Congenital neutropenia and low serum immunoglobulin A: description and investigation of a large kindred.
A kindred is described in which neutropenia and low serum immunoglobulin A levels has occurred. The affected members have variable clinical courses which do not appear to relate to the degree of neutropenia. The bone marrows show a maturation delay in granulocyte production, with increased numbers of lymphocytes. In vitro cultures of the bone marrows failed to produce granulocyte colonies. Studies of peripheral blood and bone marrow lymphocyte subpopulations give inconsistent results, although a general increase in T suppressor lymphocytes compared with T helper lymphocytes emerges. A therapeutic trial of corticosteroid and then of lithium carbonate was without effect on one of the patients. The pathogenetic basis for this probably X-linked disorder remains unclear.
Cryan
E F
EF
Our Lady's Hospital for Sick Children, Dublin, Ireland.
Deasy
P F
PF
Buckley
R J
RJ
Greally
J F
JF
D000293:Adolescent; D000328:Adult; D000380:Agranulocytosis / Q000151:congenital*; D001854:Bone Marrow Cells; D002648:Child; D002986:Clinical Trials as Topic; D005260:Female; D006801:Humans; D007070:Immunoglobulin A / Q000032:analysis*; D008094:Lithium / Q000627:therapeutic use; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D010375:Pedigree; D011239:Prednisolone / Q000627:therapeutic use
D007070:Immunoglobulin A; D008094:Lithium; D011239:Prednisolone