Diseases of children (pediatrics)

Griscelli syndrome.

Griscelli syndrome is a congenital autosomal recessive syndrome of combined immunodeficiency and partial albinism, first described in France by Claude Griscelli. Albinism in this syndrome is caused by a disorder of melanosome migration from melanocytes (where pigment is formed) to keratocytes.

X-linked lymphoproliferative syndrome: symptoms, diagnosis, treatment

X-linked lymphoproliferative syndrome (XLP) is a rare inherited disorder characterized by an impaired immune response to the Epstein-Barr virus (EBV). 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 lymphohistiocytosis occurs in various ethnic groups and is distributed throughout the world. The incidence of primary hemophagocytic lymphohistiocytosis, according to J. Henter, is approximately 1.2 per 1,000,000 children under 15 years of age or 1 per 50,000 newborns. These figures are comparable to the prevalence of phenylketonuria or galactosemia in newborns.

DiGeorge syndrome: symptoms, diagnosis, treatment

Classic DiGeorge syndrome has been described in patients with a characteristic phenotype including cardiac and facial malformations, endocrinopathy, and thymic hypoplasia. The syndrome may also be associated with other developmental anomalies.

Chromosomal breakage syndromes

Immunodeficiency and chromosomal instability are markers of ataxia-telangiectasia (AT) and Nijmegen breakage syndrome (NBS), which together with Bloom syndrome and xeroderma pigmentosum belong to the group of syndromes with chromosomal instability. The genes whose mutations cause the development of AT and NBS are ATM (Ataxia-Teleangiectasia Mutated) and NBS1, respectively.

Ataxia-telangiectasia in children

Ataxia-telangiectasia may vary significantly in different patients. Progressive cerebellar ataxia and telangiectasia are present in all patients, and the "café au lait" pattern on the skin is common. The tendency to infections ranges from very pronounced to very moderate. The incidence of malignant neoplasms, mainly tumors of the lymphoid system, is very high.

Nijmegen chromosomal breakage syndrome.

Nijmegen breakage syndrome was first described in 1981 by Weemaes CM as a new syndrome with chromosomal instability. The disease, characterized by microcephaly, delayed physical development, specific facial skeletal abnormalities, café-au-lait spots, and multiple breaks in chromosomes 7 and 14, was diagnosed in a 10-year-old boy.

Wiskott-Aldrich syndrome.

Wiskott-Aldrich syndrome (WAS) (OMIM #301000) is an X-linked disorder characterized by microthrombocytopenia, eczema, and immunodeficiency. The incidence of the disease is approximately 1 in 250,000 male births.

Hyperimmunoglobulinemia E syndrome with recurrent infections: symptoms, diagnosis, treatment

Hyper-IgE syndrome (HIES) (0MIM 147060), previously called Job syndrome, is characterized by recurrent infections, predominantly of staphylococcal etiology, coarse facial features, skeletal abnormalities, and markedly elevated levels of immunoglobulin E. The first two patients with this syndrome were described in 1966 by 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 yet been determined.

Omen syndrome: causes, symptoms, diagnosis, treatment

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