Neutrophilia, Hereditary (NEUTROPHILIA)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Neutrophilia, Hereditary

MalaCards integrated aliases for Neutrophilia, Hereditary:

Name: Neutrophilia, Hereditary 56 13 43 39 71
Hereditary Neutrophilia 12 58 73 29 6 15
Neutrophilia 73 71
Leukocytosis 43 71


Orphanet epidemiological data:

hereditary neutrophilia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;


autosomal dominant

most patients clinically asymptomatic
myelodysplastic syndrome developed in 1 of 12 mutation-positive patients


neutrophilia, hereditary:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare immunological diseases

External Ids:

Disease Ontology 12 DOID:0090120
OMIM 56 162830
SNOMED-CT 67 129639005
ICD10 via Orphanet 33 D72.8
UMLS via Orphanet 72 C0543669
Orphanet 58 ORPHA279943
MedGen 41 C0543669
UMLS 71 C0023518 C0543669 C3665444

Summaries for Neutrophilia, Hereditary

Disease Ontology : 12 A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.

MalaCards based summary : Neutrophilia, Hereditary, also known as hereditary neutrophilia, is related to chronic neutrophilic leukemia and atypical chronic myeloid leukemia, and has symptoms including muscle weakness and polydipsia. An important gene associated with Neutrophilia, Hereditary is CSF3R (Colony Stimulating Factor 3 Receptor), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Montelukast and Fluticasone have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, lung and myeloid, and related phenotypes are thickened calvaria and myelodysplasia

UniProtKB/Swiss-Prot : 73 Hereditary neutrophilia: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood.

More information from OMIM: 162830

Related Diseases for Neutrophilia, Hereditary

Diseases related to Neutrophilia, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 656)
# Related Disease Score Top Affiliating Genes
1 chronic neutrophilic leukemia 31.1 U2AF1 SETBP1 LUC7L2 JAK2 CSF3R CSF3
2 atypical chronic myeloid leukemia 30.6 U2AF1 SETBP1 LUC7L2 JAK2 FLT3 CSF3R
3 bronchiolitis obliterans 30.4 MPO IL6 CRP
4 paraneoplastic syndromes 30.3 PTHLH IL6 CSF3
5 hypereosinophilic syndrome 30.1 MPO JAK2 IL3 CSF2
6 myelophthisic anemia 30.1 U2AF1 JAK2
7 bronchitis 30.0 MPO IL6 CRP
8 proteasome-associated autoinflammatory syndrome 1 30.0 MPO IL6 CRP
9 bacterial pneumonia 30.0 IL6 CSF3 CRP
10 eosinophilic pneumonia 29.9 IL6 IL3 CSF2
11 vasculitis 29.9 MPO IL6 CRP
12 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 29.9 IL3 CSF3 CRP
13 chlamydia pneumonia 29.8 IL6 CRP
14 pneumocystosis 29.8 IL6 CSF3 CRP
15 pyelonephritis 29.8 IL6 CSF3 CRP
16 bone resorption disease 29.8 PTHLH IL6 CRP
17 acute monoblastic leukemia 29.8 IL6 CSF2
18 monoclonal gammopathy of uncertain significance 29.8 U2AF1 LUC7L2 IL6
19 bronchopneumonia 29.8 MPO IL6 CRP
20 brain edema 29.7 IL6 CSF3 CRP
21 idiopathic neutropenia 29.7 IL6 CSF3R
22 peritonitis 29.7 MPO IL6 CSF3 CRP
23 relapsing polychondritis 29.6 IL6 CSF3 CRP
24 adult respiratory distress syndrome 29.6 MPO IL6 CSF3
25 aspergillosis 29.5 IL6 CSF3 CSF2
26 chorioamnionitis 29.5 IL6 CSF2 CRP
27 vascular disease 29.5 MPO IL6 CSF3 CRP
28 chlamydia 29.5 IL6 CSF2 CRP
29 periodontitis 29.5 MPO IL6 CRP
30 leukemia 29.4 U2AF1 JAK2 FLT3 CSF3R CSF2
31 mastocytosis 29.4 JAK2 IL6 IL3 FLT3
32 diarrhea 29.4 MPO IL6 IL3 CSF3
33 deficiency anemia 29.4 U2AF1 JAK2 IL6 CRP
34 meningitis 29.4 IL6 CSF3 CSF2 CRP
35 otitis media 29.4 MPO IL6 CSF3 CRP
36 pneumonia 29.4 MPO IL6 CSF3 CSF2 CRP
37 juvenile arthritis 29.4 IL6 CSF2 CRP
38 pharyngitis 29.3 IL6 CSF2 CRP
39 polyarteritis nodosa 29.3 MPO IL6 CRP
40 bacterial meningitis 29.3 IL6 CSF2 CRP
41 relapsing-remitting multiple sclerosis 29.3 U2AF1 IL6 CSF2
42 reactive arthritis 29.3 MPO IL6 CRP
43 leukemia, acute monocytic 29.3 U2AF1 MPO IL6 FLT3
44 nervous system disease 29.3 U2AF1 MIR223 IL6 CSF2
45 pulmonary disease, chronic obstructive 29.3 MPO MIR223 IL6 CSF2 CRP
46 appendicitis 29.3 MPO IL6 CSF3 CRP
47 cholangitis 29.2 MPO IL6 CRP
48 acquired immunodeficiency syndrome 29.2 IL6 CSF2 CRP
49 severe combined immunodeficiency 29.2 IL6 IL3 FLT3 CSF3 CSF2
50 ileitis 29.1 MPO IL6 CSF2

Graphical network of the top 20 diseases related to Neutrophilia, Hereditary:

Diseases related to Neutrophilia, Hereditary

Symptoms & Phenotypes for Neutrophilia, Hereditary

Human phenotypes related to Neutrophilia, Hereditary:

# Description HPO Frequency HPO Source Accession
1 thickened calvaria 31 HP:0002684
2 myelodysplasia 31 HP:0002863
3 hepatosplenomegaly 31 HP:0001433
4 neutrophilia 31 HP:0011897
5 elevated leukocyte alkaline phosphatase 31 HP:0008318

Symptoms via clinical synopsis from OMIM:

segmented neutrophils or band cells greater than 70%

Clinical features from OMIM:


UMLS symptoms related to Neutrophilia, Hereditary:

muscle weakness, polydipsia

MGI Mouse Phenotypes related to Neutrophilia, Hereditary:

# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.28 CRP CSF2 CSF3 CSF3R FLT3 IL6

Drugs & Therapeutics for Neutrophilia, Hereditary

Drugs for Neutrophilia, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 239)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Montelukast Approved Phase 4 158966-92-8 5281040
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
Thrombin Approved, Investigational Phase 4
Azithromycin Approved Phase 4 83905-01-5 447043 55185
Omalizumab Approved, Investigational Phase 4 242138-07-4
Metronidazole Approved Phase 4 443-48-1 4173
Ceftriaxone Approved Phase 4 73384-59-5 5361919 5479530
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
Vancomycin Approved Phase 4 1404-90-6 14969 441141
Histamine Approved, Investigational Phase 4 51-45-6 774
Sodium citrate Approved, Investigational Phase 4 68-04-2
Sucralfate Approved Phase 4 54182-58-0
Glycolic acid Approved, Investigational Phase 4 79-14-1 757
Daunorubicin Approved Phase 4 20830-81-3 30323
Cytarabine Approved, Experimental, Investigational Phase 4 147-94-4, 65-46-3 6253
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
17 Hormone Antagonists Phase 4
18 Hemostatics Phase 4
19 Adrenergic beta-Agonists Phase 4
20 Respiratory System Agents Phase 4
21 Neurotransmitter Agents Phase 4
22 Anti-Asthmatic Agents Phase 4
Salmeterol xinafoate Phase 4 94749-08-3 56801
24 Adrenergic Agents Phase 4
25 Anti-Allergic Agents Phase 4
26 Leukotriene Antagonists Phase 4
27 Adrenergic Agonists Phase 4
28 Bronchodilator Agents Phase 4
29 Gastrointestinal Agents Phase 4
30 Amdinocillin Pivoxil Phase 4
31 Antiprotozoal Agents Phase 4
32 Antiparasitic Agents Phase 4
33 Antacids Phase 4
34 Anti-Ulcer Agents Phase 4
35 Ranitidine bismuth citrate Phase 4
36 Histamine Antagonists Phase 4
37 Citrate Phase 4
Histamine Phosphate Phase 4 51-74-1 65513
39 Histamine H2 Antagonists Phase 4
40 Bismuth tripotassium dicitrate Phase 4
Bismuth Phase 4 7440-69-9 16682734 105143
42 penicillins Phase 4
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
47 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
Clavulanate Approved, Vet_approved Phase 3 58001-44-8 5280980
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865

Interventional clinical trials:

(show top 50) (show all 139)
# Name Status NCT ID Phase Drugs
1 A Randomized Clinical Trial Between Clindamycin Once and Thrice a Day in Septic Abortion. Unknown status NCT02309346 Phase 4 Clindamycin
2 The Effects of Montelukast on Sputum Cells and Inflammatory Markers in Smokers With Asthma Completed NCT00712335 Phase 4 Fluticasone Propionate;Montelukast;Salmeterol
3 A Prospective, Open-label Study of Azithromycin for Lymphocytic Bronchiolitis/Bronchitis After Lung Transplantation Completed NCT01109160 Phase 4 Azithromycin Dihydrate
4 A Description of Inflammatory Cell Types in Moderate to Severe Pediatric Asthma: Eosinophilic and Non Eosinophilic Sputum Markers While on Anti-IgE Therapy (Xolair) Completed NCT00283504 Phase 4 ANTI-IGE THERAPY (XOLAIR)
5 The Efficacy and Safety of Pivmecillinam in Treating Bacteriemic Urosepsis Caused by E.Coli Completed NCT03282006 Phase 4 pivmecillinam
6 Leukocyte Depletion of Autologous Whole Blood: Impact on Perioperative Infection Rate and Length of Hospital Stay for Hip Arthroplasty Patients Completed NCT00176124 Phase 4
7 A Clinico-Bacteriological Study and Effect of Stress Ulcer Prophylaxis on Occurrence of Ventilator Associated Pneumonia: a Randomized Prospective Study Completed NCT00702871 Phase 4 Ranitidine;Sucralfate
8 Use of Polyethylene Glycolic Acid or Tachocomb to Prevent Pancreatic Fistula Following Distal Pancreatectomy: Prospective Multicenter Randomized Study Completed NCT01550406 Phase 4
9 Safety and Efficacy of Single Daily Dose of Ceftriaxone and Metronidazole for Treatment of Complicated Appendicitis in Children Completed NCT01678365 Phase 4 ceftriaxone, metronidazole/ampicillin, gentamicin, and metronidazole
10 The EDGE Consortium: A Randomized Trial of Preoperative Prophylactic Antibiotics Prior to Percutaneous Nephrolithotomy: Part 1 Completed NCT02384200 Phase 4 nitrofurantoin monohydrate/macrocrystalline capsules;ampicillin;gentamicin;vancomycin;ceftriaxone
11 Ertapenem Pharmacokinetics in Patients in Continuous Ambulatory Peritoneal Dialysis Completed NCT00939952 Phase 4 ertapenem
12 Combined Retinoic Acid,Arsenic Trioxide and Chemotherapy for Newly-diagnosed Acute Promyelocytic Leukemia: Chinese National Multi-center Randomized Study Active, not recruiting NCT01987297 Phase 4 ATRA+Arsenic;ATRA+Chemo
13 A Randomized Trial in Intrapartum Fever Of No Antibiotics for Low-risk Women (RATIONAL) Withdrawn NCT03168178 Phase 4 Standard Antibiotic Treatment
14 Preoperative Glucocorticoid Use in Major Hepatectomy - A Randomized Controlled Trial Unknown status NCT01997658 Phase 2, Phase 3 Methylprednisolone;Placebo
15 Evaluation of Efficacy of Mesalamine in the Long-term Prevention of Diverticulitis Flares Completed NCT01120340 Phase 3 mesalamine
16 A Pilot Study to Evaluate a Procalcitonin-Based Algorithm for Duration of Antibiotic Therapy in Critically Ill Patients Completed NCT01572831 Phase 3
17 Antibiotic Treatment Versus no Antibiotics in the Postoperative Acute Cholecystitis Low and Moderately Severe Completed NCT01015417 Phase 3 Amoxicillin clavulanic acid
18 The Effect of Cholecalciferol Supplementation on Vitamin D Status in Sepsis Completed NCT01896544 Phase 3
19 Effects of Non-Surgical Periodontal Therapy on Endothelial Function A Randomized Controlled Clinical Trial Completed NCT00327561 Phase 3
20 Randomized Trial of High-dose Intravenous Methylprednisolone and Steroid Taper for Vaso-occlusive Crises in Sickle Cell Disease Completed NCT00263562 Phase 3 Methylprednisolone plus prednisone taper
21 Diagnosis of Ventilator- Associated Pneumonia in Children: A Comparative Study of Bronchoscopic and Non-Bronchoscopic Methods Completed NCT00495963 Phase 3
22 Inhaled Dornase Alfa for Treatment of ARDS in Patients With SARS-CoV-2 Recruiting NCT04402970 Phase 3 Dornase Alfa Inhalation Solution
23 Non Operative Treatment With Antibiotics Vs Surgery for Acute Non Perforated Appendicitis in Children: A Randomized Controlled Trial. Recruiting NCT04030741 Phase 2, Phase 3 Meronem and flagyl
24 Randomized Noninferiority Study of an Antibacterial Envelope Alone Versus Envelope Plus Intraoperative Antibacterial Irrigant and Postoperative Antibiotics to Prevent Cardiac Implantable Electronic Device Infections in High-Risk Patients Recruiting NCT02809131 Phase 3 polymixin/bacitracin;cephalexin, or levofloxacin, or clindamycin;Saline
25 A Phase 3, Multicenter, Open-label, Randomized Study Comparing the Efficacy and Safety of AG-221 (CC-90007) Versus Conventional Care Regimens in Older Subjects With Late Stage Acute Myeloid Leukemia Harboring an Isocitrate Dehydrogenase 2 Mutation Active, not recruiting NCT02577406 Phase 3 AG-221;Azacitidine;Low-dose cytarabine (LDAC);Intermediate-dose cytarabine (IDAC)
26 An Open Randomized Therapeutic Trial Using ANAKINRA, TOCILIZUMAB Alone or in Association With RUXOLITINIB in Severe Stage 2b and 3 of COVID19-associated Disease Not yet recruiting NCT04424056 Phase 3 Anakinra +/- Ruxolitinib (stages 2b/3);Anakinra and Ruxolitinib (Advanced stage 3);Tocilizumab +/- ruxolitinib (stages 2b/3);Tocilizumab and Ruxolitinib (Advanced stage 3)
27 Povidone-iodine vs. Chlorhexidine Gluconate - A Comparison of Surgical Preparations and Wound Infection Rates for Elective Cesarean Sections Terminated NCT00528008 Phase 3
28 Safety and Efficacy of Inhaled Alpha-1 Antitrypsin in Preventing Bronchiolitis Obliterable Syndrome in Lung Transplant Recipients Unknown status NCT01394835 Phase 2 Alpha -1 Antitrypsin;Alpha-1 Antitrypsin;AAT
29 The Optimal Time for Intravenous Antibiotic Prophylaxis in Elective Cesarean Section: Randomized Comparative Study Unknown status NCT02742948 Phase 2 ceftriaxone
30 Multicenter Prospective Randomized Clinical Trial Comparing Endoscopic Retrograde Appendicitis Therapy (ERAT) vs Antibiotic Therapy vs Appendectomy for Treatment of Uncomplicated Acute Appendicitis Unknown status NCT02789865 Phase 2 Ertapenem, Levofloxacin and Metronidazole
31 Misoprostol Versus Effox (Individually or in Combination) as Cervical Ripening Agent Prior to 1st Trimesteric Surgical Evacuation Unknown status NCT02738177 Phase 2 Misoprostol;Isosorbide-5-mononitrate;misoprostol and Isosorbide-5-mononitrate
32 A Double-blind, Placebo Controlled, Randomized, Cross-over, Phase IIa Study to Evaluate the Effect of Bimosiamose on Ozone Induced Sputum Neutrophilia in Healthy Subjects Completed NCT00962481 Phase 2 Bimosiamose;Placebo
33 Double Blind, Placebo Controlled, Parallel Group Study With an Open Label Reference Arm to Assess the Effects of Intravenously Administered AIN457 on Ozone Induced Neutrophilia Compared to Placebo & Oral Corticosteroid in Healthy Volunteers Completed NCT00920933 Phase 1, Phase 2 prednisolone
34 Direct Thrombin Inhibitors Versus LMWH in Staphylococcus Aureus Bacteraemia. A Prospective Randomized Controlled Academic Single-centre Feasibility Study. Completed NCT01911624 Phase 2 direct thrombin inhibition;enoxaparin
35 A Randomised, Double-blind, Placebo-controlled, Cross-over Study to Evaluate the Effect of Treatment With Repeat Dose GSK2190915 as an add-on to Current Therapy on the Percentage of Neutrophils in Induced Sputum in Asthmatic Patients With Elevated Sputum Neutrophils Completed NCT01471665 Phase 2 GSK2190915 100mg;Placebo
36 Multi-Center Phase II Study With Pomalidomide in Patients With Myeloproliferative Neoplasms in Fibrotic Stage Completed NCT00949364 Phase 2 Pomalidomide
37 Open-label, Multicenter, Dose-escalating Phase II Study to Investigate the Safety, Tolerability, and Early Signs of Efficacy of Subcutaneous Administrations of Tadekinig Alfa (IL-18BP) in Patients With Adult -Onset Still's Disease (AoSD) During 12 Weeks Completed NCT02398435 Phase 2
38 Pilot Phase 2 Trial of the Safety & Efficacy of Granulocyte-Macrophage Colony-Stimulating Factor (Leukine®) in the Treatment of Alzheimer's Disease Completed NCT01409915 Phase 2 Sagramostim;Saline -- placebo comparator
39 Appropriate Antimicrobial Therapy in Critical Care: A Pilot Randomized Controlled Trial Completed NCT00438269 Phase 2 Site-specific empiric regimens included: Meropenem;Piperacillin/tazobactam;Ciprofloxacin and cefazolin +/- metronidazole
40 A Pilot Open-Label Study of the Efficacy and Safety of Imetelstat (GRN163L) in Myelofibrosis and Other Myeloid Malignancies Completed NCT01731951 Phase 2 Imetelstat
41 A 4-week Single-arm Study of Roflumilast in Stable-state Non-cystic Fibrosis Bronchiectasis Completed NCT03428334 Phase 2 Oral roflumilast
42 An Open-Label, Cohort Dose Escalation Study to Assess the Safety and Efficacy of F-652 in Patients With Alcoholic Hepatitis Completed NCT02655510 Phase 1, Phase 2 F-652
43 Interferon Gamma Administration in Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2 Interferon gamma
44 The Effect of Jobelyn ( Extract of Sorghum Bicolor) on the Haematological Parameters of Patients With Sickle Cell Anaemia Disease. Completed NCT01703104 Phase 1, Phase 2 Paludrine + Folic Acid
45 Effects of Sympathicomimetic Agonists on the Disease Course and Mutant Allele Burden in Patients With JAK2-mutated Myeloproliferative Neoplasms. A Multicenter Phase II Trial. Completed NCT02311569 Phase 2 Mirabegron
46 Randomized Clinical Trial: Single Versus Multiple-infusion Fecal Microbiota Transplantation for Severe Clostridium Difficile Infection Completed NCT03427229 Phase 2 Vancomycin (before randomization)
47 A Pilot Study of the Safety and Efficacy of Imatinib in Reducing Monocytosis or Leukocytosis in Patients With Chronic Myelomonocytic Leukemia and Atypical Chronic Myelogenous Leukemia, Respectively Completed NCT00079313 Phase 2 Imatinib
48 A Phase 2 Study of Anakinra in Inflammatory Pustular Dermatoses: Evaluation of Therapeutic Efficacy and Validation of Pathogenic Mechanisms Completed NCT01794117 Phase 2 Anakinra
49 Prospective, Phase II Randomized Study to Compare Busulfan-fludarabine Reduced-intensity Conditioning (RIC) With Thiotepa-fludarabine RIC Regimen Prior to Allogeneic Transplantation of Hematopoietic Cells for the Treatment of Myelofibrosis Completed NCT01814475 Phase 2 A: Fludarabine + Busulphan;B: Fludarabine + Thiotepa
50 Small Volume Plasma Exchange (SVPE) for Guillain-Barré Syndrome Patients in Bangladesh: A Safety and Feasibility Study Completed NCT02780570 Phase 2

Search NIH Clinical Center for Neutrophilia, Hereditary

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cochrane evidence based reviews: leukocytosis

Genetic Tests for Neutrophilia, Hereditary

Genetic tests related to Neutrophilia, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Neutrophilia 29

Anatomical Context for Neutrophilia, Hereditary

MalaCards organs/tissues related to Neutrophilia, Hereditary:

Neutrophil, Lung, Myeloid, Testes, Liver, Endothelial, Bone

Publications for Neutrophilia, Hereditary

Articles related to Neutrophilia, Hereditary:

(show top 50) (show all 281)
# Title Authors PMID Year
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. 61 56 6
19620628 2009
Hereditary neutrophilia. 56 61
4825608 1974
An activating mutation in the transmembrane domain of the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia. 6
12203110 2002
Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. 46
18278031 2008
Hereditary erythrocytosis, thrombocytosis and neutrophilia. 61
25189721 2014
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. 61
23604229 2013
Time course of changes in performance and inflammatory responses after acute plyometric exercise. 54
20386477 2010
A case of granulocyte-colony stimulating factor-producing hepatocellular carcinoma confirmed by immunohistochemistry. 54
20191051 2010
Clinical characteristics of post-neurosurgical Klebsiella pneumoniae meningitis in adults and a clinical comparison to the spontaneous form in a Taiwanese population. 54
20093030 2010
Urinary macrophage migration inhibitory factor in children with urinary tract infection. 54
19841948 2010
[A case of severe leptospirosis infection (Weil's disease) in Tokyo]. 54
20170016 2010
Selective mobilization of cytotoxic leukocytes by epinephrine. 54
19949113 2010
Fecal calprotectin correlates more closely with the Simple Endoscopic Score for Crohn's disease (SES-CD) than CRP, blood leukocytes, and the CDAI. 54
19755969 2010
Thymic squamous cell carcinoma producing granulocyte colony-stimulating factor associated with a high serum level of interleukin 6. 54
19967491 2009
C-reactive protein in bronchoalveolar lavage fluid is associated with markers of airway inflammation after lung transplantation. 54
19857759 2009
Etiology and outcome of extreme leukocytosis in 758 nonhematologic cancer patients: a retrospective, single-institution study. 54
19551882 2009
[Two cases of pleomorphic carcinoma with severe systemic inflammation]. 54
19764522 2009
[Complication after subacute cervical lymphadenitis]. 54
19618128 2009
A relapse of systemic type juvenile idiopathic arthritis after a rubella vaccination in a patient during a long-term remission period. 54
19576941 2009
Increased preoperative white blood cell count predicts postoperative atrial fibrillation after coronary artery bypass surgery. 54
19362015 2009
[Calcyphylaxis in a patient with end-stage renal disease in the course of systemic lupus erythematosus, diagnostic problems--case report]. 54
19856878 2009
Adult onset Stills disease in a tertiary care hospital of Pakistan. 54
19579736 2009
The difference in clinical characteristics between acute Q fever and scrub typhus in southern Taiwan. 54
18977677 2009
Proinflammatory cytokines in response to insulin-induced hypoglycemic stress in healthy subjects. 54
19303962 2009
[Two cases of granulocyte-colony stimulating factor-producing infiltrating urothelial carcinoma of the kidney]. 54
19462829 2009
[A case of lung cancer producing granulocyte colony-stimulating factor with a significantly high uptake in the bones observed by a FDG-PET scan]. 54
19348277 2009
[Case of phlegmonous esophagogastritis associated with hypopharyngeal abscess]. 54
19262050 2009
Aneurysms of the renal arteries associated with segmental arterial mediolysis in a case of polyarteritis nodosa. 54
19261100 2009
Neutrophil function and cytokine-specific signaling in chronic neutrophilic leukemia. 54
18241214 2009
High procalcitonin in a patient with drug hypersensitivity syndrome. 54
19687601 2009
CXCR4 antagonists: targeting the microenvironment in leukemia and other cancers. 54
18987663 2009
Granulocyte-colony stimulating factor-producing pancreatic adenosquamous carcinoma showing aggressive clinical course. 54
19420814 2009
Elevated granulocyte colony-stimulating factor, non-infectious leukocytosis and fevers in a patient with multiple myeloma. 54
18810556 2008
[Urinary bladder cancer producing granulocyte-colony stimulating factor: a case report and review of the literature]. 54
19175000 2008
[Therapy of acute promyelocytic leukemia in Czechia: results and analysis of prognostic factors]. 54
18780575 2008
Alterations of peripheral leukocyte count, erythrocyte sedimentation rate, and C-reactive protein in febrile urinary tract infection. 54
19377227 2008
Abdominal compartment syndrome: a situation thet needs to be better known. 54
18709776 2008
[Frequency and epidemiology of primary epiploic appendagitis on CT in adults with abdominal pain]. 54
18354354 2008
Primary pulmonary squamous cell carcinoma associated with elevated IL-6, leukocytosis, hypercalcemia, phagocytosis, reactive lymphadenopathy and glomerular mesangial cell proliferation via the production of PTH-rP and G-CSF. 54
18277029 2008
Clinical usefulness of serum C-reactive protein in living donor liver transplantation. 54
18507099 2008
C-reactive protein levels in patients with chronic obstructive pulmonary disease: role of infection. 54
18408388 2008
[T lymphocyte immunophenotype as a diagnostic marker of late-onset neonatal sepsis]. 54
18053517 2007
Mushroom poisoning. 54
18217466 2007
Dedifferentiated liposarcoma with leukocytosis. A case report of G-CSF-producing soft-tissue tumors, possible association with undifferentiated liposarcoma lineage. 54
18021394 2007
Exercise-induced alterations in pro-inflammatory cytokines and prostaglandin F2alpha in horses. 54
17617470 2007
Multiple-dose escalation study of the safety, pharmacokinetics, and biologic activity of oral AMD070, a selective CXCR4 receptor inhibitor, in human subjects. 54
17452489 2007
Erythema nodosum: an evaluation of 100 cases. 54
17888212 2007
Predictive value of clinical and laboratory variables for vesicoureteral reflux in children. 54
17273861 2007
A case of squamous cell carcinoma of the head and neck producing granulocyte-colony stimulating factor with marked leukocytosis. 54
17097253 2007
Evaluation of diagnostic findings and scoring systems in outcome prediction in acute pancreatitis. 54
17589925 2007

Variations for Neutrophilia, Hereditary

ClinVar genetic disease variations for Neutrophilia, Hereditary:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSF3R NM_000760.4(CSF3R):c.1919C>A (p.Thr640Asn)SNV Pathogenic 16005 rs121918426 1:36933198-36933198 1:36467597-36467597

UniProtKB/Swiss-Prot genetic disease variations for Neutrophilia, Hereditary:

# Symbol AA change Variation ID SNP ID
1 CSF3R p.Thr640Asn VAR_063065 rs121918426

Expression for Neutrophilia, Hereditary

Search GEO for disease gene expression data for Neutrophilia, Hereditary.

Pathways for Neutrophilia, Hereditary

Pathways related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
13.48 JAK2 IL6 IL3 FLT3 CSF3R CSF3
Show member pathways
13.19 JAK2 IL6 IL3 FLT3 CSF3R CSF3
Show member pathways
13.12 JAK2 IL6 IL3 CSF3R CSF3 CSF2
Show member pathways
13.11 JAK2 IL6 IL3 FLT3 CSF3R CSF3
Show member pathways
12.75 JAK2 IL6 IL3 FLT3 CSF3R CSF3
7 12.66 JAK2 IL6 IL3 FLT3 CSF3R
Show member pathways
Show member pathways
12.15 JAK2 IL6 CSF3 CSF2
10 12.05 MPO IL6 IL3 FLT3 CSF2
Show member pathways
11.68 JAK2 IL6 CRP
Show member pathways
11.67 JAK2 IL6 CSF3 CSF2
13 11.6 IL6 FLT3 CSF2
14 11.5 IL6 CSF3 CSF2
15 11.43 IL6 IL3 FLT3 CSF3R CSF3 CSF2
16 11.34 IL6 CSF3 CSF2
17 11.24 IL6 IL3 CSF3 CSF2
18 11.23 MPO IL6 IL3 FLT3 CSF3R CSF3
19 10.92 IL6 IL3 CSF3 CSF2
20 10.87 IL6 CRP
21 10.85 IL6 IL3 FLT3 CSF3 CSF2

GO Terms for Neutrophilia, Hereditary

Cellular components related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 PTHLH MPO IL6 IL3 CSF3R CSF3
2 extracellular space GO:0005615 9.23 PTHLH MPO MIR223 IL6 IL3 CSF3

Biological processes related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.7 PTHLH JAK2 IL6 IL3 FLT3 CSF3
2 positive regulation of DNA-binding transcription factor activity GO:0051091 9.65 JAK2 IL6 CSF3
3 MAPK cascade GO:0000165 9.62 JAK2 IL3 FLT3 CSF2
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 JAK2 FLT3 CSF3
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.56 JAK2 IL6 IL3 CSF3
6 interleukin-6-mediated signaling pathway GO:0070102 9.49 JAK2 IL6
7 dendritic cell differentiation GO:0097028 9.46 FLT3 CSF2
8 regulation of myeloid cell differentiation GO:0045637 9.43 CSF3R CSF2
9 negative regulation of lipid storage GO:0010888 9.37 IL6 CRP
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.35 JAK2 IL6 IL3 FLT3 CSF2
11 cytokine-mediated signaling pathway GO:0019221 9.17 JAK2 IL6 IL3 FLT3 CSF3R CSF3

Molecular functions related to Neutrophilia, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 IL6 IL3 CSF3 CSF2
2 peptide hormone receptor binding GO:0051428 9.16 PTHLH JAK2
3 growth factor activity GO:0008083 8.92 IL6 IL3 CSF3 CSF2

Sources for Neutrophilia, Hereditary

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