The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder.
We present immunological in vitro data on a group of 16 patients with the DiGeorge sequence (DGS). Detailed tests gave evidence that the decrease in number and function of mature T-cells is closely correlated with phenotypic expression and represents a wide immunological spectrum ranging from normal function to severe combined immunodeficiency with B-cells. Careful immunological testing in DGS may help to plan therapeutic procedures (i.e. thymic factor therapy or bone marrow transplantation), may also have prognostic significance and help to gain insight into mechanisms operative in disturbances of T-cell regulation.
Müller
W
W
Zentrum Kinderheilkunde und Humangenetik, Hannover, Federal Republic of Germany.
Peter
H H
HH
Kallfelz
H C
HC
Franz
A
A
Rieger
C H
CH
D000243:Adenosine Deaminase / Q000097:blood; D000293:Adolescent; D000920:Antibody-Dependent Cell Cytotoxicity; D002648:Child; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000201:enzymology / Q000276:immunology*; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis*; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D007158:Immunologic Techniques; D007223:Infant; D007231:Infant, Newborn; D007694:Killer Cells, Natural / Q000276:immunology; D008213:Lymphocyte Activation; D008297:Male; D011683:Purine-Nucleoside Phosphorylase / Q000097:blood
D007136:Immunoglobulins; D011683:Purine-Nucleoside Phosphorylase; D000243:Adenosine Deaminase