Common variable immunodeficiency

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Common Variable Immunodeficiency

Common variable immunodeficiency or CVID ( Common variable immunodeficiency ; OMIM: 240500 ) is a designation for a heterogeneous group of primary immunodeficiencies .

Etiology and pathogenesis[edit | edit source]

Antibody types The exact cause of the disease is still unknown. In addition to genetic factors, the influence of the external environment also applies to a large extent. There are more genes mutated in patients with CVID. Mutations were discovered, for example, in section III. major histocompatibility complex class (MHC III, 6p21.3). Other candidate genes are, for example: BTK (Xq21.3-q22), SH2D1A (Xq25), CD40LG (Xq26), CD40 (20q12-q13.2), AID (12p13) or TNFRSF13B (17p11.2).

Clinical picture[edit | edit source]

Antibody types

The etiology is therefore not uniform. However, a unifying aspect for the various CVIDs is a phenotype similar to Bruton's agammaglobulinemia . However, compared to Bruton's agammaglobulinemia, the overall course in CVID is less severe and the onset of the disease is delayed until the period between 1 and 5 years of age, between 16 and 20 years of age or after 30 years of age (the onset of the disease can occur practically at any time ).

In patients, we find reduced levels of antibodies, especially IgG, IgA and IgM (mostly of all isotypes), while changes in indicators of cellular immunity are uncharacteristic (normal or even lower concentrations of B or T lymphocytes). For the diagnosis of CVID ( common variable immunodeficiency ), the reduction or absence of individual antibody isotypes is decisive. Clinically, the disease occurs as an increased tendency to infections, namely bacterial ones , the respiratory tract is most affected. In childhood otitis, in adulthood more sinusitis, bronchitis, bronchopneumonia are also common.

Bronchiectasis can also develop in the case of an untreated disease (it is treated with the substitution of gammaglobulin preparations). A late complication is interstitial pulmonary fibrosis.

Patients also have an increased tendency to allergies and autoimmune diseases (mainly autoimmune thyroiditis). For some, herpes simplex is the first symptom, even though the resistance of these patients to viral infections is not impaired.

The diagnosis is established on the basis of proven repeated reduction of IgG, IgA and IgM antibodies - in protein electrophoresis by reduction of the gamma fraction of globulins. The changes that we find in the indicators of specific cellular immunity (T and B lymphocytes) during the examination are not characteristic, they can be normal or even reduced.

Links[edit | edit source]

Source[edit | edit source]

ŠIPEK, Antonín. Genetically determined disorders of the immune system [online]. Last revision 9/6/2006, [cit. 5/12/2009]. < http://www.genetika-biologie.cz/primarni-immunodeficiency >.

References[edit | edit source]

BARTŮŇKOVÁ, Jiřina. Immunodeficiency. 1st edition. Prague: Grada, 2002. 228 pp. ISBN 80-247-0244-4 .

FUČIKOVA, Terezia. Clinical immunology in practice. 2nd edition. Prague: Galén, 1997, c1995. ISBN 8085824574 .