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Autosomal Recessive 3 Severe Congenital Neutropenia

Hematopoiesis disorders characterized by a maturation arrest of PROMYELOCYTES during granulopoiesis; peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe BACTERIAL INFECTIONS. Dominant mutations in the ELANE gene that result in a form of severe congenital neutropenia (SCN1) have been identified in about 60% of patients of European or Middle Eastern descent. OMIM: 202700. Autosomal recessive mutations have been identified in the HAX1 gene in SCN3/ Kostmann Disease (OMIM: 610738)
Also Known As:
Neutropenia, Severe Congenital, Autosomal Recessive 3; Agranulocytosis, Infantile; Agranulocytosis, infantile genetic; Autosomal dominant or sporadic congenital neutropenia; Congenital Agranulocytosis; Congenital Neutropenia; Infantile genetic agranulocytosis; Kostmann disease; Kostmann syndrome; Kostmann's Agranulocytosis; Kostmann's Syndrome; Severe Infantile Genetic Neutropenia; Severe congenital neutropenia
Networked: 442 relevant articles (15 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. severe chronic Neutropenia
2. Cyclic neutropenia
3. Neutropenia
4. Acquired Immunodeficiency Syndrome (AIDS)
5. Agranulocytosis (Granulocytopenia)

Experts

1. Welte, Karl: 31 articles (01/2021 - 02/2003)
2. Zeidler, Cornelia: 23 articles (01/2020 - 02/2003)
3. Skokowa, Julia: 20 articles (01/2021 - 04/2005)
4. Dale, David C: 18 articles (01/2022 - 12/2002)
5. Klein, Christoph: 16 articles (04/2022 - 12/2007)
6. Donadieu, Jean: 13 articles (01/2022 - 06/2004)
7. Germeshausen, Manuela: 13 articles (01/2015 - 07/2006)
8. Link, Daniel C: 12 articles (01/2022 - 11/2002)
9. Carlsson, Göran: 11 articles (01/2021 - 10/2002)
10. Welte, K: 11 articles (04/2005 - 02/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive 3 Severe Congenital Neutropenia:
1. Granulocyte Colony-Stimulating Factor (G-CSF)IBA
2. pegfilgrastim (Neulasta)FDA Link
3. Colony-Stimulating Factors (Colony Stimulating Factor)IBA
4. sargramostim (Leukine)FDA Link
5. LenograstimIBA
6. Filgrastim (Neupogen)FDA Link
7. Anti-Bacterial Agents (Antibiotics)IBA
07/01/2001 - "In the pre-antibiotic era, Kostmann's syndrome was inevitably fatal during the first year of life. "
05/01/2013 - "Exclusion criteria included patients in known remission, those with prior antibiotic therapy at another facility, congenital neutropenia, or parental concern or objection to treatment. "
05/01/2007 - "There are variable degrees of consensus regarding the background systemic disorder, as in the case of Chediak-Higiashi syndrome, where antibiotic treatment proves ineffective; in severe congenital neutropenia or infantile genetic agranulocytosis, where antibiotic prophylaxis is suggested; and in Papillon-Lefévre syndrome, where an established treatment protocol is available."
01/01/2002 - "Patients with Kostmann Syndrome who are successfully treated for agranulocytosis with serum colony stimulating factor remain deficient in cathelin-LL-37, a peptide antibiotic, which is normally present in neutrophils and saliva. "
03/01/1995 - "In three forms of SCN, i.e., congenital neutropenia (Kostmann's syndrome and related syndromes), idiopathic neutropenia (both childhood and adult), and cyclic neutropenia, it is now established that long-term treatment with the hematopoietic growth factor, recombinant human granulocyte colony stimulating factor (rHuG-CSF or Filgrastim), can elevate blood neutrophil counts to the normal range in most patients, with a concomitant reduction in infection-related events including fever, oral ulcerations, antibiotic use and symptoms of inflammation. "
8. Interleukin-1 Receptors (Interleukin 1 Receptor)IBA
9. Zidovudine (Retrovir)FDA LinkGeneric
10. Leukocyte Elastase (Neutrophil Elastase)IBA

Therapies and Procedures

1. Therapeutics
2. Hematopoietic Stem Cell Transplantation
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Transplantation
5. Drug Therapy (Chemotherapy)
01/01/2022 - "The clinical application of HSCs is bone marrow transplant in patients with aplastic anemia, congenital neutropenia, sickle cell anemia, thalassemia, or replacement of damaged bone marrow in case of chemotherapy. "
05/13/2002 - "Granulocyte colony stimulating factor is also used clinically to repair irradiation and chemotherapy associated suppression of normal hematopoiesis in cancer patients, and to stimulate normal granulocyte development in patients with infantile congenital agranulocytosis. "
05/14/1996 - "Hematopoietic cytokines such as granulocyte CSF are now used clinically to correct defects in hematopoiesis, including repair of chemotherapy-associated suppression of normal hematopoiesis in cancer patients, stimulation of normal granulocyte development in patients with infantile congenital agranulocytosis, and increase of hematopoietic precursors for blood cell transplantation. "
04/01/1993 - "Recent clinical trials, including double-blind, randomized studies, support a role for these growth factors in the treatment of chronic neutropenias, such as Kostmann's syndrome, acquired immune deficiency syndrome (AIDS), aplastic anemia, and myelodysplasia, as well as in acute neutropenias, such as cyclic neutropenia, chemotherapy-induced neutropenia, and bone marrow transplantation."
03/01/2001 - "While the cause of AML in children is unknown, risk factors that have been identified include exposure to toxins such as ethanol, pesticides and dietary topoisomerase II inhibitors, prior chemotherapy with alkylating agents or topoisomerase II inhibitors, constitutional disorders such as Down's syndrome and type I neurofibromatosis, and haematopoietic failure syndromes such as Fanconi anaemia and severe congenital neutropenia. "