Table 1

Congenital causes of neutropenia

Congenital causePossible hints
1. Kostmann’s syndrome
2. Shwachman-Diamond syndromeSkeletal abnormalities, hard to flush stools
3. Bone marrow failure, including Fanconi anaemia*, dyskeratosis congenita*, Bloom’s syndrome*, amegakaryocytic thrombocytopenia*Café au lait spots, thumb or nail abnormalities— Fanconi
Dystrophic nails, Leukoplakia dyskeratosis
4. Inborn errors of metabolism (including glycogen storage disease 1b, Pearson’s syndrome, methylmalonic aciduria)Hepatosplenomegaly
5. Immunodeficiency (including hyperimmune IgM syndrome, X linked agammaglobulinaemia, hypogammaglobulinaemia)
6. Myelokathexis
7. Reticular dysgenesis
8. Cartilage-hair hypoplasiaSkeletal abnormalities
9. Barth’s syndrome
10. Griscelli syndrome
11. Schimke immuno-osseous dysplasia
  • *These may also present with pancytopenia, or with other isolated cytopenias.