A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

(2016) Hamoud Al-Mousa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing

(2016) Hui Yu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions

(2016) Mingyan Fang et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Severe combined immunodeficiency: recent developments and guidance on clinical management

(2015) Lizzy Rivers et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Practice parameter for the diagnosis and management of primary immunodeficiency

(2015) Francisco A. Bonilla et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

(2015) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Severe combined immunodeficiencies and related disorders

(2015) Alain Fischer et al.   Nature Reviews Disease Primers

Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

(2014) Nikita Raje et al.   CURRENT ALLERGY AND ASTHMA REPORTS

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

(2014) Capucine Picard et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Diagnostics of Primary Immunodeficiency Diseases: A Sequencing Capture Approach

(2014) Lotte N. Moens et al.   PLoS One

Functional T Cell Immunodeficiencies (with T Cells Present)

(2013) Luigi D. Notarangelo   Annual Review of Immunology

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects

(2011) Noriko Nakagawa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Gene therapy for primary immunodeficiencies: Looking ahead, toward gene correction

(2011) Itai M. Pessach et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

PID Comes Full Circle: Applications of V(D)J Recombination Excision Circles in Research, Diagnostics and Newborn Screening of Primary Immunodeficiency Disorders

(2011) Menno C. van Zelm et al.   Frontiers in Immunology

High-Throughput Multiplexed T-Cell-Receptor Excision Circle Quantitative PCR Assay with Internal Controls for Detection of Severe Combined Immunodeficiency in Population-Based Newborn Screening

(2010) J. L. Gerstel-Thompson et al.   CLINICAL CHEMISTRY

Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation

(2010) Alessandra Sottini et al.   CLINICAL IMMUNOLOGY

Primary immunodeficiencies: 2009 update

(2009) Luigi D. Notarangelo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiencies

(2009) Luigi D. Notarangelo   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards

(2009) Yoichi Morinishi et al.   JOURNAL OF PEDIATRICS

The proline-rich sequence of CD3ε controls T cell antigen receptor expression on and signaling potency in preselection CD4+CD8+ thymocytes

(2008) Michaël Mingueneau et al.   NATURE IMMUNOLOGY