Publications by authors named "Francesco Frugoni"

15Publications

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

J Allergy Clin Immunol 2019 02 18;143(2):726-735. Epub 2018 Jun 18.

Pediatric Department A and the Immunology Service, "Edmond and Lily Safra" Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, Ramat-Gan and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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February 2019

A novel mutation in the POLE2 gene causing combined immunodeficiency.

J Allergy Clin Immunol 2016 Feb 11;137(2):635-638.e1. Epub 2015 Sep 11.

Department of Laboratory Medicine, Boston Children's Hospital, Boston, Mass; Department of Laboratory Medicine, Joint Program in Transfusion Medicine, Boston Children's Hospital, Boston, Mass; Department of Pathology, Harvard Medical School, Boston, Mass. Electronic address:

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February 2016

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

J Allergy Clin Immunol 2015 Jul 25;136(1):140-150.e7. Epub 2015 Apr 25.

Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Harvard Stem Cell Institute, Harvard University, Boston, Mass. Electronic address:

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July 2015

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis.

J Allergy Clin Immunol 2015 Jan 11;135(1):272-3. Epub 2014 Oct 11.

Division of Immunology, Boston Children's Hospital, Boston, Mass; The Manton Center For Orphan Disease Research, Boston Children's Hospital, Boston, Mass; Harvard Stem Cell Institute, Boston, Mass.

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January 2015

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

J Allergy Clin Immunol 2014 Dec 2;134(6):1375-1380. Epub 2014 Jul 2.

Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden. Electronic address:

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December 2014

RAG1 reversion mosaicism in a patient with Omenn syndrome.

J Clin Immunol 2014 Jul 10;34(5):551-4. Epub 2014 May 10.

Division of Immunology, Boston Children's Hospital, Karp Research Building, Room 10217, 1, Blackfan Circle, Boston, MA, 02115, USA.

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July 2014

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

Clin Immunol 2013 Feb 7;146(2):84-9. Epub 2012 Dec 7.

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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February 2013

Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile.

J Clin Immunol 2013 Apr 10;33(3):513-9. Epub 2012 Nov 10.

Department of Pediatrics, Faculty of Medicine, Kuwait University, 24923 Safat, 13110, Kuwait, Kuwait.

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April 2013