Case reportDominantly inherited severe congenital neutropenia
References (12)
- et al.
Differential effects of granulocytemacrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia
Blood
(1990) - et al.
Granulocyte colony stimulating factor production and G-CSR receptor structure in patients with congenital neutropenia
Blood
(1994) - et al.
Acute appendicits in children with leukaemia and other malignancies: still a diagnostic dilemma
J Pediatr Surg
(1992) Infantile genetic agranulocytosis
Acta Paediatr Scand
(1956)A Case of cyclical neutropenia
- et al.
An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinaemia
Br J Haematol
(1977)
Cited by (31)
Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia
2022, Molecular Therapy Methods and Clinical DevelopmentCitation Excerpt :The most frequent causes of SCN are heterozygous mutations in the ELANE gene encoding NE.4,37,38 ELANE mutations are characterized by their dominant nature, resulting in the development of neutropenia despite the presence of one intact wild-type ELANE allele.8,37,39,40 The pathophysiological pathways that underlie neutrophil maturation arrest may vary depending on which elastase domain was affected by the mutation.41,42
Mechanisms of Disordered Granulopoiesis in Congenital Neutropenia
2006, Current Topics in Developmental BiologyCitation Excerpt :The studies have found evidence of cycling in patients classified as having SCN (Haurie et al., 1999), suggesting that SCN and CN are related and may fall along a continuum of disorders of granulopoiesis. Cyclic neutropenia is inherited in an autosomal dominant fashion (Briars et al., 1996), whereas SCN demonstrates multiple modes of inheritance, including autosomal recessive, autosomal dominant, X‐linked, and sporadic patterns. Accordingly, genetic studies have identified a single gene (ELA2) associated with CN but multiple gene mutations in SCN, including ELA2, GFI1, CSF3R, and WAS.
The genetic basis of bone marrow failure syndromes in children
2005, Molecular Genetics and MetabolismMutations in the ELA2 gene correlate with more severe expression of neutropenia: A study of 81 patients from the French Neutropenia Register
2004, BloodCitation Excerpt :Initially described as an autosomal recessive disease in a Swedish family, most reported cases of SCN have been sporadic.3,4 A few cases consistent with autosomal dominant inheritance have been identified.5 CN is characterized by recurrent severe neutropenia (< 0.5 × 109/L) with a 21-day cycle.6