Francesco Saettini
0000-0003-0767-3905
27 papers found
Refreshing results…
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients
Primary Immunodeficiencies, Autoimmune Hyperthyroidism, Coeliac Disease, and Systemic Lupus Erythematosus in Childhood Immune Thrombocytopenia
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2
More than an ‘atypical’ phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome
Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature
Clinical features of Epstein-Barr virus infection in primary immunodeficiency patients,Manifestazioni dell'infezione da virus di Epstein-Barr nel paziente con immunodeficit
The challenge of pain assessment in children with cognitive disabilities: Features and clinical applicability of different observational tools
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency
Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome
Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen
Paediatricians should encourage the parents of children with special healthcare needs to disclose their use of complementary and alternative medicine
Pharmacology and psychiatry at the origins of Greek medicine: The myth of Melampus and the madness of the Proetides
Acupuncture for the treatment of pediatric nocturnal enuresis: A systematic review and a meta-analysis of randomized and non-randomized studies
Complementary and alternative medicine (CAM) for children with special health care needs: A comparative usage study in Italy
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype:
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