Clearly outlined immunodeficiencies

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IUDs not included in the group of defects of humoral and cellular immunity.

Viscott-Aldrich syndrome

Syndrome Wiskott-Aldrich (ECS) - a X-linked disease characterized by combined immunodeficiency, combined with thrombocytopenia and eczema. The disease is the result of a mutation of a gene encoding a WASP protein that is involved in actin polymerization and the formation of a cytoskeleton. The absence of WASP protein in lymphocytes and platelets of patients leads to the development of thrombocytopenia, disruption of T cells and the regulation of the synthesis of antibodies.

Diagnosis of typical forms ECS suggests male patients in the presence of thrombocytopenia with platelet decrease the size of the combined eczema and frequent bacterial infectious diseases, at least - viral and fungal etiology. However, there are often mild forms of the disease that occur with thrombocytopenia and hemorrhagic syndrome of different severity, but without the express infectious syndrome and/or allergic history. In this regard, a molecular genetic study is necessary for the final confirmation of the diagnosis.

Laboratory changes in the ECS on nonspecific and are lymphopenia, mainly by T lymphocytes, decreased functional activity of T-cells, normal or low levels of IgG, IgA and elevated levels of IgE and decreased IgM, impaired production of antibodies, especially polysaccharide antigens.

Clinical manifestations of the disease usually debuted in the first year of life. Hemorrhagic syndrome in the form of melanoma, nasal bleeding, skin hemorrhagic rash are common in all patients at the time of diagnosis. Atopic and infectious manifestations depend on the severity of the course of the disease.

For patients with SDO characterized by the development of autoimmune diseases, among which is often found autoimmune anemia, glomerulonephritis, colitis, immune neutropenia. Patients with IBS have an increased risk of developing malignant neoplasms of limforeticular origin.


Ataxia telangiectasia (A-T) (Louis-Bar syndrome) is a syndrome with an autosomal recessive type of inheritance characterized by progressive cerebellar ataxia, the appearance of small telangiectasia, especially in tuberous conjunctiva, and a combined immunodeficiency. The molecular defect is the mutation of the ATM gene encoding the protein involved in the repair of double-stranded DNA breaks and cell cycle regulation.

A characteristic finding of the laboratory at A-T is the increase of alfafetoprotein. Immunological changes - are nonspecific and include reducing the number and functional activity of T-lymphocytes, inverse ratio CD4 +/CD8 +, decrease or absence of IgA, IgG2, IgG4 and IgE, rarely found in concentrations of immunoglobulins close to normal or disimmunohlobulinemiya in a sharp decrease in IgA, IgG, IgE and a significant increase in IgM. Clinical manifestations can vary significantly in different patients. Progressing cerebellar ataxia and telangiectasia are present in all. The tendency to infections varies from very pronounced to fairly moderate. Almost all patients characterized by a high incidence of cancer.

Nijmegen's syndrome

The syndrome of Nijmegen is characterized by the presence of a characteristic phenotype and immunodeficiency in patients. The basis of the disease is a mutation of the NBS1 gene encoding the nibrin protein, which is involved in the restoration of double-stranded DNA breaks. For patients characterized by a violation of T-cell functions. Concentrations of serum immunoglobulins in patients with Nijmegen's syndrome range from subnormal values ​​to agammaglobulinemia. Clinically, in most patients, there are various infections characterized by combined immunity defects. Malignant neoplasms are found at a very high frequency.

Autoimmune lymphoproliferative syndrome

Underlying autoimmune lymphoproliferative syndrome (ALPS) are primary defects of lymphocyte apoptosis, which leads to loss of control over proliferation of lymphoid cells and negative selection of lymphocytes. The disease has a polygenic nature and is associated with a violation of the function of proteins in the Fas-mediated pathway of apoptosis. All currently known defects are inherited autosomally and recessively.

ALPS diagnosis can be assumed in patients with polyclonal hiperimmunohlobulinemiya (increased one or more classes of serum immunoglobulins) pronounced increase in lymph nodes, hepatosplenomegaly (to the exclusion of others, v. Charles cancer, the causes of these symptoms). A typical laboratory signs ALPS is the presence of double negative CD3 + CD4-CD8- lymphocytes, normally absent in peripheral blood. However, confirmation of the diagnosis is the detection of an apoptosis defect in vitro.

The main clinical manifestations of ALPS are lymphadenopathy, hepatosplenomegaly, autoimmune hemocytopenia in the form of hemolytic anemia and/or agranulocytosis and/or thrombocytopenia and other autoimmune disorders (nonspecific ulcerative colitis, arthritis, erythema nodosum, sialoadenitis, etc.). Most patients are autoantibodies to various cells and tissues.

Hyperimmunoglobulinemia syndrome E.

The molecular nature of the Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome) has not been studied to date. The type of inheritance is probably autosomal-codominance. Hyper-IgE syndrome is characterized by repeated (usually staphylococcal) abscesses of subcutaneous tissue, lungs (leading to the formation of a pneumocetyl), parenchymal organs, as well as abnormalities of the skeleton, coarse facial features (hyperterolism, broad vagina), dermatitis, and increased susceptibility to bone fractures.

Immunological mechanism of the disease is not clear. For the disease characterized by eosinophilia, extremely high serum IgE, violation of chemotaxis of neutrophils.

Defects of the system of phagocytosis

Defects in cell production and function of phagocytic system predisposing to the development pyogenic and fungal infections, as well as infections caused by intracellular microorganisms. The most frequent pathogens in these patients include Pseudomonas, Serratia marcescans, Staphylococcus aureus, a kind of mushrooms Aspergillus and Candida. This group of diseases include such conditions as chronic disease hranulematoznaya (HHB), lymphocyte adhesion molecules deficit syndrome Hristselli and others. Pulmonary infections are noted in these patients most often. Other characteristic infectious manifestations include purulent lymphadenitis, subcutaneous abscesses, osteomyelitis and sepsis.

Defects in the system of phagocytosis are not associated with an increased risk of developing non-infectious diseases, such as tumors or autoimmune diseases.

Chronic granulomatous disease

Chronic granulomatous disease (HGB) is a typical disease of this group. Four molecular defects underlying CKD have been identified. Depending on the genetic defect, the disease is inherited by X-linked or autosomal-recessive. All molecular defects causing enzyme dysfunction NADP oxidase, leading to disruption of the formation of oxygen radicals in neutrophils and intracellular Killing. For patients characterized HHB infections caused mainly catalase-producing microorganisms (staphylococci, E. coli, salmonella, Nokardiyi) of the lung, skin and subcutaneous tissue, lymph nodes, liver inflammation and the formation of granulomas and abscesses. In 10-17% of patients there is an obstruction of the urinary tract, enteritis and colitis. Infections caused by mushrooms other than the genus Candida (for example, aspergillosis) are a major danger for patients with CKD.

The diagnosis of CKD is confirmed by the detection of a decrease in peroxide radicals production when evaluated using luminol-dependent chemiluminescence and NST tests, as well as the detection of characteristic mutations.

Defects in the complement system

The defects of the complement system are the most rare type of BPD (1-3%). The hereditary defects of practically all components of the complement are described. The most common occurrence is the shortage of C2 component. Defects of the early fractions of the complement (C1-C4) are accompanied by a high frequency of autoimmune diseases, including Ch. Systemic lupus erythematosus. Defects in terminal components (C5-C9) are involved in the development of severe infections caused by representatives of the genus Neisseria. Deficiency of the C3 component often in clinical manifestations resembles humoral BPD and is accompanied by severe recurrent infections: pneumonia, meningitis, peritonitis. On the other hand, some patients with deficiency C2, C4, C9 may not have any clinical manifestations. Universal therapy for these conditions does not exist, it depends on specific clinical manifestations. Separately in this group of diseases is congenital angioedema, caused by a deficiency of the C1-inhibitor.

Queen's Edema

At the heart of the disease is a decrease in the concentration and/or function of the C1 inhibitor - almost the only inhibitor of the complement system, as well as the kinine-callicrein system. The disease is inherited by autosomal-codominance. The frequency of infectious manifestations in these patients may be somewhat elevated, but the main symptom of the disease is recurrent edema of the extremities, abdominal cavity, face and larynx. Swelling can occur involuntarily, as well as provoked by stress, minimal trauma, infection. In the pathogenesis of edema is the formation of vasoactive substances, other than histamine, due to which therapy with antihistamines and glucocorticosteroids in this condition is not effective.

Clearly outlined immunodeficiencies
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