Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes

Hauck, Fabian; Klein, Christoph

doi:10.1097/aci.0000000000000014

Cited by 39 publications

(29 citation statements)

References 170 publications

(103 reference statements)

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“…If these infections are not treated, they threaten life and the most commonly found agents include staphylococci, streptococci, gram negative bacilli and fungi. The disease becomes symptomatic in the first month in 50% of the cases and in the first six months in 100% of the cases (12)(13)(14). More than 95% of the patients give response to low dose (3-10 µg/kg) G-CSF.…”

Section: Kostmann Syndromementioning

confidence: 99%

“…Fever, oral ulcers, lymphadenopathy and severe neutropenia occur every 21 days (14-42 days) as regular attacks. The attacks generally last for 3-6 days and patients are asymptomatic during the intervals and the neutrophil counts are normal (6,(12)(13)(14). Most patients can be followed up by reducing the problems using low dose G-CSF.…”

Section: Cyclic Neutropeniamentioning

confidence: 99%

“…In addition, findings directed to specific diagnoses should be evaluated with peripheral smear. For example, presence of blasts suggests leukemia, nucleated erythrocytes suggest hemolytic anemia or blood loss, hypersegmented neutrophils suggest vitamin B 12 Turk Pediatri Ars 2015; 50: 136-44 Celkan and Koç. Childhood neutropenia or folic acid deficiency and neutrophils with pycnotic nuclei suggest myelokathexis.…”

Section: Evaluation Of Neutropenic Patientsmentioning

confidence: 99%

“…Growth and development should be closely monitored in children with recurrent infections caused by chronic severe neutropenia. ANA should be tested in patients with findings of rheumatic disease and vitamin B 12 and folic acid levels should be measured in patients with malnutrition. Neutropenic patients with recurrent infections and a familal history of sibling death should definitely be evaluated in terms of immune deficiency.…”

Section: Neutrophil Reserve In the Vascular Wallmentioning

confidence: 99%

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Approach to the patient with neutropenia in childhood

Çelkan

Koç

2015

Turk Pediatri Ars

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Neutrophils have an important role in host defense and acute inflammation. It is well known that susceptibility to infection increases when the neutrophil count is low. Neutropenia were classified as mild, moderate and severe according to the neutrophil counts, or acute and chronic depending on the duration of neutropenia, or congenital and acquired according to the mechanism. The patients with neutropenia are clinically different due to underlying mechanism, they have life-threatening infections or no infection may be observed. The most common cause of acquired neutropenia is viral infection, followed by drugs and autoimmune neutropenia. Congenital neutropenia are usually diagnosed by acute and life-threatening invasive bacterial and fungal infections. Immune system disorders and other systemic abnormalities may be accompanied or not. Recent years, novel single gen defects causing congenital neutropenia were defined through advanced genetic techniques. Molecular diagnosis is useful for risk stratification, choice of therapy and prognosis on follow-up. This review was prepared for pediatricians as a guide focused on approach neutropenia, which tests should be performed and when should be referred to a specialist. (Turk Pediatri Ars 2015; 50: 136-44)

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Section: Kostmann Syndromementioning

confidence: 99%

Section: Cyclic Neutropeniamentioning

confidence: 99%

Section: Evaluation Of Neutropenic Patientsmentioning

confidence: 99%

Section: Neutrophil Reserve In the Vascular Wallmentioning

confidence: 99%

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Approach to the patient with neutropenia in childhood

Çelkan

Koç

2015

Turk Pediatri Ars

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“…26 In addition to a prominent role in protecting against cell death, HAX1 has also been reported to be involved in multiple other cellular functions, such as calcium homeostasis, cell motility and cytoskeletal rearrangement, and messenger RNA processing. 27 To date, it remains challenging to unify these diverse functions of HAX1 in a simple concept.…”

Section: Scn3 (Hcls1-associated Protein X-1 [Hax1])mentioning

confidence: 99%

Children with rare diseases of neutrophil granulocytes: from therapeutic orphans to pioneers of individualized medicine

Klein

2016

Hematology

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Neutrophil granulocytes are the most abundant immune cells in the blood yet the pathways orchestrating their differentiation and biological function remain incompletely understood. Studying (ultra-) rare patients with monogenetic defects of neutrophil granulocytes may open new horizons to understand basic principles of hematopoiesis and innate immunity. Here, recent insights into genetic factors controlling myelopoiesis and their more general role in biology will be presented in a clinical perspective. Advances in supportive care, first and foremost the use of recombinant human granulocyte-colony stimulating factor, has made a substantial difference for the quality of life and life expectancy of patients with congenital neutropenia (CN). Up to date, the only definitive cure can be provided by transplantation of allogeneic hematopoietic stem cells. The elucidation of the underlying molecular factors contributing to defective differentiation and function of neutrophil granulocytes nurtures new ideas of targeted individualized therapies.

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Inherited Aplastic Anaemia/Bone Marrow Failure Syndromes

Dokal

2015

Postgraduate Haematology

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Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes

Cited by 39 publications

References 170 publications

Approach to the patient with neutropenia in childhood

Approach to the patient with neutropenia in childhood

Children with rare diseases of neutrophil granulocytes: from therapeutic orphans to pioneers of individualized medicine

Inherited Aplastic Anaemia/Bone Marrow Failure Syndromes

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