Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MA, Fasshauer M, Baumann U, Hoyer BF, Farela Neves J, Borte M, Carrabba M, Hauck F, Ehl S, Bader P, von Bernuth H, Atschekzei F, Seppänen MRJ, Warnatz K, Nieters A, Kindle G, Grimbacher B. Patient registries are a very important

Fenaroli P, Rossi GM, Angelotti ML, Antonelli G, Volpi S, Grossi A, Delsante M, Lodi L, Landini S, Romagnani P, Vaglio A. Aicardi-Goutières syndrome (AGS) is a well-characterized monogenic type I interferonopathy presenting with prominent neurologic manifestations. Among extraneurologic features, renal involvement has been described in only 1 patient with an IFIH1 mutation in whom membranous nephropathy developed. The pathogenic

Lodi L, Faletti LE, Maccari ME, Consonni F, Groß M, Pagnini I, Ricci S, Heeg M, Simonini G, Azzari C, Ehl S. Background: Germline mutations of signal transducer and activator of transcription 3 (STAT3) are responsible for 2 distinct human diseases: autosomal-dominant hyper-IgE syndrome (AD-HIES) caused by STAT3 loss-of-function mutations and STAT3 gain-of-function disease. So far, these entities have been

Lodi L, Melki I, Bondet V, Seabra L, Rice GI, Carter E, Lepelley A, Martin-Niclós MJ, Al Adba B, Bader-Meunier B, Barth M, Blauwblomme T, Bodemer C, Boespflug-Tanguy O, Dale RC, Desguerre I, Ducrocq C, Dulieu F, Dumaine C, Ellul P, Hadchouel A, Hentgen V, Hié M, Hully M, Jeziorski E, Lévy R, Mochel F, Orcesi S, Passemard S, Pouletty

Scarpa R, Cinetto F, Milito C, Gianese S, Soccodato V, Buso H, Garzi G, Carrabba M, Messina E, Panebianco V, Catalano C, Morana G, Lougaris V, Landini N, Bondioni MP. Purpose: To investigate computed tomography (CT) findings of Granulomatous Lymphocytic Interstitial Lung Disease (GL-ILD) in Common Variable Immunodeficiency (CVID), also in comparison with non-GL-ILD abnormalities, correlating GL-ILD features with functional/immunological

Sarli WM, Ricci S, Lodi L, Cavone F, Pacillo L, Giancotta C, Ubertini G, Baroncelli G, Cancrini C, Azzari C, Stagi S. Introduction: The chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms, hypocalcemia, palatal dysfunction, developmental or neuropsychiatric disorders, and