Autosomal Recessive 4 Severe Congenital Neutropenia

aka SCN4

Also Known As:

Neutropenia, Severe Congenital, Autosomal Recessive 4; Dursun Syndrome; Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect; Scn4

Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Cytopenia: 2582
    - Leukopenia: 5826
      - Agranulocytosis: 4051
        Neutropenia: 16591
        Autosomal Recessive 4 Severe Congenital Neutropenia: 11
  - Leukocyte Disorders: 8
    - Leukopenia: 5826
      - Agranulocytosis: 4051
        Neutropenia: 16591
        Autosomal Recessive 4 Severe Congenital Neutropenia: 11

Related Diseases

1.	Autosomal Recessive 3 Severe Congenital Neutropenia
2.	Neutropenia
3.	Infections
4.	Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
5.	Urogenital Abnormalities

Experts

1.	Chang, Doudou: 1 article (01/2022)
2.	Huang, Minghui: 1 article (01/2022)
3.	Jiang, Dan: 1 article (01/2022)
4.	Jiang, Ye: 1 article (01/2022)
5.	Li, Chunjie: 1 article (01/2022)
6.	Qin, Ruifeng: 1 article (01/2022)
7.	Tian, Zhongyan: 1 article (01/2022)
8.	Wang, Congli: 1 article (01/2022)
9.	Chai, Xing-Yun: 1 article (06/2021)
10.	Chen, Pan-Long: 1 article (06/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive 4 Severe Congenital Neutropenia:

1.	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/01/2021 - "Severe congenital neutropenia (SCN4) caused by mutations in glucose-6- phosphatase catalytic subunit 3 (G6PC3) is characterized by recurrent infections due to severe neutropenia, may be accompanied by other extra-hematopoietic manifestations; including structural heart defects, urogenital abnormalities, prominent superficial venous markings, growth retention, and inflammatory bowel diseases with rare incidence. " 08/18/2023 - "Neutropenia and neutrophil dysfunction in glycogen storage disease type 1b (GSD1b) and severe congenital neutropenia type 4 (SCN4), associated with deficiencies of the glucose-6-phosphate transporter (G6PT/SLC37A4) and the phosphatase G6PC3, respectively, are the result of the accumulation of 1,5-anhydroglucitol-6-phosphate in neutrophils. "
2.	Glucose-6-Phosphatase (Glucose 6 Phosphatase)IBA 11/21/2012 - "Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). " 05/01/2015 - "Disorders of the glucose-6-phosphatase (G6Pase)/glucose-6-phosphate transporter (G6PT) complexes consist of three subtypes: glycogen storage disease type Ia (GSD-Ia), deficient in the liver/kidney/intestine-restricted G6Pase-α (or G6PC); GSD-Ib, deficient in a ubiquitously expressed G6PT (or SLC37A4); and G6Pase-β deficiency or severe congenital neutropenia syndrome type 4 (SCN4), deficient in the ubiquitously expressed G6Pase-β (or G6PC3). "
3.	Glucose-6-PhosphateIBA 05/01/2015 - "Disorders of the glucose-6-phosphatase (G6Pase)/glucose-6-phosphate transporter (G6PT) complexes consist of three subtypes: glycogen storage disease type Ia (GSD-Ia), deficient in the liver/kidney/intestine-restricted G6Pase-α (or G6PC); GSD-Ib, deficient in a ubiquitously expressed G6PT (or SLC37A4); and G6Pase-β deficiency or severe congenital neutropenia syndrome type 4 (SCN4), deficient in the ubiquitously expressed G6Pase-β (or G6PC3). "
4.	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/01/2021 - "Where possible, regular G-CSF treatment, long-term prevention of infection, are the optimal methods for cure of SCN4 patients. " 01/01/2021 - "G-CSF treatment is insufficient for patients with SCN4 patients, who remain at risk of infection. "
5.	Sodium Channels (Sodium Channel)IBA 01/01/2021 - "It is caused by mutations of the SCN4 gene which encodes the sodium channel in skeletal muscles. "
6.	ThionesIBA 02/21/2004 - "Reactions of [NBu4][AuX4](X = Cl, Br) with diphenylthiocarbazone (dithizone) result in reduction of the metal and the formation of gold(I) complexes of the composition [AuX(SCN4-3,4-Ph2)] where SCN4-3,4-Ph2 is 3,4-diphenyltetrazole thione which is formed from cyclisation of dithizone."
7.	Plant Growth Regulators (Plant Hormones)IBA 01/01/2022 - "More DEGs associated with stress response elements, plant-hormone signaling transduction pathway, and plant-pathogen interaction pathway with more upregulation were found in the incompatible reaction with SCN4 infection, and more DEGs with more upregulation involved in cell wall modification and carbohydrate bioprocess were detected in the compatible reaction with SCN5 infection when compared with each other. "
8.	NucleotidesIBA 01/01/2022 - "In combination with euclidean distance (ED) and Δsingle-nucleotide polymorphism (SNP)-index analyses, we identified a genomic region on Gm11 (designated as rhg1-paralog) associated with SCN4 resistance. "
9.	MetalsIBA 02/21/2004 - "Reactions of [NBu4][AuX4](X = Cl, Br) with diphenylthiocarbazone (dithizone) result in reduction of the metal and the formation of gold(I) complexes of the composition [AuX(SCN4-3,4-Ph2)] where SCN4-3,4-Ph2 is 3,4-diphenyltetrazole thione which is formed from cyclisation of dithizone."
10.	GoldIBA 02/21/2004 - "Reactions of [NBu4][AuX4](X = Cl, Br) with diphenylthiocarbazone (dithizone) result in reduction of the metal and the formation of gold(I) complexes of the composition [AuX(SCN4-3,4-Ph2)] where SCN4-3,4-Ph2 is 3,4-diphenyltetrazole thione which is formed from cyclisation of dithizone."

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 01/01/2021 - "Once leukemia occurs in SCN4 patients, hematopoietic stem cell transplantation is the most important choice of treatment."