Elsevier

Journal of Infection

Volume 33, Issue 2, September 1996, Pages 123-126
Journal of Infection

Case report
Dominantly inherited severe congenital neutropenia

https://doi.org/10.1016/S0163-4453(96)93081-9Get rights and content

We report a family with autosomal dominant inherited neutropenia, characterized by maturation arrest of neutrophil precursors and hypergammaglobulinaemia. A mother, two children by her first marriage and two by her second were affected. They suffered recurrent lung, skin, ear and periodontal infections. Four have had appendicitis, and three mastoiditis. One died at 7 years from neutropenic enterocolitis, and a second at 10 years from small bowel infarction. Four who were treated with rhGCSF responded to 5–14 μg/kg/day with normal neutrophil counts. Daily therapy has maintained neutrophil counts above 1000 × 109 per litre. Elective appendicectomy and long term G-CSF therapy are indicated.

References (12)

There are more references available in the full text version of this article.

Cited by (31)

  • Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia

    2022, Molecular Therapy Methods and Clinical Development
    Citation 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 Biology
    Citation 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.

  • Mutations in the ELA2 gene correlate with more severe expression of neutropenia: A study of 81 patients from the French Neutropenia Register

    2004, Blood
    Citation 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

View all citing articles on Scopus
View full text