Infantile Genetic Agranulocytosis

Abstract

A review of the literature on the subject since 1956 is made in connection with a presentation of ten new cases from northern Sweden. Nine of these are related to the main pedigree published in 1956. Consanguinity between the parents has been established in two of the new families. The clinical course was identical to that described in 1956. A few additional details are presented. The granulocytopenia is present on the first day of life and the granulocyte count subsequently rapidly decreases during the first week. The existence of a diaplacental factor is regarded highly probable. It is assumed that the maturation defect in the granulocyte precursors may be due to deficiency of a serum factor. The fact that many cases of infantile genetic agranulocytosis occur sporadically is finally explained.

Chronic Neutropenia and Defect in Superoxide Generation of Granulocytes in Two Patients: Enhancement of Bactericidal Capacity and Respiratory Burst Activity by Treatment with Recombinant Human Granulocyte Colony-Stimulating Factor

“…Bone marrow morphology in one of the patients (patient 2) fulfilled one of the criteria of Kostmann's syndrome, namely maturation arrest at the promyelocyte-myelocyte stage, but the number of peripheral blood granulocytes exceeded 200/pL, which could not be expected in this syndrome (26). Another unusual finding in this patient was the association of chronic neutropenia with Duane syndrome.…”

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

“…[1][2][3] SCN was first reported more than 50 years ago 4 ; however, causative genes are still being discovered, and all patterns of inheritance have been described. Mutations in the neutrophil elastase gene (ELANE) result in the majority of cases, but less commonly mutations in HAX1, GFI1, and CSF3R can also cause SCN.…”

Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation

“…The presence of MDS in four patients (patients 1, 2, 3, and 5) and cytogenetic abnormalities in five patients (1)(2)(3)(4)(5) suggests that there is a window between the development of MDS and the progression to AML. In patients 3 and 5, AML evolved from previously detected MDS, which was diagnosed 11 and 25 months earlier, respectively.…”

“…1 Kostmann syndrome (KS) is a subtype of SCN that was originally described in a Swedish population with congenital neutropenia and an autosomal recessive inheritance pattern. 2,3 KS patients have neutropenia recognized from birth or shortly thereafter, accompanied by life-threatening bacterial infections. SCN patients have the same hematologic phenotype and clinical presentation as KS, without a defined pattern of inheritance.…”