Clearly defined immunodeficiency

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

syndrome Wiskott-Aldrich Syndrome

Wiskott-Aldrich syndrome (CBO) - This X-linked disorder characterized by combined immunodeficiency together with thrombocytopenia and eczema.The disease is the result of mutation of the gene encoding the protein WASP, which is involved in actin polymerization and the formation of the cytoskeleton.The absence of WASP protein in lymphocytes and platelets of patients leads to the development of thrombocytopenia, dysfunction of T-cell and antibody synthesis regulation.

Diagnosis of typical forms of SVO can be assumed in male patients in the presence of thrombocytopenia with platelet decrease the size in combination with eczema and frequent bacterial infectious diseases, at least - of viral and fungal etiology.However, often there are lighter forms of the disease, occurring with thrombocytopenia and haemorrhagic syndrome of varying severity, but without an apparent infectious syndrome and / or

allergic history.In this regard, molecular genetic testing is necessary for the final confirmation of the diagnosis.

Laboratory changes when its a relatively non-specific and are presented lymphopenia, mainly at the expense of T-lymphocytes, decreased functional activity of T-cells, normal or reduced levels of IgG, elevated levels of IgA and IgE, and decreased IgM, impaired production of antibodies, particularly to polysaccharide antigens.

Clinical manifestations of the disease tend to make their debut in the first year of life.Hemorrhagic syndrome as melena, nasal bleeding, skin purpura most often available in all patients at diagnosis.Atopic and infectious manifestations depend on the severity of the disease.

For patients CBO characterized by the development of autoimmune diseases, including common autoimmune anemia, glomerulonephritis, colitis, immune neutropenia.Patients with SVR increased risk of malignancies lymphoreticular origin.

Ataxia-telangiektaziya

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

characteristic laboratory finding in the A-T is to increase AFP.Immunological changes - non-specific and include reducing the number and functional activity of T-lymphocytes, inversion ratio CD4 + / CD8 +, reduced or absent IgA, IgG2, IgG4 and IgE, less often detected immunoglobulin concentrations close to normal or disimmunoglobulinemiya a sharp decline IgA, IgG, IgE and a significant increase in IgM.Clinical manifestations can vary significantly in different patients.Progressive cerebellar ataxia and telangiektazii present in all.Tendency to infections ranges from very mild to very severe.Virtually all patients are characterized by a high incidence of malignant tumors.

Syndrome

Nijmegen Nijmegen syndrome characterized by the presence of the characteristic phenotype of patients and immunodeficiency.The disease is a mutation of the NBS1 gene encoding a protein nibrin who takes part in the reconstruction of double-strand DNA breaks.For patients characterized by dysfunction of T-cells.The concentrations of serum immunoglobulins in patients with the syndrome Nijmegen range from subnormal values ​​to agammaglobulinemia.Clinically, most patients observed various infections characteristic of combined defects of the immune system.Malignant tumors occur with a very high frequency.

autoimmune lymphoproliferative syndrome

are primary defects of lymphocyte apoptosis Underlying autoimmune lymphoproliferative syndrome (ALPS), which leads to loss of control over the proliferation of lymphoid cells and negative selection of lymphocytes.The disease is a polygenic nature and involve a violation of the function of proteins Fas-mediated apoptotic pathways.All of the currently known defects are inherited autosomal recessive.

diagnosis of ALPS can be assumed if the patient polyclonal Hyper (raised one or more classes of serum immunoglobulins), a marked increase in the lymph nodes, hepatosplenomegaly (to the exclusion of others, in t. Ch. Cancer, causes of these symptoms).Laboratory characteristic feature is the presence of double ALPS negative CD3 + CD4-CD8- lymphocytes, normally absent in peripheral blood.However, confirmation of the diagnosis is to identify in vitro apoptosis defect.

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

hyper IgM syndrome E

molecular nature Hyper E syndrome (Hyper-IgE-syndrome) has not yet been studied.Inheritance is probably autosomal co-dominant.Hyper-IgE-syndrome is characterized by recurrent (usually staphylococcal) abscesses subcutaneous tissue, the lungs (leading to the formation pnevmotsele), parenchymal organs, as well as abnormalities of the skeleton, coarse facial features (hypertelorism, broad nasal bridge), dermatitis, increased tendency to bone fractures.

immunological mechanism of the disease has not been elucidated.For the disease characterized by eosinophilia, extremely high serum levels of IgE, a violation of neutrophil chemotaxis.

Defects of phagocytosis

Defects in the system of production and function of cells of the phagocytic system predispose to pyogenic and fungal infections as well as infections caused by intracellular microorganisms.The most common pathogens in these patients include Pseudomonas, Serratia marcescans, Staphylococcus aureus, a well as fungi of the genus Aspergillus and Candida.This group of diseases include conditions such as chronic granulomatous disease (CGD), a deficiency of lymphocytes adhesion molecules, Gristselli syndrome, and others. Pulmonary infections have been reported in these patients, the most frequently.Other manifestations include typical infectious purulent lymphadenitis, subcutaneous abscesses, osteomyelitis, and sepsis.

Defects of phagocytosis system is not associated with an increased risk of infectious disease, such as cancer or autoimmune diseases.

Chronic granulomatous disease

Chronic granulomatous disease (CGD) is a typical disease of the group.It revealed four of the molecular defect underlying the CGD.Depending on the genetic defect inherited disease X-linked or autosomal recessive.All molecular defects cause dysfunction of the enzyme NADPH oxidase, which leads to disruption of the formation of oxygen radicals in neutrophils and intracellular killing.For patients with chronic granulomatous disease characterized by infection caused mainly catalase-producing microorganisms (staphylococci, E. coli, Salmonella, pectoris), with lesions of the lungs, skin and subcutaneous tissue, lymph nodes, liver and the formation of inflammatory granulomas and abscesses.In 10-17% of patients with marked obstruction of the urinary tract, enteritis and colitis.The big danger for patients with chronic granulomatous disease are infections caused by fungi other than the kind of Candida (eg, aspergillosis).

CGD diagnosis is confirmed by detection of decrease production of peroxide radicals in the evaluation of using the methods of luminol-dependent chemiluminescence and NBT test as well as the identification of specific mutations.

Defects in the complement system

Defects in the complement system are the most rare species of PIDS (1-3%).We describe the hereditary defects of nearly all of the complement components.The most common deficiency of the C2 component.Defects in the early fractions of the complement (C1-C4) are accompanied by a high frequency of autoimmune diseases, t. H. Systemic lupus erythematosus.Defects terminal components (C5-C9) predispose to severe infections caused by members of the genus Neisseria.Deficiency of C3 component often clinical manifestations reminiscent of humoral PIDS and accompanied by severe recurrent infections: pneumonia, meningitis, peritonitis.On the other hand, some patients with deficiency of C2, C4, C9 may have no clinical manifestations.Universal treatment of these conditions does not exist, it depends on the specific clinical manifestations.Independently of this group of diseases is innate angioedema caused by a deficiency of C1-inhibitor.

angioedema

disease is based on reducing the concentration and / or function of C1-inhibitor - virtually the only inhibitor of the complement system, and the kinin-kallikrein system.The disease is inherited in an autosomal codominant.The frequency of these manifestations of infectious patients, it may be somewhat higher, but the primary symptom is recurrent limb swelling, abdomen, face and throat.Edema can arise spontaneously as well as provoked by stress, minimal trauma, infection.The pathogenesis is the formation of edema vasoactive substances other than histamine, and therefore the treatment with antihistamines and corticosteroids in this condition is not effective.

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