Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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NF-kB

2 articoli — 2017-2025

EL Casi indimenticabili
Quando la pelle racconta: dalle vescicole al gene NEMO

Marrazzo M.

2025/2 — pag. 43-44 — DOI

The paper presents the case of a 7-day-old newborn, born at term, with widespread cutaneous lesions on their limbs and trunk, sparing their face, palms and soles. The lesions, initially vesicular, evolved into crusts and hyperkeratosis, following Bla...

RI Problemi speciali
Difetti immunitari non convenzionali in pazienti con infezione grave

A. Marzollo, J. Bustamante, M.C. Putti, M. Stronati, M. Bendavid, J-L. Casanova, G. Basso, A. Borghesi

2017/8 — pag. 503-510

Severe infectious disease in an otherwise healthy child is often perceived as a sporadic event with no genetic cause. Recent data challenge this assumption showing that a mutation in genes involved in host defence can be found in a significant prop...

Argomenti correlati
Infant, Newborn (267) Mutation (63) Genetic Predisposition to Disease (26) Immunity, Innate (25) Genes, X-Linked (14) Skin Diseases, Genetic (14) Innate immunity (11) Primary Immunodeficiency Diseases (9) Keratosis (9) Blaschko lines (9) linee di Blaschko (9) epidermolysis bullosa (8) Immunità innata (8) Inborn errors of immunity (7) Interferon-gamma (7) incontinentia pigmenti (6) epidermolisi bollosa (6) Interferon gamma (5) Candidiasis, Chronic Mucocutaneous (4) Interferone gamma (4)