AGAMMAGLOBULINEMIA (agammaglobulinaemia; grech, a negative prefix and - + gamma-globulins and grech, haima — blood; a synonym a syndrome of deficit of antibodies) — hereditarily caused; linked to X-chromosome, the defect (absence or falloff) of biosynthesis of immunoglobulins which is followed by weakening of humoral and cellular mechanisms of specific protection. It is for the first time described by Bruton (O. S. Bruton) in 1952. It is observed seldom — 1:1 000 000. At And. content of immunoglobulins in blood serum is less than 200 mg of %; concentration less than 400 mg of % call gipogammaglobulinemny [Rosen and Dzheynuey (F. S. Rosen, A. Janeway), 1968]. The inborn and acquired forms A. treat dysgammaglobulinemias (see). And. meets as the isolated form (Bruton's disease) and in a combination anomalies of specific cellular immunity (Goode's syndrome and the Swiss type A.).
At And. the organism loses ability to react antibody formation to many bacterial An of a tigena (staphylococcus, a streptococcus, meningokokk, etc.), and also to a diphtherial anatoxin, an antityphoid vaccine. Development and group isohemagglutinins an alpha and a beta is broken that can be considered at A. Predpolagayetsya's diagnosis the increased antigammaglobulinovy activity at And., a pas that specifies reduction of life expectancy of the marked gamma-globulin entered into an organism. Heavy reaction up to development of a necrosis in response to introduction of a bovine vaccine can be observed and be absent posttransfusion reaction to mistakenly transfused blood incompatible on group.
Clinical picture. At the birth of the child the disease clinically is not shown. Content of immunoglobulins usually normal at the expense of passively received transplatsentarno maternal However absence of IgM and IgA at the child at the age of one month can cause at this time suspicion on existence And. when there is an adverse family anamnesis (the sudden death of brothers or sisters of the patient in the first months after the birth).
Hypersensitivity to an infection comes to light about 3 — 5-mesyach-nogo age that is clinically shown by a resistant pyoderma, sepsis which badly give in to antibacterial therapy and are inclined to progressing. Further septic process extends to lungs (heavy pneumonia with abscessing, bronchiectasias), a middle ear (chronic purulent average otitis, antrit), went. - kish. path (recurrent ulcer coloenteritis). Also meningitis, a pansinusitis, osteomyelitis are possible.
The sprupodobny syndrome is frequent. The usual course of tuberculosis and viral infections is noted (measles, poliomyelitis, epidemic parotitis, chicken pox) that indicates communication of humoral immunity to these diseases with other protein fractions, with compensatory influence of system of properdin, edge at patients And. functions normally.
The combined forms A., unlike isolated, are characterized by smaller resistance to viral infections, systems are followed by a hypoplasia of all elements limf.
Laboratory diagnosis shall include an electrophoretic research of a range of proteins and concentration of immunoglobulins of blood serum at the isolated forms of a disease. Absence of gamma fractions, partial reduction of beta fractions or lack of all a class of owls of immunoglobulins comes to light (G, M, A, D, E).
The combined forms A. can be suspected by comparison of the obtained data of an electrophoretic research of blood serum and blood test, in a cut deficit of lymphocytes is found. Punctate limf. nodes, marrow and spleen does not contain plasmocytes. Reaction to S-reactive protein positive, the level of mukoproteid, fibrinogen and a caption of antistreptolysin is increased.
And. like Bruton it is necessary to differentiate with dysgammaglobulinemias at which there is a defect in synthesis of one or several classes of immunoglobulins.
Treatment — administration of drugs of gamma-globulin or polyglobulin. Recommend to enter on 0,6 — 1,0 ml of gamma-globulin on 1 kg of weight of the child before achievement of concentration of IgG higher than 200 mg of %, and then weekly 0,6 ml/kg (Rosen and Dzheynuey, 1968).
The combined forms A. it is offered to korrigirovat changes of a neonatal thymus gland or marrow.
Forecast in the absence of treatment adverse — patients perish (quite often suddenly) at chest or early children's age.
Bibliography: Badalyan L. O., Tabolinv. And. and Veltishchev Yu. K. Hereditary diseases at children, page 189, M., 1971; Genetics of an immune response, the lane with English, it is gray. tekhn. dokl. WHO, No. 402, page 34, Geneva, 1970; Bruton O. C. Agammaglobulinemia, Pediatrics, v. 9, p. 722, 1952; Rosen F. S. a. Janewaу of Page A. Diagnosis and treatment of antibody dificiency syndromes, Postgrad. Med., v. 43, No. 5, p. 188, 1968.
V. A. Tabolin.