Via S.Pansini, 5
Pediatrics, Immunology, Primary Immunodeficiencies
- FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.
- Risk factors predisposing to the development of hypogammaglobulinemia and infections post-Rituximab.
- DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.
- Unbalanced Immune System: Immunodeficiencies and Autoimmunity.
- Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
- Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.
- Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.
- Severe combined immunodeficiency-an update.
- Novel STAT1 gain-of-function mutation and suppurative infections.
- B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.
- Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects.
- Insight into IKBKG/NEMO locus: Report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.