Hypogammaglobulinemia with hyper-IgM, severe T-cell defect, and abnormal recirculation of OKT4 lymphocytes in a girl with chronic lymphadenopathy.
We describe here one 8-year-old girl with an unusual form of immunodeficiency, characterized by hypogammaglobulinemia with hyper-IgM, severe T-cell defect, and chronic lymphadenopathy. Patient's B cells failed to produce IgG or IgA in vitro following stimulation with either pokeweed mitogen or Epstein-Barr virus, suggesting an intrinsic B-cell defect. Abnormal T-cell function was demonstrated by impaired in vivo delayed type hypersensitivity, reduction of mitogen-induced proliferation and interleukin 2 production, reduction of interferon-gamma production, and marked decrease of circulating OKT4+ cells. The latter cells were found in normal proportion in the patient's lymph node tissue. This finding suggests that the decrease of OKT4+ cells in peripheral blood was due to the abnormal recirculation of these cells. The identity of this syndrome with the infantile form of the acquired immunodeficiency syndrome was apparently ruled out by the failure to demonstrate HTLV-III-related sequences in patient's lymphocytes or virus-specific serum antibodies.
Fiorilli
M
M
Russo
G
G
Paganelli
R
R
Papetti
C
C
Carbonari
M
M
Crescenzi
M
M
Calvani
M
M
Quinti
I
I
Aiuti
F
F
D000361:Agammaglobulinemia / Q000097:blood / Q000276:immunology*; D000911:Antibodies, Monoclonal; D001402:B-Lymphocytes / Q000378:metabolism; D002648:Child; D002908:Chronic Disease; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000097:blood / Q000276:immunology*; D007075:Immunoglobulin M / Q000096:biosynthesis*; D007371:Interferon-gamma / Q000096:biosynthesis; D008198:Lymph Nodes / Q000276:immunology; D008232:Lymphoproliferative Disorders / Q000097:blood / Q000276:immunology*; D010641:Phenotype; D013601:T-Lymphocytes / Q000145:classification / Q000276:immunology* / Q000502:physiology
D000911:Antibodies, Monoclonal; D007075:Immunoglobulin M; D007371:Interferon-gamma