Wiskott-Aldrich syndrome

Diagnosi e gestione precoce del neonato con familiarità per disordine congenito dell'immunità

Laudante U, Falco G, Ferrandino C, Romano AC, Turchetti F, Romano R, Giardino G

2026/1 — pag. 23-23 — DOI

This study examines the role of early diagnosis in managing inborn errors of immunity, which are often characterised by early onset and high mortality. By analysing data from 15 patients with a positive family history, the research evaluated the util...

Una strana pancitopenia: dalla gestione in urgenza alla diagnosi genetica

Di Filippo M, Rossoni L, Nebiolo M, Fioredda F, Carrato V, Pirlo D

2024/10 — pag. 201-206 — DOI

Wiskott-Aldrich syndrome (WAS) is a rare X-linked genetic disorder caused by a mutation in the WAS gene that codes for the WASp protein, which is involved in the functioning of the cytoskeleton of non-erythroid haematopoietic cells. This mutation lea...

Una MIS-C come possibile spia di errori congeniti dell’immunità

Drago E, Massaccesi E, Ridella F, Scalas M, Caorsi R, Fioredda F

2023/3 — pag. 52-52 — DOI

The Authors described the case of a 2-year-old child presenting with the typical clinical features of MIS-C finally diagnosed as Wiskott-Aldrich immunodeficiency....

MAS in WAS? (una Wiskott-Aldrich non convenzionale)

S. Amoroso

2016/10

Nascere con una severa piastrinopenia

L. Mambelli, C. Muratori, G. Piccinini, S. Dal Bo, F. Marchetti

2016/5

Piastrinopenia isolata x-linked da mutazione missense del gene WASP: descrizione di un caso

C Locatelli, C Malaventura, R Ciambra, M Pocecco, L. D Notarangelo, L. D Notarangelo

2004/7

PIastrinopenia isolata x-linked da mutazione missense del gene Wasp: descrizione di un caso

C Locatelli, C Malaventura, R Ciambra, M Pocecco, L. D Notarangelo, L. D Notarangelo

2004/7

Piastrinopenia isolata X-linked da mutazione del gene WASP

2004/7 — pag. 450-450

Wiskott-Aldrich (WAS) and X-linked thrombocytopenia (XLT) are two disorders caused by different mutations of the gene WASP. WAS is characterized by recurrent infections, eczema, thrombocytopenia with low mean platet volume (MPV) and increased sus...

Sette lattanti rossi: dalla dermatite atopica ai difetti congeniti dell’immunità

E. Zamuner, A. Tommasini

2003/8 — pag. 512-516

Seven infants with severe dermatitis, diarrhoea and/or infections are described. A primary immunodeficiency (PID) was considered among the diagnostic hypotheses in all cases. Thrombocytopenia, hypereosinophilia, lymphopenia and Ig deficiencies were...

Che cosa deve sapere il pediatra delle malattie rare

A. Ventura, A. Gagliardo, I. Berti, F. Marchetti

2003/5 — pag. 292

Rare diseases constitute a highly eterogeneous category of (mainly genetic) disorders. Even if the individual diseases are rare, due to their global incidence, rare diseases represent both an important cause of morbidity and mortality and a challen...