Biomaterial Database

Infantile genetic agranulocytosis. A review with presentation of ten new cases. 1975

R Kostman

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.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007232	Infant, Newborn, Diseases	Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.	Neonatal Diseases,Disease, Neonatal,Diseases, Neonatal,Neonatal Disease
D007958	Leukocyte Count	The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells.	Blood Cell Count, White,Differential Leukocyte Count,Leukocyte Count, Differential,Leukocyte Number,White Blood Cell Count,Count, Differential Leukocyte,Count, Leukocyte,Counts, Differential Leukocyte,Counts, Leukocyte,Differential Leukocyte Counts,Leukocyte Counts,Leukocyte Counts, Differential,Leukocyte Numbers,Number, Leukocyte,Numbers, Leukocyte
D009000	Monocytes	Large, phagocytic mononuclear leukocytes produced in the vertebrate BONE MARROW and released into the BLOOD; contain a large, oval or somewhat indented nucleus surrounded by voluminous cytoplasm and numerous organelles.	Monocyte
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012156	Reticulocytes	Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.	Reticulocyte
D004804	Eosinophils	Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin.	Eosinophil
D004906	Erythrocyte Count	The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.	Blood Cell Count, Red,Erythrocyte Number,Red Blood Cell Count,Count, Erythrocyte,Counts, Erythrocyte,Erythrocyte Counts,Erythrocyte Numbers
D006452	Hemoglobinometry	Measurement of hemoglobin concentration in blood.	Hemoglobinometries
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man