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Badolato R.,A Nocivelli Institute Of Molecular Medicine | Dotta L.,A Nocivelli Institute Of Molecular Medicine | Tassone L.,A Nocivelli Institute Of Molecular Medicine | Amendola G.,U.O.C. Pediatria TIN | And 6 more authors.
Journal of Pediatrics | Year: 2012

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder. We report three patients with WHIM syndrome who are affected by Tetralogy of Fallot (TOF). This observation suggests a possible increased risk of TOF in WHIM syndrome and that birth presentation of TOF and neutropenia should lead to suspect WHIM syndrome. Copyright © 2012 Mosby Inc.


Vairo D.,A Nocivelli Institute Of Molecular Medicine | Tassone L.,A Nocivelli Institute Of Molecular Medicine | Tabellini G.,University of Brescia | Tamassia N.,University of Verona | And 8 more authors.
Blood | Year: 2011

Subjects affected by Signal Transducer and Activator of Transcription 1 (STAT1) deficiency have lethal bacterial and viral infections. Complete STAT1 deficiency is inherited as an autosomal recessive disease; partial STAT1 deficiency is inherited as an autosomal recessive or autosomal dominant trait. Here, we report a patient who developed disseminated mycobacteriosis early in life and had several viral infections, including herpetic skin infection and interstitial pneumonia by cytomegalovirus with severe respiratory distress. Molecular analysis of STAT1 showed a novel homozygous mutation affecting a splice site, leading to exon 3 skipping and to synthesis of a lower molecular weight STAT1 protein. This mutation leads to marked reduction of STAT1 phosphorylation; the electromobility shift assay showed a complete defect of DNA-binding activity, which accounts for the complete impairment of peripheral blood mononuclear cell functional response to both IFN-γ and IFN-α. Moreover, analysis of natural killer cells showed a defective STAT1 phosphorylation in response to IFN-α and impaired basal cytolytic activity, suggesting that the STAT1-dependent pathway might be important for natural killer cell function. These results suggested that exon 3 skipping of STAT1 leads to abnormal signaling in response to IFN-γ and IFN-α, which is associated with susceptibility to intracellular pathogens and viruses. © 2011 by The American Society of Hematology.

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