Non-X-linked hyper-IgM syndrome with systemic lupus erythematosus.
A 24-year-old woman had suffered from recurrent bacterial infections and clinical manifestations of systemic lupus erythematosus (SLE). Laboratory findings disclosed an elevated level of serum IgM, markedly decreased IgG, IgA, IgD and IgE levels, and low levels of serum complement. Both the CD40 and CD40 ligands appeared to be normally expressed. Assays of in vitro immunoglobulin production by lymphocytes showed that IgM was produced normally and that IgE but not IgG or IgA production was rescued by signaling through CD40 on B cells. The proliferative response of lymphocytes to phobol ester was markedly decreased, suggesting some impairment of signal transduction in the patient's lymphocytes.
Arai
J
J
First Department of Internal Medicine, Ehime University School of Medicine, Japan.
Yasukawa
M
M
Takada
K
K
Tange
Y
Y
Saiki
O
O
Horiuchi
T
T
Tamai
T
T
Fujita
S
S
D000328:Adult; D019013:CD40 Antigens / Q000032:analysis; D023201:CD40 Ligand; D002273:Carcinogens / Q000494:pharmacology; D002455:Cell Division / Q000187:drug effects / Q000276:immunology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007070:Immunoglobulin A / Q000097:blood; D007073:Immunoglobulin E / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008214:Lymphocytes / Q000737:chemistry / Q000166:cytology / Q000187:drug effects; D008562:Membrane Glycoproteins / Q000032:analysis; D010703:Phorbol Esters / Q000494:pharmacology; D014960:X Chromosome
D019013:CD40 Antigens; D002273:Carcinogens; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D010703:Phorbol Esters; D023201:CD40 Ligand; D007073:Immunoglobulin E