Diseases of children (pediatrics)

Combined T and B-cell immunodeficiencies

Combined immunodeficiencies are syndromes characterized by the absence or decrease in the number and / or function of T-lymphocytes and marked violations of other components of adaptive immunity. Even with normal B cells in the peripheral blood, their function is usually suppressed, in view of the lack of help from the T cells.

Hyperimmunoglobulinemia syndrome M

Hyper-IgM syndrome (HIGM) is a group of primary immunodeficiencies characterized by a normal or elevated concentration of serum immunoglobulin M, and a marked decrease or absence of immunoglobulins of other classes (G, A, E). Hyper-IgM syndrome refers to rare immunodeficiencies, the frequency in the population does not exceed 1 case per 100,000 newborns.

Hyper-IgM syndrome associated with CD40 deficiency (HIGM3): symptoms, treatment

The autosomal recessive variant associated with CD40 deficiency (HIGM3) is a rare form of hyper-IgM syndrome (HIGM3) with an autosomal recessive type of inheritance currently described in only 4 patients from 3 unrelated families. Molecule CD40 is a member of the receptor superfamily of tumor necrosis factor, is constantly expressed on the surface of B-lymphocytes, mononuclear phagocytes, dendritic lobes and activated epithelial cells.

Autosomal recessive hyper IgM syndrome: causes, symptoms, diagnosis, treatment

Following the discovery of the molecular basis of the X-linked hyper-IgM syndrome, descriptions of male and female patients with normal expression of CD40L appeared, increased sensitivity to bacterial, but not opportunistic infections, and in some families - with autosomal recessive inheritance. In 2000, Revy ssoavt. Published the results of a study of this group of patients with hyper-IgM syndrome, who found a mutation in the gene coding for the activation-inducible cytidine deaminase (AICDA).

X-linked hyper-IgM syndrome type 1 (HIGM1)

More than 10 years ago, a gene was discovered whose mutations lead to the development of the HIGM1 form of the disease. In 1993, the results of five independent research groups were published showing that mutations in the gene of the CD40 ligand (CD40L) are a molecular defect underlying the Xt chained form of hyper-IgM syndrome. The gene encoding the gp39 (CD154) - CD40L protein is located on the long arm of the X chromosome (Xq26-27). The CD40 ligand is expressed on the surface of activated T-lymphocytes.

Transient infant hypogammaglobulinemia: symptoms, diagnosis, treatment

Transient infant hypogammaglobulinemia (TMG) is defined as a significant decrease in the level of IgG with or without deficiency of other classes of immunoglobulins in a child over 6 months, provided that other immunodeficiency conditions are excluded.

Deficiency of IgG subclasses: causes, symptoms, diagnosis, treatment

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.

Selective immunoglobulin deficiency A: symptoms, diagnosis, treatment

Among the known immunodeficiency states, the selective deficiency of immunoglobulin A (IgA) is most common in the population. In Europe, its frequency is 1 / 400-1 / 600 people, in Asian and African countries the frequency of occurrence is somewhat lower.

General Variable Immune Deficiency: Symptoms, Diagnosis, Treatment

Common Variable Immune Deficiency (CVID) is a heterogeneous group of diseases characterized by a defect in the synthesis of antibodies. The prevalence of OVIN varies from 1: 25,000 to 1: 200,000, the sex ratio is the same.

Agammaglobulinemia in children

Agammaglobulinemia in children is a typical disease that is accompanied by an isolated deficit of antibodies. This disease manifests itself in frequent repeated bacterial infections.

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