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The DiGeorge sequence

II. Immunologic findings in partial and complete forms of the disorder

  • Immunology/Allergology
  • Published:
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Abstract

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.

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Abbreviations

ADCC:

antibody-dependent cellular cytotoxicity

ANAE:

acid α-naphthyl-acetate-esterase

BSA:

bovine serum albumin

eDGS:

complete DiGeorge sequence

CIg:

cytoplasmatic immunoglobulin

ConA:

concanavalin A

cpm:

counts per minute

DGS:

DiGeorge sequence

Ig:

immunoglobulin

IL-2:

interleukin 2

ISI:

integrated stimulation index

LGL:

large granular lymphocyte

NK:

natural killer cell

PBMC:

peripheral blood mononuclear cell

pDGS:

partial DiGeorge sequence

PHA:

phytohaemagglutinin

PPD:

purified protein derivate

PWM:

pokeweed mitogen

SD-score:

standard-deviation-score

SIg:

surface immunoglobulin

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Authors and Affiliations

  1. Zentrum Kinderheilkunde und Humangenetik, Medizinische Hochschule, Konstanty-Gutschow-Strasse 8, D-3000, Hannover, Federal Republic of Germany

    W. Müller & H. C. Kallfelz

  2. Abteilung für Rheumatologie und klinische Immunologie, Innere Medizin, Universitätsklinik, D-7800, Freiburg, Federal Republic of Germany

    H. H. Peter

  3. Zentrum für innere Medizin, Medizinische Hochschule, Konstanty-Gutschow-Strasse 8, D-3000, Hannover, Federal Republic of Germany

    A. Franz

  4. Zentrum für Kinderheilkunde, der Universitäts-Klinik, D-3500, Marburg, Federal Republic of Germany

    C. H. L. Rieger

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  1. W. Müller
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  2. H. H. Peter
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  3. H. C. Kallfelz
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  4. A. Franz
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  5. C. H. L. Rieger
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Müller, W., Peter, H.H., Kallfelz, H.C. et al. The DiGeorge sequence. Eur J Pediatr 149, 96–103 (1989). https://doi.org/10.1007/BF01995856

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  • DOI: https://doi.org/10.1007/BF01995856

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