135 Mycobacterial Infections in cChildren With Chronic Granulomatous Disease

por Lugo-Reyes, Saul, Galicia, Lizbeth Blancas, Bustamante, Jacinta
Publicado 2012

A New Patient with p40(phox) Deficiency and Chronic Immune Thrombocytopenia

por Neehus, Anna-Lena, Fusaro, Mathieu, Lévy, Romain, Bustamante, Jacinta
Publicado 2023

Human autoantibodies underlying infectious diseases

por Puel, Anne, Bastard, Paul, Bustamante, Jacinta, Casanova, Jean-Laurent
Publicado 2022

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

por AlKhater, Suzan A., Deswarte, Caroline, Casanova, Jean‐Laurent, Bustamante, Jacinta
Publicado 2020

Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia

por Guèye, Mame Sokhna, Ndiaye-Diop, Mame Téné, Bustamante, Jacinta, Dièye, Tandakha Ndiaye
Publicado 2023

Cutaneous Granulomatosis Revealing Whipple’s Disease: Value of Tropheryma whipplei Polymerase Chain Reaction Assay for the Diagnosis

por Zayet, Souheil, Isnard, Pierre, Bustamante, Jacinta, Boutboul, David, Abroug, Sarra, Belfeki, Nabil
Publicado 2021

Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review

por Tovo, Pier-Angelo, Garazzino, Silvia, Saglio, Francesco, Scolfaro, Carlo, Bustamante, Jacinta, Badolato, Raffaele, Fagioli, Franca
Publicado 2020

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

por SARRAFZADEH, Shokouh azam, MAHLOOJIRAD, Maryam, NOURIZADEH, Maryam, CASANOVA, Jean-Laurent, POURPAK, Zahra, BUSTAMANTE, Jacinta, MOIN, Mostafa
Publicado 2016

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

por SARRAFZADEH, Shokouh Azam, MAHLOOJIRAD, Maryam, NOURIZADEH, Maryam, CASANOVA, Jean-Laurent, POURPAK, Zahra, BUSTAMANTE, Jacinta, MOIN, Mostafa
Publicado 2016

Interferon-γ Autoantibodies as Predisposing Factor for Nontuberculous Mycobacterial Infection

por Valour, Florent, Perpoint, Thomas, Sénéchal, Agathe, Kong, Xiao-Fei, Bustamante, Jacinta, Ferry, Tristan, Chidiac, Christian, Ader, Florence
Publicado 2016

Chronic upper airway inflammation related to high Th2 cytokines in Mendelian susceptibility to mycobacterial disease case

por Benhsaien, Ibtihal, Yang, Rui, Ailal, Fatima, Weisshaar, Marc, Mele, Federico, Casanova, Jean-Laurent, Bustamante, Jacinta, Bousfiha, Ahmed
Publicado 2022

Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children

por Galal, Nermeen, Boutros, Jeannette, Marsafy, Aisha, Kong, Xiao-Fei, Feinberg, Jacqueline, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta
Publicado 2012

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

por Lugo Reyes, Saul Oswaldo, Mahlaoui, Nizar, Prando, Carolina, Blancas Galicia, Lizbeth, Hubeau, Marjorie, Blanche, Stéphane, Picard, Capucine, Casanova, Jean-Laurent, Bustamante, Jacinta
Publicado 2013

Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency

por Neehus, Anna-Lena, Tuano, Karen, Le Voyer, Tom, Nandiwada, Sarada L., Murthy, Kruthi, Puel, Anne, Casanova, Jean-Laurent, Chinen, Javier, Bustamante, Jacinta
Publicado 2022

IL-12 drives functional plasticity of human group 2 innate lymphoid cells

por Lim, Ai Ing, Menegatti, Silvia, Bustamante, Jacinta, Le Bourhis, Lionel, Allez, Matthieu, Rogge, Lars, Casanova, Jean-Laurent, Yssel, Hans, Di Santo, James P.
Publicado 2016

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency

por Dotta, Laura, Vairo, Donatella, Giacomelli, Mauro, Moratto, Daniele, Tamassia, Nicola, Vermi, William, Lonardi, Silvia, Casanova, Jean-Laurent, Bustamante, Jacinta, Giliani, Silvia, Badolato, Raffaele
Publicado 2020

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report

por Buda, Guadalupe, Valdez, Rita María, Biagioli, German, Olivieri, Federico A., Affranchino, Nicolás, Bouso, Carolina, Lotersztein, Vanesa, Bogunovic, Dusan, Bustamante, Jacinta, Martí, Marcelo A.
Publicado 2020

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing

por Bigio, Benedetta, Seeleuthner, Yoann, Kerner, Gaspard, Migaud, Mélanie, Rosain, Jérémie, Boisson, Bertrand, Nasca, Carla, Puel, Anne, Bustamante, Jacinta, Casanova, Jean-Laurent, Abel, Laurent, Cobat, Aurelie
Publicado 2021

Notch, RORC and IL-23 signals cooperate to promote multi-lineage human innate lymphoid cell differentiation

por Croft, Carys A., Thaller, Anna, Marie, Solenne, Doisne, Jean-Marc, Surace, Laura, Yang, Rui, Puel, Anne, Bustamante, Jacinta, Casanova, Jean-Laurent, Di Santo, James P.
Publicado 2022

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

por Gruber, Conor, Martin-Fernandez, Marta, Ailal, Fatima, Qiu, Xueer, Taft, Justin, Altman, Jennie, Rosain, Jérémie, Buta, Sofija, Bousfiha, Aziz, Casanova, Jean-Laurent, Bustamante, Jacinta, Bogunovic, Dusan
Publicado 2020