In 1956 Rolf Kostmann reported on six @entity1 with severe @entity1398 associated with a block in myelopoiesis at the promyelocyte/myelocyte stage and an autosomal recessive inheritance. He named the new @entity74 . Today it is known as @entity9957 or severe @entity9957 . In 1975 an additional 10 cases from northern Sweden were published. This article reports on the only long-term survivor from the 1975 report plus another five @entity1 born after 1975 who belong to the original "Kostmann family". Treatment and survival have changed dramatically since Kostmann's first publication. In the pre-antibiotic era, @entity9957 was inevitably fatal during the first year of life. CONCLUSION: Since the introduction of recombinant @entity1 @entity1261 ( @entity1261 ) about 10 y ago, most @entity1 now enjoy a normal life span and a greatly improved quality of life. Although the threat of @entity204 has disappeared, @entity1 still have problems with @entity281 , especially @entity102 and @entity2521 . In other groups of severe @entity1398 , not related to the original "Kostmann family", an increased incidence of @entity1778 has been observed. However, in this small cohort none of the @entity1 on chronic @entity1261 therapy have developed @entity5 .

XXXX , morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review.

@entity1 :: ('9606', 'Species') :: ['children', 'human', 'patients'] @entity1261 :: ('1440', 'Gene') :: ['G-CSF', 'granulocyte colony-stimulating factor'] @entity5 :: ('MESH:D009369', 'Disease') :: ['malignancies'] @entity102 :: ('MESH:D002908', 'Disease') :: ['chronic gingivitis'] @entity9957 :: ('MESH:C537592', 'Disease') :: ['congenital neutropenia', "Kostmann's syndrome"] @entity1398 :: ('MESH:D009503', 'Disease') :: ['neutropenia'] @entity281 :: ('MESH:D007239', 'Disease') :: ['infections'] @entity1778 :: ('MESH:D007938', 'Disease') :: ['myeloid leukaemia'] @entity74 :: ('MESH:D030342', 'Disease') :: ['syndrome infantile genetic agranulocytosis'] @entity2521 :: ('MESH:D010518', 'Disease') :: ['periodontitis'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death']
@entity74 :: (MESH:D030342,Disease) :: ['Infantile genetic agranulocytosis']
