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Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.
Published in:
European Journal of Immunology, 2022, v. 52, n. 7, p. 1171, doi. 10.1002/eji.202149480
By:
- Milardi, Giulia;
- Di Lorenzo, Biagio;
- Gerosa, Jolanda;
- Barzaghi, Federica;
- Di Matteo, Gigliola;
- Omrani, Maryam;
- Jofra, Tatiana;
- Merelli, Ivan;
- Barcella, Matteo;
- Filippini, Matteo;
- Conti, Anastasia;
- Ferrua, Francesca;
- Pozzo Giuffrida, Francesco;
- Dionisio, Francesca;
- Rovere‐Querini, Patrizia;
- Marktel, Sarah;
- Assanelli, Andrea;
- Piemontese, Simona;
- Brigida, Immacolata;
- Zoccolillo, Matteo
Publication type:
Article
Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 818, doi. 10.3390/jcm9030818
By:
- Gallo, Vera;
- Cirillo, Emilia;
- Prencipe, Rosaria;
- Lepore, Alessio;
- Del Vecchio, Luigi;
- Scalia, Giulia;
- Martinelli, Vincenzo;
- Di Matteo, Gigliola;
- Saunders, Carol;
- Durandy, Anne;
- Moschese, Viviana;
- Leonardi, Antonio;
- Giardino, Giuliana;
- Pignata, Claudio
Publication type:
Article
Case Report: Altered NK Cell Compartment and Reduced CXCR4 Chemotactic Response of B Lymphocytes in an Immunodeficient Patient With HPV-Related Disease.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.799564
By:
- Doria, Margherita;
- Moscato, Giusella M. F.;
- Di Cesare, Silvia;
- Di Matteo, Gigliola;
- Sgrulletti, Mayla;
- Bachelerie, Françoise;
- Marin-Esteban, Viviana;
- Moschese, Viviana
Publication type:
Article
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.
Published in:
2019
By:
- Moschese, Viviana;
- Chini, Loredana;
- Graziani, Simona;
- Sgrulletti, Mayla;
- Gallo, Vera;
- Di Matteo, Gigliola;
- Ferrari, Simona;
- Di Cesare, Silvia;
- Cirillo, Emilia;
- Pession, Andrea;
- Pignata, Claudio;
- Specchia, Fernando
Publication type:
journal article
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia.
Published in:
Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00130
By:
- Chiriaco, Maria;
- Di Matteo, Gigliola;
- Conti, Francesca;
- Petricone, Davide;
- De Luca, Maia;
- Di Cesare, Silvia;
- Cifaldi, Cristina;
- De Vito, Rita;
- Zoccolillo, Matteo;
- Serafinelli, Jessica;
- Poerio, Noemi;
- Fraziano, Maurizio;
- Brigida, Immacolata;
- Cardinale, Fabio;
- Rossi, Paolo;
- Aiuti, Alessandro;
- Cancrini, Caterina;
- Finocchi, Andrea
Publication type:
Article
Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells.
Published in:
Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01893
By:
- Cifaldi, Cristina;
- Chiriaco, Maria;
- Di Matteo, Gigliola;
- Di Cesare, Silvia;
- Alessia, Scarselli;
- De Angelis, Paola;
- Rea, Francesca;
- Angelino, Giulia;
- Pastore, Maria;
- Ferradini, Valentina;
- Pagliara, Daria;
- Cancrini, Caterina;
- Rossi, Paolo;
- Bertaina, Alice;
- Finocchi, Andrea
Publication type:
Article
Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Published in:
2017
By:
- Dobbs, Kerry;
- Tabellini, Giovanna;
- Calzoni, Enrica;
- Patrizi, Ornella;
- Martinez, Paula;
- Giliani, Silvia Clara;
- Moratto, Daniele;
- Al-Herz, Waleed;
- Cancrini, Caterina;
- Cowan, Morton;
- Bleesing, Jacob;
- Booth, Claire;
- Buchbinder, David;
- Burns, Siobhan O.;
- Chatila, Talal A.;
- Chou, Janet;
- Daza-Cajigal, Vanessa;
- de Bruin, Lisa M. Ott;
- de la Morena, Maite Teresa;
- Di Matteo, Gigliola
Publication type:
Correction Notice
IPINeT Ped-unPAD Study: Goals, Design, and Preliminary Results.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 15, p. 4321, doi. 10.3390/jcm13154321
By:
- Sgrulletti, Mayla;
- Baselli, Lucia Augusta;
- Castagnoli, Riccardo;
- Del Duca, Elisabetta;
- Graziani, Simona;
- Moscato, Giusella Maria Francesca;
- Di Cesare, Silvia;
- Di Matteo, Gigliola;
- Cifaldi, Cristina;
- Rossano, Martina;
- Ballerini, Claudia;
- Piciocchi, Alfonso;
- Licari, Amelia;
- Marseglia, Gian Luigi;
- Consolini, Rita;
- Moschese, Viviana
Publication type:
Article
The Evolutionary Scenario of Pediatric Unclassified Primary Antibody Deficiency to Adulthood.
Published in:
Journal of Clinical Medicine, 2023, v. 12, n. 13, p. 4206, doi. 10.3390/jcm12134206
By:
- Sgrulletti, Mayla;
- Costagliola, Giorgio;
- Giardino, Giuliana;
- Graziani, Simona;
- Del Duca, Elisabetta;
- Di Cesare, Silvia;
- Di Matteo, Gigliola;
- Consolini, Rita;
- Pignata, Claudio;
- Moschese, Viviana
Publication type:
Article
Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment.
Published in:
Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02471
By:
- Zangari, Paola;
- Cifaldi, Cristina;
- Di Cesare, Silvia;
- Di Matteo, Gigliola;
- Chiriaco, Maria;
- Amodio, Donato;
- Cotugno, Nicola;
- De Luca, Maia;
- Surace, Cecilia;
- Ladogana, Saverio;
- Gardini, Simone;
- Merli, Pietro;
- Algeri, Mattia;
- Rossi, Paolo;
- Palma, Paolo;
- Cancrini, Caterina;
- Finocchi, Andrea
Publication type:
Article
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.
Published in:
Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01908
By:
- Cirillo, Emilia;
- Cancrini, Caterina;
- Azzari, Chiara;
- Martino, Silvana;
- Martire, Baldassarre;
- Pession, Andrea;
- Tommasini, Alberto;
- Naviglio, Samuele;
- Finocchi, Andrea;
- Consolini, Rita;
- Pierani, Paolo;
- D'Alba, Irene;
- Putti, Maria Caterina;
- Marzollo, Antonio;
- Giardino, Giuliana;
- Prencipe, Rosaria;
- Esposito, Federica;
- Grasso, Fiorentino;
- Scarselli, Alessia;
- Di Matteo, Gigliola
Publication type:
Article
Dual-regulated Lentiviral Vector for Gene Therapy of X-linked Chronic Granulomatosis.
Published in:
Molecular Therapy, 2014, v. 22, n. 8, p. 1472, doi. 10.1038/mt.2014.87
By:
- Chiriaco, Maria;
- Farinelli, Giada;
- Capo, Valentina;
- Zonari, Erika;
- Scaramuzza, Samantha;
- Di Matteo, Gigliola;
- Sergi, Lucia Sergi;
- Migliavacca, Maddalena;
- Hernandez, Raisa Jofra;
- Bombelli, Ferdinando;
- Giorda, Ezio;
- Kajaste-Rudnitski, Anna;
- Trono, Didier;
- Grez, Manuel;
- Rossi, Paolo;
- Finocchi, Andrea;
- Naldini, Luigi;
- Gentner, Bernhard;
- Aiuti, Alessandro
Publication type:
Article
Humoral and Cellular Response Following Vaccination With the BNT162b2 mRNA COVID-19 Vaccine in Patients Affected by Primary Immunodeficiencies.
Published in:
Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.727850
By:
- Amodio, Donato;
- Ruggiero, Alessandra;
- Sgrulletti, Mayla;
- Pighi, Chiara;
- Cotugno, Nicola;
- Medri, Chiara;
- Morrocchi, Elena;
- Colagrossi, Luna;
- Russo, Cristina;
- Zaffina, Salvatore;
- Di Matteo, Gigliola;
- Cifaldi, Cristina;
- Di Cesare, Silvia;
- Rivalta, Beatrice;
- Pacillo, Lucia;
- Santilli, Veronica;
- Giancotta, Carmela;
- Manno, Emma Concetta;
- Ciofi Degli Atti, Marta;
- Raponi, Massimiliano
Publication type:
Article
Cryptococcal Meningitis and Post-Infectious Inflammatory Response Syndrome in a Patient With X-Linked Hyper IgM Syndrome: A Case Report and Review of the Literature.
Published in:
Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.708837
By:
- Romani, Lorenza;
- Williamson, Peter Richard;
- Di Cesare, Silvia;
- Di Matteo, Gigliola;
- De Luca, Maia;
- Carsetti, Rita;
- Figà-Talamanca, Lorenzo;
- Cancrini, Caterina;
- Rossi, Paolo;
- Finocchi, Andrea
Publication type:
Article
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 2, p. 299, doi. 10.1007/s10875-021-01159-4
By:
- Marzollo, Antonio;
- Conti, Francesca;
- Rossini, Linda;
- Rivalta, Beatrice;
- Leonardi, Lucia;
- Tretti, Caterina;
- Tosato, Francesca;
- Chiriaco, Maria;
- Ursu, Giorgiana Madalina;
- Natalucci, Cristina Tea;
- Martella, Maddalena;
- Borghesi, Alessandro;
- Mancini, Cecilia;
- Ciolfi, Andrea;
- di Matteo, Gigliola;
- Tartaglia, Marco;
- Cancrini, Caterina;
- Dotta, Andrea;
- Biffi, Alessandra;
- Finocchi, Andrea
Publication type:
Article
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 1, p. 130, doi. 10.1007/s10875-021-01130-3
By:
- Cifaldi, Cristina;
- Rivalta, Beatrice;
- Amodio, Donato;
- Mattia, Algeri;
- Pacillo, Lucia;
- Di Cesare, Silvia;
- Chiriaco, Maria;
- Ursu, Giorgiana Madalina;
- Cotugno, Nicola;
- Giancotta, Carmela;
- Manno, Emma C.;
- Santilli, Veronica;
- Zangari, Paola;
- Federica, Galaverna;
- Palumbo, Giuseppe;
- Merli, Pietro;
- Palma, Paolo;
- Rossi, Paolo;
- Di Matteo, Gigliola;
- Locatelli, Franco
Publication type:
Article
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Published in:
Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 610, doi. 10.1007/s10875-020-00777-8
By:
- Pajno, Roberta;
- Pacillo, Lucia;
- Recupero, Salvatore;
- Cicalese, Maria P.;
- Ferrua, Francesca;
- Barzaghi, Federica;
- Ricci, Silvia;
- Marzollo, Antonio;
- Pecorelli, Silvia;
- Azzari, Chiara;
- Finocchi, Andrea;
- Cancrini, Caterina;
- Di Matteo, Gigliola;
- Russo, Gianni;
- Alfano, Massimo;
- Lesma, Arianna;
- Salonia, Andrea;
- Adams, Stuart;
- Booth, Claire;
- Aiuti, Alessandro
Publication type:
Article
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.
Published in:
2017
By:
- Brigida, Immacolata;
- Chiriaco, Maria;
- Di Cesare, Silvia;
- Cittaro, Davide;
- Di Matteo, Gigliola;
- Giannelli, Stefania;
- Lazarevic, Dejan;
- Zoccolillo, Matteo;
- Stupka, Elia;
- Jenkner, Alessandro;
- Francalanci, Paola;
- Livadiotti, Susanna;
- Morawski, Aaron;
- Ravell, Juan;
- Lenardo, Michael;
- Cancrini, Caterina;
- Aiuti, Alessandro;
- Finocchi, Andrea
Publication type:
Letter
Pancytopenia and severe sepsis in an adult case of congenital X-linked agammaglobulinemia (XLA).
Published in:
2010
By:
- Tendas, Andrea;
- Niscola, Pasquale;
- Dentamaro, Teresa;
- Cupelli, Luca;
- Matteo, Gigliola Di;
- Finocchi, Andrea;
- Siniscalchi, Agostina;
- Fratoni, Stefano;
- Scimò, Teresa;
- Scaramucci, Laura;
- Giovannini, Marco;
- Ales, Micaela;
- Pio Perrotti, Alessio;
- de Fabritiis, Paolo
Publication type:
Letter
Immunological Aspects of X-Linked Chronic Granulomatous Disease Female Carriers.
Published in:
Antioxidants, 2021, v. 10, n. 6, p. 891, doi. 10.3390/antiox10060891
By:
- Chiriaco, Maria;
- Salfa, Irene;
- Ursu, Giorgiana Madalina;
- Cifaldi, Cristina;
- Di Cesare, Silvia;
- Rossi, Paolo;
- Di Matteo, Gigliola;
- Finocchi, Andrea
Publication type:
Article
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long‐known gene.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 713, doi. 10.1002/mgg3.391
By:
- Di Matteo, Gigliola;
- Chiriaco, Maria;
- Scarselli, Alessia;
- Cifaldi, Cristina;
- Livadiotti, Susanna;
- Di Cesare, Silvia;
- Ferradini, Valentina;
- Aiuti, Alessandro;
- Rossi, Paolo;
- Finocchi, Andrea;
- Cancrini, Caterina
Publication type:
Article
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content
Published in:
Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00798
By:
- Dobbs, Kerry;
- Tabellini, Giovanna;
- Calzoni, Enrica;
- Patrizi, Ornella;
- Martinez, Paula;
- Giliani, Silvia Clara;
- Moratto, Daniele;
- Al-Herz, Waleed;
- Cancrini, Caterina;
- Cowan, Morton;
- Bleesing, Jacob;
- Booth, Claire;
- Buchbinder, David;
- Burns, Siobhan O.;
- Chatila, Talal A.;
- Chou, Janet;
- Daza-Cajigal, Vanessa;
- de Bruin, Lisa M. Ott;
- de la Morena, MaiteTeresa;
- Di Matteo, Gigliola
Publication type:
Article
Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene.
Published in:
Journal of Leukocyte Biology, 2020, v. 108, n. 2, p. 739, doi. 10.1002/JLB.5MA0220-239R
By:
- Cifaldi, Cristina;
- Cotugno, Nicola;
- Di Cesare, Silvia;
- Giliani, Silvia;
- Di Matteo, Gigliola;
- Amodio, Donato;
- Piano Mortari, Eva;
- Chiriaco, Maria;
- Buonsenso, Danilo;
- Zangari, Paola;
- Pagliara, Daria;
- Gaspari, Stefania;
- Carsetti, Rita;
- Palma, Paolo;
- Finocchi, Andrea;
- Locatelli, Franco;
- Rossi, Paolo;
- Doria, Margherita;
- Cancrini, Caterina
Publication type:
Article
A variable degree of autoimmunity in the pedigree of a patient with type 1 diabetes homozygous for the PTPN22 1858 T variant.
Published in:
Pediatric Diabetes, 2013, v. 14, n. 4, p. 304, doi. 10.1111/j.1399-5448.2012.00891.x
By:
- Capasso, Francesca;
- Rapini, Novella;
- Di Matteo, Gigliola;
- Testi, Manuela;
- Arcano, Susanna;
- Lidano, Roberta;
- Petrelli, Arianna;
- Rossi, Paolo;
- Piccinini, Simona;
- Manca Bitti, Maria Luisa;
- Angelini, Federica
Publication type:
Article
Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience.
Published in:
Pediatric Allergy & Immunology, 2017, v. 28, n. 8, p. 801, doi. 10.1111/pai.12814
By:
- Angelino, Giulia;
- De Angelis, Paola;
- Faraci, Simona;
- Rea, Francesca;
- Romeo, Erminia Francesca;
- Torroni, Filippo;
- Tambucci, Renato;
- Claps, Alessia;
- Francalanci, Paola;
- Chiriaco, Maria;
- Di Matteo, Gigliola;
- Cancrini, Caterina;
- Palma, Paolo;
- D'Argenio, Patrizia;
- Dall'Oglio, Luigi;
- Rossi, Paolo;
- Finocchi, Andrea
Publication type:
Article
Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient.
Published in:
Pediatric Allergy & Immunology, 2017, v. 28, n. 2, p. 203, doi. 10.1111/pai.12684
By:
- Cifaldi, Cristina;
- Angelino, Giulia;
- Chiriaco, Maria;
- Di Cesare, Silvia;
- Claps, Alessia;
- Serafinelli, Jessica;
- Rossi, Paolo;
- Antoccia, Antonio;
- Di Matteo, Gigliola;
- Cancrini, Caterina;
- De Villartay, Jean Pierre;
- Finocchi, Andrea
Publication type:
Article
Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.
Published in:
Pediatric Allergy & Immunology, 2016, v. 27, n. 3, p. 242, doi. 10.1111/pai.12527
By:
- Chiriaco, Maria;
- Salfa, Irene;
- Di Matteo, Gigliola;
- Rossi, Paolo;
- Finocchi, Andrea
Publication type:
Article
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1276697
By:
- Finocchi, Andrea;
- Pacillo, Lucia;
- Chiriaco, Maria;
- Di Matteo, Gigliola;
- Francalanci, Paola;
- Angelino, Giulia;
- Caldaro, Tamara;
- Rivalta, Beatrice;
- O’Mara, Maurice;
- Suisheng Zhang;
- Lepri, Francesca Romana;
- Novelli, Antonio;
- De Angelis, Paola;
- Knaus, Ulla G.;
- Rea, Francesca
Publication type:
Article

Found: 28

Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.

Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels.

Case Report: Altered NK Cell Compartment and Reduced CXCR4 Chemotactic Response of B Lymphocytes in an Immunodeficient Patient With HPV-Related Disease.

Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.

First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia.

Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ<sup>+</sup> T and B Cells.

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56<sup>bright</sup> NKG2A<sup>+++</sup> Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

IPINeT Ped-unPAD Study: Goals, Design, and Preliminary Results.

The Evolutionary Scenario of Pediatric Unclassified Primary Antibody Deficiency to Adulthood.

Novel Compound Heterozygous Mutations in IL-7 Receptor α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment.

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.

Dual-regulated Lentiviral Vector for Gene Therapy of X-linked Chronic Granulomatosis.

Humoral and Cellular Response Following Vaccination With the BNT162b2 mRNA COVID-19 Vaccine in Patients Affected by Primary Immunodeficiencies.

Cryptococcal Meningitis and Post-Infectious Inflammatory Response Syndrome in a Patient With X-Linked Hyper IgM Syndrome: A Case Report and Review of the Literature.

Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.

Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.

Pancytopenia and severe sepsis in an adult case of congenital X-linked agammaglobulinemia (XLA).

Immunological Aspects of X-Linked Chronic Granulomatous Disease Female Carriers.

JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long‐known gene.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56<sup>bright</sup> NKG2A<sup>+++</sup> Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Partial T cell defects and expanded CD56<sup>bright</sup> NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene.

A variable degree of autoimmunity in the pedigree of a patient with type 1 diabetes homozygous for the PTPN22 1858 T variant.

Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience.

Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient.

Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.

Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.