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Matilde Immacolata Conte on Muck Rack

Matilde Immacolata Conte

As seen in: Pediatrics, The Journal of Allergy & Clinical Immunology
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Articles

Partial loss of function mutations in GINS4 lead to natural killer cell deficiency with neutropenia

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By Matilde Immacolata Conte, Angelo Taglialatela, Giuseppe Leuzzi, Ivan K. Chinn
| The Journal of Allergy & Clinical Immunology Verified
Angelo Taglialatela 1 Author Footnotes 1 Columbia University Irving Medical Center, New York, New York, USA Giuseppe Leuzzi 1 Author Footnotes 1 Columbia University Irving Medical Center, New York, New York, USA Ivan Chinn 2 Author Footnotes 2 Baylor College of Medicine Sandra Salinas 1 Author Footnotes 1 Columbia University Irving Medical Center, New York, New York, USA Cecilia Poli 3 Author Footnotes 3 Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago, Chile Liz...
Open in Who Shared Issue with article?

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males

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By Francesca Fusco, Matilde Immacolata Conte, Andrea Diociauti, Stefania Bigoni
| Pediatrics Verified
Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of ? polypeptide gene enchancer in B cells, kinase ? (IKBKG)/ nuclear factor ?B, essential modulator (NEMO) gene. Hemizygous IKBKG/NEMO loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter.
Open in Who Shared Issue with article?

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males

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By Francesca Fusco, Matilde Immacolata Conte, Andrea Diociauti, Stefania Bigoni
| Pediatrics Verified
Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of ? polypeptide gene enchancer in B cells, kinase ? (IKBKG)/ nuclear factor ?B, essential modulator (NEMO) gene. Hemizygous IKBKG/NEMO loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter.
Open in Who Shared Issue with article?
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