List Diseases – D
A condition in which the deficit of one of the IgG subclasses is determined at a normal or reduced level of total immunoglobulin G is called a selective deficiency of the IgG subclass. Often there is a combination of deficits in several subclasses.
Three phenotypes of congenital enzyme deficiency are described, caused by mutations of the gene controlling the synthesis of the enzyme complex. Published data on the localization of this gene in the chromosome 3.
Protein S is a non-enzymatic cofactor of protein C in the inactivation of factors Va and VIIIa, has its own protein-independent C anticoagulant activity. Protein S, as well as protein C, is dependent on vitamin K and synthesized in the liver.
Deficiency of myeloperoxidase is the most common congenital pathology of phagocytes, the incidence of complete hereditary myeloperoxidase deficiency is from 1: 1,400 to 1:12 000.
Deficiency of enzymes glybolysis Embden-Meyerhofa - a rare autosomal recessive metabolic disease of erythrocytes, causing hemolytic anemia.
Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is X-linked fermentopathy, is more common in people of negroid race, hemolysis can occur after acute illness or intake of oxidants (including salicylates and sulfonamides).
The most common enzyme is the deficiency of glucose-6-phosphate dehydrogenase - identified in about 300 million people; on the second place a deficiency of pyruvate kinase activity, found in several thousand patients in the population; The remaining types of enzyme defects of red blood cells are rare.
Deficiency of Cl-inhibitor (ClI) leads to the emergence of a characteristic clinical syndrome - hereditary angioedema (HAE). The main clinical manifestation of hereditary angioedema is the recurrent edema, which can threaten the life of the patient when developing in vital localizations.
Antithrombin is a protein that inhibits thrombin and factors Xa, IXa, Xla. The prevalence of heterozygous deficiency of plasma antithrombin is from 0.2 to 0.4%. Venous thromboses develop in half of heterozygotic individuals.
Antithrombin III is a natural anticoagulant that accounts for 75% of all anticoagulant plasma activity, a glycoprotein with a molecular weight of 58,200 and a plasma content of 125-150 mg / ml.
Deficiency of alpha 1-antitrypsin is a congenital deficiency of predominantly pulmonary antiproteinase alpha-1 antitrypsin, leading to increased protease destruction of tissue and emphysema in adults.
Deficiency of adhesion of leukocytes (Leukocyte Adhesion Deficiency - LAD). LAD type 1 - inheritance is autosomal recessive, the disease occurs in persons of both sexes. At the heart of the disease is a mutation of the gene that codes for the beta2 subunit of the neutrophil integrin (the central link of cellular complement-dependent interactions).
In heterozygotes, the activity of glucose-phosphate isomerase in erythrocytes is 40-60% of the norm, the disease is asymptomatic. In homozygotes, the activity of the enzyme is 14-30% of the norm, the disease proceeds in the form of hemolytic anemia. The first manifestations of the disease can be observed already in the neonatal period - marked jaundice, anemia, splenomegaly.
Depending on the etiology, all defects of the lower jaw are divided into two main groups: gunshot and non-fire. The first group of defects is characteristic mainly for wartime.
Virtually all healthy people have some deviation of the septum of the nose, which, however, does not cause them any anxiety. Pathological are only those curvatures of the septum of the nose that interfere with normal nasal breathing and entail certain diseases of the nose, paranasal sinuses and ears. Deformities of the septum are extremely diverse
Defects of the ornithine cycle enzymes are characterized by hyperammonemia under conditions of catabolism or protein loading. Primary disorders of the ornithine cycle include a deficiency of carbamoyl phosphate synthetase (CFS), deficiency of arginine succinate synthetase (citrullineemia), deficiency of arginine succinate lyase (arginine succinate aciduria) and arginine deficiency (argininemia).
Defects that lead to a violation of interferon-gamma (INF-y) and interleukin-12 (11-12) -dependent pathway are characterized by hypersensitivity to mycobacterial and some other infections (Salmonella, viruses).
Defects of the complement system are the rarest variety of primary immunodeficiency states (1-3%). Hereditary defects of almost all components of complement are described. All genes (except for the gene forperdin) are found on autosomal chromosomes. The most common deficiency is the C2 component. Defects of the complement system are different in their clinical manifestations.
Adhesion between leukocytes and endothelium, other leukocytes and bacteria is necessary to perform the basic phagocytic functions - moving to the focus of infection, communication between cells, the formation of an inflammation reaction. The main adhesion molecules include selectins and integrins. Defects of the adhesion molecules themselves or proteins involved in signal transmission from adhesion molecules lead to pronounced defects of the anti-infective response of phagocytes.
Defects and deformations of the skin of the face and neck can be congenital and acquired (as a result of injuries, operations and various diseases: leishmaniasis, lupus erythematosus, syphilis, etc.).