN11, STAT5A, CSF2
13	large granular lymphocyte leukemia	26.8	BCL2, IL8, TNF, CSF2, CSF3
14	viral hepatitis	26.7	CISH, CD14, TNF, ELANE, CSF3, SLPI
15	septic shock	26.7	CD14, TNF
16	neutropenia	26.3	WAS, N4BP2L2, RAC2, BIRC5, BCL2, LEF1
17	aspergillosis	26.1	TNF, ELANE, CSF2, CSF3, SLPI
18	rheumatoid arthritis, association with	26.1	GUSB, IL8, TNF, CSF3
19	cellulitis	26.0	IL3, CAMP, TNF, CSF3, C5AR1
20	hemolytic-uremic syndrome	26.0	GUSB, IL8, TNF, ELANE, CSF3
21	anemia	25.9	BCL2, JAK2, CD14, GUSB, IL3, IL8
22	acquired immunodeficiency syndrome	25.6	CD14, FCGR1A, CXCR4, SLPI, C5AR1
23	sepsis	25.4	CISH, CD14, FPR1, FCGR1A, FCGR3A, IL8
24	dengue hemorrhagic fever	25.4	JAK2, IL8, TNF, PTPN11, CSF3
25	ulcerative colitis	25.3	CD14, GUSB, IL8, TNF, ELANE
26	papilloma	25.3	BIRC5, BCL2, GUSB, CSF2, SLPI
27	leukopenia	25.2	GUSB, IL3, TNF, ELANE, CSF2, CSF3
28	hemorrhagic fever	25.1	JAK2, IL8, TNF, PTPN11, CSF3, SLPI
29	b-cell lymphomas	25.1	BIRC5, BCL2, JAK2, CD14, PTPN6, STAT5A
30	hemophagocytic lymphohistiocytosis	25.1	IL8, TNF, PTPN6, CSF2, CSF3
31	thrombocytopenia	25.0	WAS, GUSB, FCGR1A, FCGR3A, IL3, IL8
32	purpura	24.9	FCGR1A, FCGR3A, IL8, TNF, NR0B2, CXCR4
33	t-cell leukemia	24.6	BIRC5, BCL2, IL3, DYT10, PTPN6, STAT5A
34	measles	24.5	CISH, JAK2, IL8, TNF, PTPN11, PTPN6
35	acute lymphoblastic leukemia	24.3	BIRC5, BCL2, CEBPE, JAK2, IL3, IL8
36	blindness	24.3	GUSB, IL3, IL8, TNF, DYT10, ELANE
37	respiratory failure	24.2	IL3, IL8, TNF, PTPN11, ELANE, CSF2
38	acute myeloid leukemia	24.2	RAC2, BIRC5, BCL2, LEF1, CEBPE, JAK2
39	gingivitis	24.0	BCL2, CD14, GUSB, IL8, CAMP, TNF
40	chronic lymphocytic leukemia	23.8	BIRC5, BCL2, LEF1, JAK2, DYT10, CXCR4
41	myeloid leukemia	23.3	RAC2, BIRC5, BCL2, LEF1, CEBPE, JAK2
42	leukemia	23.2	RAC2, BIRC5, BCL2, LEF1, CISH, CEBPE
43	lymphoblastic leukemia	23.2	BIRC5, BCL2, LEF1, CEBPE, JAK2, GUSB
44	neuropathy	22.6	IL3, IL8, TNF, DYT10, PTPN3, CXCR4
45	lupus erythematosus	22.4	BCL2, CISH, CD14, GUSB, FCGR1A, FCGR3A
46	dermatitis	22.3	BCL2, CD14, FCGR1A, FCGR3A, IL3, IL8
47	vascular disease	22.0	BCL2, CISH, CD14, GUSB, IL8, TNF
48	noma	21.7	BIRC5, BCL2, IL3, IL8, TNF, DYT10
49	lymphocytic leukemia	21.6	BIRC5, BCL2, LEF1, JAK2, CD14, FCGR3A
50	rheumatoid arthritis	21.4	BIRC5, BCL2, CISH, JAK2, CD14, GUSB

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 amphotericin b, amphotericin b cholesteryl sulfate, amphotericin b lipid complex, amphotericin b liposome, cefepime, cefepime hydrochloride, ceftazidime, ciprofloxacin, ciprofloxacin hydrochloride, filgrastim, globulin,immune (iv), itraconazole, meropenem, vancomycin, vancomycin hydrochloride

MalaCards organs/tissues related to severe congenital neutropenia:

²²

MGI Mouse Phenotypes related to severe congenital neutropenia:

²⁵ (show all 13)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	9.8	G6PC3, PTPN6, ARHGDIB, GUSB, WAS
2	respiratory system phenotype	MP:0005388	9.7	PTPN6, INPP5D, CD14, CEBPE
3	reproductive system phenotype	MP:0005389	7.7	C5AR1, CSF2, STAT5A, NR0B2, PTPN6, PTPN11
4	hematopoietic system phenotype	MP:0005397	7.6	HAX1, WAS, RAC2, BCL2, CEBPE, ARHGDIB
5	skeleton phenotype	MP:0005390	7.6	PTPN11, PTPN6, CXCR4, CSF2, C5AR1, PTPN3
6	adipose tissue phenotype	MP:0005375	7.5	STAT5A, PTPN11, TNF, GUSB, CD14, LEF1
7	immune system phenotype	MP:0005387	7.4	HAX1, C5AR1, CSF3R, WAS, RAC2, CEBPE
8	tumorigenesis	MP:0002006	7.1	CSF2, STAT5A, ELANE, PTPN11, TNF, IL3
9	mortality/aging	MP:0010768	6.9	PTPN6, ELANE, G6PC3, GFI1, STAT5A, CSF2
10	integument phenotype	MP:0010771	6.7	CSF3, CSF2, STAT5A, PTPN6, PTPN11, TNF
11	growth/size phenotype	MP:0005378	5.7	PTPN6, NR0B2, G6PC3, GFI1, STAT5A, CXCR4
12	cellular phenotype	MP:0005384	4.7	PTPN11, PTPN6, RHOA, GFI1, STAT5A, CXCR4
13	homeostasis/metabolism phenotype	MP:0005376	4.7	PTPN11, PTPN6, NR0B2, ELANE, G6PC3, STAT5A

Articles related to severe congenital neutropenia:

(show top 50)    (show all 104)

id	Title	Authors	Year	Affiliating Genes
1	Genetic etiologies of severe congenital neutropenia. (21206270)	Boztug K.... Klein C.	2011	ELANE, HAX1, G6PC3
2	Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for p henotype determination by modifying genes. (20582973)	Newburger P.E.... Boxer L.A.	2010	ELANE
3	Novel HAX1 gene mutations associated to neurodevelopm ent abnormalities in two Italian patients with severe congenital neutropenia. (20065084)	Lanciotti M.... Dufour C.	2010	HAX1
4	Severe congenital neutropenia resulting from G6PC3 de ficiency with increased neutrophil CXCR4 expression and myelokathexis. (20616219)	McDermott D.H.... Murphy P.M.	2010	CXCR4, G6PC3
5	Genetic and molecular diagnosis of severe congenital neutropenia. (19057199)	Ward A.C.... Dale D.C.	2009	ELANE, CSF3R
6	A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). (19796188)	Faiyaz-Ul-Haque M.... Zaidi S.H.	2009	HAX1
7	A novel mutation Ala57Val of the ELA2 gene in a Korea n boy with severe congenital neutropenia. (18946670)	Lee S.T.... Im H.J.	2009	ELANE
8	Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy. (19694719)	LundAcn L.... Fadeel B.	2009	CSF3, ELANE
9	Severe congenital neutropenia. (19327585)	Welte K.... Zeidler C.	2009	CSF3R
10	Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. (18611981)	Ishikawa N.... Kobayashi M.	2008	GFI1, HAX1
11	Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation. (18354489)	Yetgin S.... Germeshausen M.	2008	CSF3
12	Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. (18513342)	Carlsson G.... Henter J.I.	2008	HAX1
13	Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. (17761833)	Grenda D.S.... Link D.C.	2007	ELANE
14	Severe congenital neutropenia: new genes explain an old disease. (17917547)	Bohn G.... Klein C.	2007	ELANE
15	G-CSF treatment of severe congenital neutropenia reve rses neutropenia but does not correct the underlying functional deficiency of t he neutrophil in defending against microorganisms. (17311988)	Donini M.... Badolato R.	2007	CSF3
16	Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency. (18055975)	Matsubara K.... Kobayashi M.	2007	HAX1
17	Severe congenital neutropenia: inheritance and pathophysiology. (17133096)	Skokowa J.... Welte K.	2007	LEF1, ELANE, CSF3R
18	A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter. (16795059)	Matsushita H.... Miyachi H.	2006	ELANE
19	Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. (16737875)	Boxer L.A.... Dale D.C.	2006	ELANE
20	Increased CCAAT enhancer-binding protein epsilon (C/EBPepsilon) expression and premature apoptosis in myeloid cells expressing Gfi-1 N382S mutant associated with severe congenital neutropenia. (16500901)	Zhuang D.... Dong F.	2006	CSF3, GFI1, CEBPE
21	Severe congenital neutropenia: genetics and pathogenesis. (18528462)	Boxer L.A.	2006	ELANE
22	The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. (16497969)	Rosenberg P.S.... Dale D.C.	2006	CSF3
23	Heterogeneous expression pattern of pro- and anti-apoptotic factors in myeloid progenitor cells of patients with severe congenital neutropenia treated with granulocyte colony-stimulating factor. (15813856)	Cario G.... Welte K.	2005	CSF3
24	Periodontal status in two siblings with severe congenital neutropenia: diagnosis and mutational analysis of the cases. (15898946)	Hakki S.S.... Somerman M.J.	2005	GFI1
25	A novel mutation in the juxtamembrane intracellular sequence of the granulocyte colony-stimulating factor (G-CSF) receptor gene in a patient with severe congenital neutropenia augments GCSF proliferation activity but not through the MAP kinase cascade. (16229088)	Yokoyama T.... Shimoda K.	2005	CSF3
26	Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. (15657182)	Massullo P.... Avalos B.R.	2005	ELANE
27	Neutrophil elastase mutations in severe congenital neutropenia patients of the original Kostmann family. (12531802)	Aprikyan A.A.... Henter J.I.	2004	ELANE
28	Loss of SHIP and CIS recruitment to the granulocyte colony-stimulating factor receptor contribute to hyperproliferative responses in severe congenital neutropenia/acute myelogenous leukemia. (15470047)	Hunter M.G.... Avalos B.R.	2004	INPP5D, CSF3R, CISH
29	The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: case reports. (12731605)	TAPzA1m T.F.... Sanal O.	2003	CSF3
30	Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring. (12181069)	Benson K.F.... Horwitz M.	2002	ELANE
31	Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis. (12384420)	Grenda D.S.... Link D.C.	2002	ELANE
32	Defects of granulopoiesis in patients with severe congenital neutropenia. (12422946)	Nakamura K.... Ueda K.	2002	CSF3, CSF3R
33	The carboxyl terminus of the granulocyte colony-stimulating factor receptor, truncated in patients with severe congenital neutropenia/acute myeloid leukemia, is required for SH2-containing phosphatase-1 suppression of Stat activation. (11714811)	Dong F.... Larner A.C.	2001	CSF3R
34	Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. (11675333)	Ancliff P.J.... Linch D.C.	2001	ELANE
35	Granulocyte colony-stimulating factor receptor mutations in severe congenital neutropenia transforming to acute myelogenous leukemia confer resistance to apoptosis and enhance cell survival. (10706885)	Hunter M.G.... Avalos B.R.	2000	CSF3R
36	Defective internalization and sustained activation of truncated granulocyte colony-stimulating factor receptor found in severe congenital neutropenia/acute myeloid leukemia. (9885206)	Ward A.C.... Touw I.P.	1999	CSF3R
37	Structural abnormalities in the G-CSF receptor in severe congenital neutropenia. (10634179)	Deshpande R.V.... Moore M.A.	1999	CSF3R
38	Mutations of the granulocyte-colony stimulating factor receptor in patients with severe congenital neutropenia are not required for transformation to acute myeloid leukaemia and may be a bystander phenomenon. (9576194)	Bernard T.... Linch D.C.	1998	CSF3R
39	Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia. (9691084)	McLemore M.L.... Link D.C.	1998	CSF3, CSF3R
40	Severe congenital neutropenia patients with point mutations in the granulocyte colony-stimulating factor (G-CSF) receptor mRNA express a normal G-CSF receptor protein. (9326253)	Kasper B.... Welte K.	1997	CSF3
41	Lack of alterations in the cytoplasmic domains of the granulocyte colony-stimulating factor receptors in eight cases of severe congenital neutropenia. (7833487)	Sandoval C.... Adams-Graves P.	1995	CSF3R
42	Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. (7542747)	Dong F.... Touw I.P.	1995	CSF3R
43	Osteoporosis in severe congenital neutropenia treated with granulocyte colony-stimulating factor. (7539627)	Bishop N.J.... Prentice A.	1995	CSF3
44	The protein tyrosine kinase JAK2 is activated in neutrophils from patients with severe congenital neutropenia. (8541539)	Rauprich P.... Welte K.	1995	JAK2, CSF3
45	Severe congenital neutropenia unresponsive to G-CSF. (7577650)	Ryan M.... Darbyshire P.J.	1995	CSF3
46	Identification of a nonsense mutation in the granulocyte-colony- stimulating factor receptor in severe congenital neutropenia. (7514305)	Dong F.... Lowenberg B.	1994	CSF3R
47	Increased cytokine levels and abnormal response of myeloid progenitor cells to granulocyte colony-stimulating factor in a case of severe congenital neutropenia. In vitro effects of stem cell factor. (7513137)	Shitara T.... Kuroume T.	1994	CSF3
48	Assessment of G-CSF and GM-CSF mRNA expression in peripheral blood mononuclear cells from patients with severe congenital neutropenia and in human myeloid leukemic cell lines. (7678086)	Bernhardt T.M.... Welte K.	1993	CSF3
49	Altered function and surface marker expression of neutrophils induced by rhG-CSF treatment in severe congenital neutropenia. (1370419)	Elsner J.... Welte K.	1992	IL8, CD14, FPR1
50	Blood mononuclear cells from patients with severe congenital neutropenia are capable of producing granulocyte colony-stimulating factor. (1705835)	Pietsch T.... Welte K.	1991	CSF3

Genes related to severe congenital neutropenia according to GeneCards:

(show all 40)

id	Symbol	Description	Score	GeneCards Section Context
1	HAX1	HCLS1 associated protein X-1	11.1	Summaries, Publications
2	CSF3R	colony stimulating factor 3 receptor (granulocyte)	11.1	Summaries, Publications
3	G6PC3	glucose 6 phosphatase, catalytic, 3	11.1	Publications, Summaries
4	GFI1	growth factor independent 1 transcription repressor	11.1	Summaries, Publications
5	ELANE	elastase, neutrophil expressed	11.1	Summaries, Publications
6	CEBPE	CCAAT/enhancer binding protein (C/EBP), epsilon	11.0	Publications
7	ARHGDIB	Rho GDP dissociation inhibitor (GDI) beta	11.0	Publications
8	NR0B2	nuclear receptor subfamily 0, group B, member 2	11.0	Publications
9	GCFC1	GC-rich sequence DNA-binding factor 1	11.0	Disorders
10	INPP5D	inositol polyphosphate-5-phosphatase, 145kDa	11.0	Publications
11	FCGR1A	Fc fragment of IgG, high affinity Ia, receptor (CD64)	11.0	Publications
12	CISH	cytokine inducible SH2-containing protein	11.0	Publications
13	CSF3	colony stimulating factor 3 (granulocyte)	11.0	Publications, Functions
14	WAS	Wiskott-Aldrich syndrome	11.0	Publications
15	LLGL2	lethal giant larvae homolog 2 (Drosophila)	11.0
16	ZC3H18	zinc finger CCCH-type containing 18	11.0	Disorders
17	N4BP2L2	NEDD4 binding protein 2-like 2	11.0
18	STAT5A	signal transducer and activator of transcription 5A	11.0	Publications
19	LEF1	lymphoid enhancer-binding factor 1	11.0	Publications
20	PTPN6	protein tyrosine phosphatase, non-receptor type 6	11.0	Functions
21	RAC2	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	11.0	Publications
22	SLPI	secretory leukocyte peptidase inhibitor	11.0	Publications
23	C5AR1	complement component 5a receptor 1	11.0	Publications
24	CAMP	cathelicidin antimicrobial peptide	11.0	Publications
25	FPR1	formyl peptide receptor 1	11.0	Publications
26	FCGR3A	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	11.0	Publications
27	RHOA	ras homolog family member A	11.0	Publications
28	PTPN3	protein tyrosine phosphatase, non-receptor type 3	11.0	Publications
29	CD14	CD14 molecule	11.0	Publications
30	PTPN11	protein tyrosine phosphatase, non-receptor type 11	11.0	Functions, Publications
31	GUSB	glucuronidase, beta	11.0	Publications
32	IL3	interleukin 3 (colony-stimulating factor, multiple)	11.0	Publications
33	CXCR4	chemokine (C-X-C motif) receptor 4	11.0	Publications
34	BIRC5	baculoviral IAP repeat containing 5	11.0	Publications
35	JAK2	Janus kinase 2	11.0	Publications
36	CSF2	colony stimulating factor 2 (granulocyte-macrophage)	11.0	Publications
37	DYT10	dystonia 10	11.0	Publications
38	IL8	interleukin 8	11.0	Publications
39	BCL2	B-cell CLL/lymphoma 2	11.0	Publications
40	TNF	tumor necrosis factor	11.0	Publications

Pathways related to severe congenital neutropenia according to GeneDecks:

(show top 50)    (show all 59)

id	Pathway	Score	Top Affiliating Genes
1	Fc epsilon RI signaling pathway20	10.0	TNF, INPP5D, RAC2
2	Jak/Stat Pathway3	10.0	CISH, JAK2, PTPN6, STAT5A
3	Fc gamma R-mediated phagocytosis20	9.9	FCGR3A, FCGR1A, INPP5D, RAC2, WAS
4	Adherens junction20	9.9	RHOA, PTPN6, LEF1, RAC2, WAS
5	RAR-Gamma-RXR-Alpha Degradation36	9.9	IL3, CSF2, CSF3
6	Staphylococcus aureus infection20	9.8	C5AR1, FCGR3A, FCGR1A, FPR1
7	Immune response_CD16 signaling in NK cells41	9.8	CSF2, PTPN6, FCGR3A, INPP5D, WAS
8	Development_Thrombopoetin signaling via JAK-STAT pathway41	9.7	STAT5A, PTPN6, PTPN11, JAK2, CISH
9	Development Thrombopoetin signaling via JAK-STAT pathway10	9.7	STAT5A, PTPN6, PTPN11, JAK2, CISH
10	Immune response_IL-2 activation and signaling pathway41	9.6	STAT5A, PTPN6, PTPN11, CISH
11	Molecular Mechanisms of Cancer36	9.5	IL3, BCL2, RAC2
12	Immune response IL-2 activation and signaling pathway10	9.4	STAT5A, PTPN6, PTPN11, CISH
13	Leishmaniasis20	9.4	PTPN6, TNF, FCGR3A, FCGR1A, JAK2
14	Chemotaxis CXCR4 signaling pathway10	9.3	CXCR4, RHOA, PTPN11, JAK2
15	Chemotaxis_CXCR4 signaling pathway41	9.3	JAK2, PTPN11, RHOA, CXCR4
16	Immune response IL-3 activation and signaling pathway10	9.3	CISH, STAT5A, JAK2, INPP5D, IL3, PTPN11
17	Immune response_IL-3 activation and signaling pathway41	9.3	STAT5A, PTPN6, PTPN11, IL3, INPP5D, JAK2
18	Akt Signaling36	9.3	CSF3R, CSF2, CXCR4, TNF
19	Epithelial Adherens Junctions36	9.2	PTPN6, PTPN11, PTPN3, IL3, LEF1, RAC2
20	IL-6 Pathway36	9.2	CSF3, CSF2, IL8, IL3
21	Colorectal cancer20	9.1	RHOA, LEF1, BCL2, BIRC5, RAC2
22	Immune response_IL-10 signaling pathway41	9.0	STAT5A, TNF, CD14, BCL2
23	Immune response IL-10 signaling pathway10	9.0	STAT5A, TNF, CD14, BCL2
24	Cytokine production by Th17 cells in CF41	9.0	CSF3, CSF2, IL8, CD14, JAK2
25	Natural killer cell mediated cytotoxicity20	9.0	CSF2, PTPN6, PTPN11, TNF, FCGR3A, RAC2
26	Cytokine production by Th17 cells in CF (Mouse model)41	9.0	CSF3, CSF2, IL8, CD14, JAK2
27	Hematopoietic cell lineage20	9.0	CSF3R, CSF3, CSF2, TNF, IL3, FCGR1A
28	Development_Prolactin receptor signaling41	8.9	STAT5A, RHOA, PTPN11, JAK2, BCL2
29	Development Prolactin receptor signaling10	8.9	STAT5A, RHOA, PTPN11, JAK2, BCL2
30	Development_EPO-induced Jak-STAT pathway41	8.9	CISH, JAK2, PTPN11, PTPN6, STAT5A, BCL2
31	Development EPO-induced Jak-STAT pathway10	8.9	STAT5A, BCL2, CISH, JAK2, PTPN11, PTPN6
32	Immune response CD16 signaling in NK cells10	8.9	CSF2, PTPN6, TNF, IL3, FCGR3A, INPP5D
33	Pathways in cancer20	8.8	CSF3R, STAT5A, RHOA, LEF1, BCL2, BIRC5
34	Chemokine signaling pathway20	8.8	CXCR4, RHOA, IL8, JAK2, RAC2, WAS
35	Apoptotic Pathways Triggered By HIV136	8.7	CXCR4, PTPN3, TNF, BCL2
36	Jak-STAT signaling pathway20	8.7	CSF3R, CSF3, CSF2, STAT5A, PTPN6, PTPN11
37	Cytokine-cytokine receptor interaction20	8.3	CSF3R, CSF3, CSF2, CXCR4, TNF, IL8
38	Pancreatic Adenocarcinoma36	8.2	IL3, JAK2, BCL2, BIRC5, RAC2, STAT5A
39	Tuberculosis20	8.1	RHOA, TNF, CAMP, FCGR3A, FCGR1A, CD14
40	all-trans-Retinoic Acid Signaling in Brain36	8.0	CSF3, CSF2, TNF, IL8, IL3, BCL2
41	PEDF Induced Signaling36	7.9	CSF3, CSF2, TNF, IL8, IL3, BCL2
42	MIF Mediated Glucocorticoid Regulation36	7.7	CSF3, CSF2, TNF, IL8, IL3, CD14
43	MIF Regulation of Innate Immune Cells36	7.7	CSF3, CSF2, TNF, IL8, IL3, CD14
44	PAK Pathway36	7.7	CSF3, CSF2, TNF, IL8, IL3, BCL2
45	Endothelin-1 Signaling Pathway36	7.6	CSF3, CSF2, TNF, IL8, IL3, BCL2
46	Rho Family GTPases36	7.5	CSF3, CSF2, TNF, IL8, IL3, ARHGDIB
47	p38 Signaling36	7.4	CSF3R, CSF3, CSF2, CXCR4, TNF, IL8
48	Tec Kinases Signaling36	7.3	CSF3R, CXCR4, STAT5A, TNF, IL8, IL3
49	STAT3 Pathway36	7.2	CSF3R, CSF3, CSF2, CXCR4, TNF, IL8
50	Antioxidant Action of Vitamin-C36	7.0	CSF3R, CSF3, CSF2, CXCR4, TNF, IL8

Compounds related to severe congenital neutropenia according to GeneDecks:

(show top 50)    (show all 180)

id	Compound	Score	Top Affiliating Genes
1	nadph32 18	11.2	RAC2, FPR1
2	pegfilgrastim32 9 9	11.6	CSF3R, IL3, ELANE, CSF2, CSF3
3	rapamycin32 42	10.5	STAT5A, WAS, JAK2
4	pge232	9.4	C5AR1, CD14, FPR1, FCGR1A, CAMP, SLPI
5	estrogen32	9.4	ELANE, CISH, FCGR1A, CAMP, PTPN3, NR0B2
6	ly29400232	9.1	INPP5D, IL8, TNF, PTPN11, STAT5A
7	ionomycin32	9.1	CSF2, FPR1, IL3, CAMP, STAT5A, WAS
8	endotoxin32	9.0	FPR1, CD14, JAK2, CAMP, ELANE, C5AR1
9	n-formylmethionyl-leucylphenylalanine32	8.7	IL3, RHOA, ELANE, CSF2, CSF3, C5AR1
10	cytochalasin b32	8.7	FPR1, GUSB, RHOA, BIRC5, C5AR1, CSF2
11	gp 13032	8.6	STAT5A, CSF3R, CISH, JAK2, IL3, PTPN3
12	anaphylatoxin32	8.5	CSF2, ELANE, IL8, IL3, CXCR4, FPR1
13	rituximab32 34 9 9	11.4	BIRC5, BCL2, CSF2, FCGR3A, FCGR1A
14	phosphotyrosine32	8.3	STAT5A, CISH, CSF3R, RHOA, PTPN6, PTPN11
15	lipoteichoic acid32	8.3	TNF, SLPI, CXCR4, CAMP, IL8, CD14
16	h2o232	8.3	FCGR1A, JAK2, FPR1, IL3, PTPN3, PTPN11
17	gm-csf32	8.3	CD14, ELANE, CSF2, STAT5A, IL3, IL8
18	heparin32 9 18 9	11.2	PTPN3, RHOA, CAMP, IL3, FPR1, ELANE
19	pentoxifylline32 9 9	10.1	TNF, CD14, ELANE, CSF2, IL8, CAMP
20	cytochalasin d32 42	9.0	DYT10, PTPN3, PTPN6, RHOA, WAS, FCGR1A
21	leukotriene b432 42 18	9.9	SLPI, TNF, CSF2, ELANE, C5AR1, IL3
22	hydrocortisone32 9 9	9.8	TNF, ELANE, STAT5A, CSF2, SLPI, IL3
23	sb 20358032 42	8.7	C5AR1, STAT5A, RHOA, CXCR4, PTPN11, FPR1
24	imatinib32 34 9 9	10.6	BCL2, STAT5A, CSF3R, CSF3, CXCR4, RHOA
25	phosphoinositide32	7.4	INPP5D, FPR1, JAK2, BIRC5, RAC2, RHOA
26	thymidine32 18	8.3	CSF3R, JAK2, INPP5D, CSF3, CSF2, STAT5A
27	rantes32	7.2	CD14, FPR1, C5AR1, SLPI, CSF3, CSF2
28	oxygen32 18	8.1	BCL2, SLPI, CSF3R, STAT5A, ELANE, PTPN11
29	alanine32	6.9	C5AR1, SLPI, BIRC5, CD14, FPR1, JAK2
30	cyclosporin a32 42	7.9	STAT5A, CXCR4, SLPI, CSF3, CSF2, ELANE
31	vegf32	6.8	CSF2, CXCR4, RHOA, DYT10, CAMP, FPR1
32	oligonucleotide32	6.7	C5AR1, SLPI, CSF3R, BCL2, STAT5A, PTPN6
33	lipid32	6.6	BIRC5, FCGR1A, RHOA, INPP5D, FPR1, CD14
34	nitric oxide32 9 18 9	9.4	PTPN11, RHOA, STAT5A, CXCR4, SLPI, PTPN3
35	histamine32 18	7.4	DYT10, TNF, CAMP, IL8, IL3, INPP5D
36	superoxide32 18	7.3	BIRC5, CD14, FPR1, GUSB, FCGR1A, IL8
37	herbimycin a32 42	6.9	PTPN11, JAK2, CD14, FCGR1A, FCGR3A, IL3
38	butyrate32	5.8	PTPN3, GUSB, CD14, JAK2, BCL2, TNF
39	fmlp32	5.7	DYT10, PTPN3, RHOA, ELANE, STAT5A, CSF2
40	actinomycin d32	5.7	CAMP, IL8, SLPI, TNF, RHOA, CXCR4
41	wortmannin32 42	6.5	WAS, BIRC5, BCL2, JAK2, C5AR1, CSF2
42	calcium32 9 18 9	8.4	DYT10, CAMP, FCGR3A, FCGR1A, INPP5D, GUSB
43	retinoic acid32 42 18	7.3	ELANE, TNF, DYT10, IL3, FPR1, PTPN6
44	pd 98,05932	5.2	C5AR1, CSF2, CXCR4, STAT5A, RHOA, PTPN3
45	phosphatidylinositol32	4.9	BIRC5, RAC2, WAS, RHOA, CSF3R, CSF2
46	tyrosine32	4.9	NR0B2, PTPN11, PTPN3, DYT10, CAMP, PTPN6
47	genistein32 9 18 9	7.9	SLPI, CSF3R, CSF2, STAT5A, RHOA, PTPN6
48	cycloheximide32	4.8	BCL2, CSF3R, SLPI, C5AR1, CSF3, CSF2
49	dexamethasone32 42 34 9 9	8.7	CSF2, CSF3, CSF3R, SLPI, CXCR4, STAT5A
50	serine32	3.8	C5AR1, SLPI, CSF3R, CXCR4, STAT5A, ELANE

Cellular components related to severe congenital neutropenia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	7.0	WAS, RHOA, PTPN6, PTPN11, CAMP, INPP5D

Biological processes related to severe congenital neutropenia according to GeneDecks:

(show all 18)

id	Name	GO ID	Score	Top Affiliating Genes
1	phagocytosis	GO:006909	10.0	CEBPE, CD14, ELANE
2	JAK-STAT cascade involved in growth hormone signaling pathway	GO:060397	9.9	STAT5A, PTPN6, JAK2, CISH
3	negative regulation of growth of symbiont in host	GO:044130	9.9	ELANE, TNF, CAMP
4	positive regulation of survival gene product expression	GO:045885	9.8	IL3, STAT5A, CSF2
5	regulation of interferon-gamma-mediated signaling pathway	GO:060334	9.8	JAK2, PTPN11, PTPN6
6	interferon-gamma-mediated signaling pathway	GO:060333	9.6	PTPN6, PTPN11, FCGR1A, JAK2
7	cellular response to lipopolysaccharide	GO:071222	9.6	GFI1, IL8, CD14, CEBPE
8	positive regulation of podosome assembly	GO:071803	9.6	TNF, CSF2
9	positive regulation of tyrosine phosphorylation of Stat5 protein	GO:042523	9.5	CSF2, IL3, JAK2
10	neutrophil chemotaxis	GO:030593	9.5	IL8, CSF3R, C5AR1
11	cytokine-mediated signaling pathway	GO:019221	9.4	CSF3, STAT5A, PTPN6, PTPN11, FCGR1A, JAK2
12	defense response to Gram-positive bacterium	GO:050830	9.2	C5AR1, TNF, CAMP
13	activation of MAPK activity	GO:000187	9.2	C5AR1, CXCR4, PTPN11, TNF, FPR1
14	cellular component movement	GO:006928	9.1	IL8, ARHGDIB, FPR1, JAK2
15	blood coagulation	GO:007596	9.1	RHOA, PTPN6, PTPN11, INPP5D, JAK2, RAC2
16	positive regulation of cell proliferation	GO:008284	8.5	CSF3, CSF2, PTPN6, IL3, JAK2, LEF1
17	immune response	GO:006955	8.4	WAS, C5AR1, CSF3, CSF2, IL8, IL3
18	apoptotic process	GO:006915	7.5	CXCR4, PTPN6, TNF, INPP5D, CD14, JAK2

Molecular functions related to severe congenital neutropenia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	4.2	WAS, PTPN6, NR0B2, RHOA, ELANE, GFI1