RESUMEN
The Hyper IgE Syndromes are rare primary immunodeficiencies characterized by eczema, recurrent skin and respiratory infections and elevated serum IgE levels. Nowadays a geneticmolecular characterization is possible and allows the distinction in various monogenic pathologies, which share some clinical characteristics but also important differences. In addition to long-known STAT3 and DOCK8 gene mutations, in fact, also ZNF341, CARD11, ERBB2IP, IL6R and IL6ST genes mutations can cause the disease. The main clinical manifestations are represented by newborn rash, eczema similar to atopic dermatitis, bacterial and viral skin infections, cold abscesses, respiratory infections with possible pulmonary complications, allergies, gastrointestinal manifestations, malignancies and connective tissue abnormalities. Diagnosis is still a challenge because, especially in the early stages of life, it is difficult to distinguish from other pathologies characterized by eczema and high IgE, such as atopic dermatitis. Several scores and diagnostic pathways have been developed, but it is essential to seek a genetic diagnosis. Treatment is based on prevention and early treatment of infections, meticulous skincare, intravenous immunoglobulins and HSCT, which, in some HIES subtypes, can modify the prognosis. Prognosis is related to the affected gene, but also to early diagnosis, timely treatment of infections and early HSCT.
Asunto(s)
Dermatitis Atópica , Eccema , Síndrome de Job , Infecciones del Sistema Respiratorio , Recién Nacido , Humanos , Síndrome de Job/diagnóstico , Síndrome de Job/genética , Síndrome de Job/terapia , Dermatitis Atópica/diagnóstico , Mutación , Inmunoglobulina E , Infecciones del Sistema Respiratorio/complicaciones , Factores de Intercambio de Guanina Nucleótido/genéticaRESUMEN
Human milk oligosaccharides (HMOs) act as prebiotics in the infant's gut and contribute to the relationship among the host and the gut microbiota. HMO are greatly present in the human milk and their benefit may include: reinforcement of the immune system with a better immune response to infective agents, improved resistance to infections of the gut, immunomodulation against food allergies, asthma, and atopic dermatitis and finally decreased the risk of chronic diseases. In this narrative review will discuss evidence present in literature regarding HMOs in human milk and their supplementation in infant formula.