De Rose DUmberto, Giliani S, Notarangelo LDora, Lougaris V, Lanfranchi A, Moratto D, Martire B, Specchia F, Tommasini A, Plebani A, Badolato R. Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications. Clin Immunol 2018;191:75-80.

Lougaris V, Faletra F, Lanzi G, Vozzi D, Marcuzzi A, Valencic E, Piscianz E, Bianco AM, Girardelli M, Baronio M, Loganes C, Fasth A, Salvini F, Trizzino A, Moratto D, Facchetti F, Giliani S, Plebani A, Tommasini A. Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. Clin Immunol 2015;159(1):33-6.

Cancrini C, Puliafito P, Digilio MCristina, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EMaria, Cardinale F, Finocchi A, Romiti MLuisa, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MCristina, Marino B, Ugazio AGiovanni, Plebani A, Rossi P. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.

Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SSebnem, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin Immunol 2011;139(1):6-11.