Giuliana Giardino

Publications:

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