Defects in cell component and combined defects

The main manifestations of this group of immunodeficient states.

immunodeficiency diseases involving T-cell immunity are diverse and vary according to the severity of symptoms and the presence of infectious concomitant infectious disease.

These patients are subject to opportunistic infections caused by protozoa, viruses (Herpes simplex, Varicella zoster, Cytomegalovirus) or fungi.Often these patients suffer progressive pneumonia caused by parainfluenza virus type 3, CMV and Pneumocystis carinii.Defeat varying function of T-lymphocytes, usually leads to disruption and specificity of the humoral response as a function of B lymphocytes depend on the normal function of T-lymphocytes.In this regard, these patients also meets all the pathogens spectrum characteristic of humoral defects.For diseases in this group include severe combined immune deficiency (SCID), DiGeorge syndrome, and others.

Most combined CIDs other than the infectious syndrome characterized by increased frequency of autoimmune diseases,

in particular neutropenia, thrombocytopenia, arthritis, nephritis, etc. Additionally,these patients are more susceptible to the frequency of cancer, particularly lymphoreticular origin.

severe combined immune deficiency

most serious disease from the group of combined defects - severe combined immune deficiency (SCID), which manifests itself in the first months of life.

SCID is a genetically heterogeneous group of diseases, which are based on violation of maturation of T lymphocytes with a complete absence of their function.Depending on the genetic defect inherited disease X-linked or autosomal recessive.The criteria for the diagnosis of all forms of SCID are hypoplasia of the lymphatic tissue, lymphopenia, marked reduction of CD3 + lymphocytes, a significant reduction in the concentrations of serum immunoglobulins, early onset of severe infections.Depending on the form of the disease in the number of lymphocytes varies from zero (T-B) to a normal value (B + T), but in all cases their function is sharply compromised.In some forms of SCID is determined by the normal number of lymphocytes NK (NK +).

Typical manifestations include delayed physical development, chronic diarrhea, severe thrush and fungal skin lesions, progressive failure of the respiratory tract in the form pnevmotsictnyh pneumonia, viral bacterial infections, pneumonia and sepsis.When BCG vaccination in these patients is often a local or systemic BCG infection.If the chest X-rays of these patients should guard no shadow thymus.

DiGeorge Syndrome

At the heart of DiGeorge syndrome is fairly common chromosomal aberration - the deletion 22q11.2, leading to disruption of the formation of organs originating from the 3rd gill arch (thymus, parathyroid, large vessels and others.).The gene directly responsible for the development of this syndrome is not known.

syndrome is characterized by immunodeficiency and typical lesions of various organs.The disease varies in range and severity of clinical manifestations and can also be found under the name "kardiovelofatsialny syndrome», «CATCH-syndrome".The most severe form of DiGeorge syndrome is characterized by the complete absence of thymus and, as a consequence, the complete absence of T-lymphocytes and B-lymphocytes nonfunctional.

disease occurs in the same way as described above SCID, however, the frequency of "full" DiGeorge syndrome is low - 0.2 per 100 thousand people. (For comparison, the frequency of SCID - 1.5 per 100 thousand people.).Much more common less serious disorders of immunity, leading to the development of recurrent sinusitis, ear infections, lung infections.For DiGeorge syndrome is characterized as autoimmune manifestations (cytopenia, rheumatoid arthritis, thyroiditis), and tumors (usually lymphoma).

For non-immunological syndrome defects include heart disease (tetralogy of Fallot, aortic stenosis, septal defect, truncus arteriosus), the pathology of the palate (splitting submucosal splitting, split uvuli), especially the facial skeleton (low set prominent ears, palpebral), latereruption and enamel hypoplasia, skeletal abnormalities (spine anomalies of the lower limbs), hypocalcemia, rarely - renal failure, retinal vessels, dizgeneziya front chamber of the eye, neurological disorders (atrophy of the cortex, cerebellar hypoplasia), the backlog of mental development.

These symptoms may occur both separately and in combination with each other and immunological defects.Laboratory in patients with DiGeorge syndrome, lymphopenia detected with varying degrees of reduction in T-lymphocytes, the violation of their mitogenic response, increased or normal number of B-lymphocytes, different degree of reduction of the level of immunoglobulins.

Magazine "Difficult patient» №2-2007.

article is provided by a charitable foundation to help children with impaired immunity "Sunflower".

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