hyper-igm syndromes are characterized by profound reduction of serum igg, iga, and ige levels with normal or increased concentrations of serum igm. cd40 ligand deficiency is x-linked form of the disease, which results in a lack of immunoglobulin class switching from igm to igg in b cells. in addition to the recurrent infections, a number of patients suffer from neutropenia. there are some evide...

OVER THE PAST DECADE, ENORMOUS PROGRESS HAS BEEN MADE IN THE UNDERSTANDING OF SEVERE CONGENITAL NEUTROPENIA (SCN), BY IDENTIFICATION OF SEVERAL CAUSAL GENE MUTATIONS: in ELANE, GFI1, HAX1, WAS and G3PC3. SCN is a preleukemic condition, independent of the genetic subtype. Acquired CSF3R mutations are specific for SCN and are strongly associated with malignant progression. In this review, we desc...

Mutations of the WASP gene have been previously shown to be responsible for classical Wiskott-Aldrich syndrome, isolated X-linked thrombocytopenia, and severe, congenital X-linked neutropenia. We report herewith 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other major clinical features, and carried...

Kostmann (1956, 1975) described an inherited haematological disorder with severe neutropenia with an absolute neutrophil count (ANC) , 0 ́2 10/l and early onset of severe bacterial infections. Most children died because of these infections, despite antibiotic treatment. Different treatment strategies for congenital neutropenia (CN) included use of steroids and lithium (Barrett et al, 1977; Hrake...

We report a case of a child with severe congenital neutropenia (Kostmann's syndrome) who was treated with daily prophylactic subcutaneous granulocyte colony-stimulating factor (G-CSF) from the age of eight to sixteen years before being discontinued for poor haematological and clinical response. She did not have a HLA-matched sibling to enable bone marrow transplantation. She subsequently develo...

Granulocyte colony-stimulating factor (G-CSF) is a key regulator of granulopoiesis via stimulation of a specific cell-surface receptor, the G-CSF-R, found on hematopoietic progenitor cells as well as neutrophilic granulocytes. It is perhaps not surprising, therefore, that mutations of the G-CSF-R has been implicated in several clinical settings that affect granulocytic differentiation, particul...

Neutropenia is a rare complication of Diamond-Blackfan syndrome (congenital hypoplastic anaemia). Three patients are reported: all had neutropenia as well as anaemia, and to investigate the cause of the neutropenia culture of bone marrow for granulocyte-macrophage colony forming cells (GMCFCs) was performed. Two cases had a low incidence of GMCFCs, but the third case had a high incidence. These...