Agammaglobulinemy related to the sex

The disease of Bruton is a immunizing Déficit congenital of genetic cause. It is the first deficit described, in 1952.

The gene concerned being located on the part of the Chromosome X which is lacking with the Y chromosome, and being transmitted on the recessive mode, it reaches only the boys, like the Hémophilie.

Code CIM-10

D80.0

Signs

It is about a pure and diagrammatic deficit of the cellular line Lymphocyte B - Plasmocyte, person in charge of the manufacture of immunoglobulins. The Immunoglobuline is the support of the activity Anticorps. Cellular immunity is unscathed.

The signs appear in very the young child, in the first year of the life, in the form of infections to repetition, in particular respiratory, especially of bacterial origin.

Diagnosis

At a young boy, the presence with the electrophoresis of serum proteins of a collapse of gamma globulines is very evocative.

Proportionings of immunoglobulins show a major deficit typically relating to all the classes.

Osseous marrow does not contain plasmocytes.

The pathological examination anatomo of the ganglia (if it is the case) does not show any lymphoid follicule.

The remainder of immunological explorations is normal.

Treatment

It is advisable to mitigate the deficit by managing immunoglobulins regularly. This treatment is prolonged, without alternative within the current framework of science.

The current preparations of general-purpose immunoglobulins per venous way are much subjected to a transmission risk of viral diseases (Hépatite B, VHC, HIV).

The patients are however likely to start reactions " allergiques" with Immunoglobulins injected, of difficult treatment.

External bonds

  • Agammaglobulinémie. Site of the university of Rouen
  • Association Iris
  • Vulgaris-medical Orphanet

Sources

  • Hematology . - Najman Albert; Verdy E.; Potron G.; Isnard F. - Edition Marketing. 32 Rue Barque 75015 Paris.
  • clinical Hematology . - Maxwell Mr. Wintrobe and coll - international medical Editions. Alley of the Worked Crosses 94264 Cachan Cedex
  • Mary Ellen Conley, Vanessa C Howard, X-Linked Agammaglobulinemia in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2006

References

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