Diseases of children (pediatrics)

Syndrome Griselli (Griscelli syndrome)

Gricelli's syndrome is a congenital autosomal recessive syndrome, which is a combination of immunodeficiency and partial albinism, first described in France by Claude Griscelli. Albinism in this syndrome is caused by a violation of migration of melanosomes from melanocytes (in which a pigment is formed) into keratocytes.

X-linked lymphoproliferative syndrome: symptoms, diagnosis, treatment

X-Linked Lymphoproliferative Syndrome (XLP) is a rare hereditary disease characterized by a violation of the immune response to the Epstein-Barr virus-EBV virus. XLP was first identified in 1969 by David T. Purtilo et al., Who observed a family in which boys died from infectious mononucleosis.

Hemophagocytic lymphohistiocytosis

Primary (familial and sporadic) hemophagocytic lymphogystyocytosis occurs in various ethnic groups and is spread throughout the world. The incidence of primary hemophagocytic lymphogystyocytosis, according to J.Henter, is approximately 1.2 per 1,000,000 children under 15 years old or 1 per 50,000 newborns. These indicators are comparable with the prevalence in newborns of phenylketonuria or galactosemia.

DiGeorge syndrome: symptoms, diagnosis, treatment

Classic DiGeorge syndrome has been described in patients with a characteristic phenotype, including heart defects, facial skeleton, endocrinopathy and thymic hypoplasia. The syndrome can also be accompanied by other developmental anomalies.

Syndromes of chromosomal breakages

Immunodeficiency and chromosomal instability are markers of ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS), which together with Bloom's syndrome, the pigmentary xeroderma is included in the group of syndromes with chromosomal instability. Genes whose mutations cause the development of AT and NBS are ATM (Ataxia-Teleangiectasia Mutated) and NBSl, respectively.

Ataxia-telangiectasia in children

Ataxia-telangiectasia can differ significantly in different patients. Progressive cerebellar ataxia and telangiectasias are present in acex, often there is a "coffee with milk" on the skin. Inclination to infections varies from very pronounced to very mild. Very high incidence of malignant tumors, mainly tumors of the lymphoid system.

Syndrome of chromosomal breakages of Nijmegen

The Nijmegen breakage syndrome was first described in 1981. Weemaes CM as a new syndrome with chromosomal instability. The disease manifested by microcephaly, lagging behind the physical development, specific disorders of the facial skeleton, skin spots of the color "coffee with milk" and multiple breakdowns of 7 and 14 chromosomes was revealed in a 10-year-old boy.

Wiskott-Aldrich Syndrome

Wiscott-Aldrich syndrome (WAS) (OMIM # 301000) is an X-linked disease, the main manifestations of which are microthrombocytopenia, eczema and immunodeficiency. The incidence of the disease is approximately 1 in 250,000 newborn boys.

Syndrome of hyperimmunoglobulinemia E with recurrent infections: symptoms, diagnosis, treatment

Hyper-IgE syndrome (HIES) (0MIM 147060), formerly called Job syndrome, is characterized by recurrent infections, mainly of staphylococcal etiology, gross facial features, skeletal anomalies and a sharply elevated level of immunoglobulin E. The first two patients with a similar syndrome are described in 1966, Davis and colleagues. Since then, more than 50 cases with a similar clinical picture have been described, but the pathogenesis of the disease has not been determined to date.

Omen Syndrome: Causes, Symptoms, Diagnosis, Treatment

Omen syndrome is a disease characterized by early (first weeks of life) beginning in the form of exudative rash, alopecia, hepatosplenomegaly, generalized lymphadenopathy, diarrhea, hypereosinophilia, heperimmunoglobulinemia E and increased susceptibility to infections characteristic of combined immunodeficiencies.

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