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1. Full Text Mendelian susceptibility to mycobacterial disease: 2014–2018 update
by Rosain, Jérémie and Kong, Xiao‐Fei and Martinez‐Barricarte, Ruben and Oleaga‐Quintas, Carmen and Ramirez‐Alejo, Noé and Markle, Janet and Okada, Satoshi and Boisson‐Dupuis, Stéphanie and Casanova, Jean‐Laurent and Bustamante, Jacinta
Immunology and Cell Biology, ISSN 0818-9641, 04/2019, Volume 97, Issue 4, pp. 360 - 367
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN‐γ immunity. Since 1996, disease‐causing mutations have been found in... 
primary immunodeficiency | mycobacterium | IFN‐γ | next‐generation sequencing | IFN-γ | next-generation sequencing | RECEPTOR 1 DEFICIENCY | IMMUNOLOGY | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | INBORN-ERRORS | CELL BIOLOGY | IFN-gamma | GAIN-OF-FUNCTION | INTERFERON-GAMMA | B-CELL | MUTATION | PATIENT | INFECTION | INTRAMEMBRANE PROTEASE SPPL2A
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2. Full Text A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency
by Rosain, Jérémie and Oleaga-Quintas, Carmen and Deswarte, Caroline and Verdin, Hannah and Marot, Stéphane and Syridou, Garyfallia and Mansouri, Mahboubeh and Mahdaviani, S Alireza and Venegas-Montoya, Edna and Tsolia, Maria and Mesdaghi, Mehrnaz and Chernyshova, Liudmyla and Stepanovskiy, Yuriy and Parvaneh, Nima and Mansouri, Davood and Pedraza-Sánchez, Sigifredo and Bondarenko, Anastasia and Espinosa-Padilla, Sara E and Yamazaki-Nakashimada, Marco A and Nieto-Patlán, Alejandro and Kerner, Gaspard and Lambert, Nathalie and Jacques, Corinne and Corvilain, Emilie and Migaud, Mélanie and Grandin, Virginie and Herrera, María T and Jabot-Hanin, Fabienne and Boisson-Dupuis, Stéphanie and Picard, Capucine and Nitschke, Patrick and Puel, Anne and Tores, Frederic and Abel, Laurent and Blancas-Galicia, Lizbeth and De Baere, Elfride and Bole-Feysot, Christine and Casanova, Jean-Laurent and Bustamante, Jacinta
Journal of Clinical Immunology, ISSN 0271-9142, 7/2018, Volume 38, Issue 5, pp. 617 - 627
Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most... 
Medical Microbiology | Mycobacterium | Salmonella | IL-12Rβ1 | Biomedicine | Immunology | Copy number variation | Histoplasma | Alu elements | Infectious Diseases | Internal Medicine | Histoplasmosis | Candidiasis | Copy number | Vaccination | BCG | Interleukin 12 | Interleukin 23 | Genomes | Lymphocytes T | Genetic screening | Lymphocytes B | Etiology | γ-Interferon | Interleukin 1 | Salmonellosis | Mutation | Variation | mycobacterium | salmonella | copy number variation | histoplasma
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3. Full Text LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency
by Rosain, Jérémie and Deswarte, Caroline and Hancioglu, Gonca and Oleaga-Quintas, Carmen and Kutlug, Seyhan and Kartal, Ibrahim and Kuzu, Isinsu and Toullec, Laurie and Tusseau, Maud and Casanova, Jean-Laurent and Yildiran, Alisan and Bustamante, Jacinta
Journal of Clinical Immunology, ISSN 0271-9142, 10/2019, Volume 39, Issue 7, pp. 739 - 742
Medical Microbiology | Infectious Diseases | Internal Medicine | Biomedicine | Immunology | IMMUNOLOGY | Interferon
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4. Full Text Mutations in the adaptor-binding domain and associated linker region of p110δ cause activated PI3K-δ. Syndrome 1 (APDS1)
by Heurtier, Lucie and Lamrini, Hicham and Chentout, Loïc and Deau, Marie-Céline and Bouafia, Amine and Rosain, Jérémie and Plaza, Jean-Marc and Parisot, Mélanie and Dumont, Benoit and Turpin, Delphine and Merlin, Etienne and Moshous, Despina and Aladjidi, Nathalie and Neven, Bénédicte and Picard, Capucine and Cavazzana, Marina and Fischer, Alain and Durandy, Anne and Stephan, Jean-Louis and Kracker, Sven
Haematologica, ISSN 0390-6078, 06/2017, Volume 102, Issue 7, pp. e278 - e281
3-KINASE DELTA SYNDROME | HUMAN IMMUNODEFICIENCY | GENE | COHORT | SPECTRUM | PIK3R1 | IDENTIFICATION | HEMATOLOGY | T-Lymphocyte Subsets - immunology | Class I Phosphatidylinositol 3-Kinases - genetics | Humans | Male | DNA Mutational Analysis | Protein Interaction Domains and Motifs - genetics | Class I Phosphatidylinositol 3-Kinases - blood | Female | Immunologic Deficiency Syndromes - blood | Gain of Function Mutation | Immunologic Deficiency Syndromes - diagnosis | Child | Genetic Association Studies | Class I Phosphatidylinositol 3-Kinases - chemistry | Models, Molecular | Phenotype | T-Lymphocyte Subsets - metabolism | Adolescent | Alleles | Biomarkers | Immunologic Deficiency Syndromes - genetics | Protein Conformation | High-Throughput Nucleotide Sequencing | Mutation | Amino Acid Substitution | Online Only
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5. Full Text PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects
by Berland, Aurélie and Rosain, Jérémie and Kaltenbach, Sophie and Allain, Vincent and Mahlaoui, Nizar and Melki, Isabelle and Fievet, Alice and Dubois d'Enghien, Catherine and Ouachée-Chardin, Marie and Perrin, Laurence and Auger, Nathalie and Cipe, Funda Erol and Finocchi, Andrea and Dogu, Figen and Suarez, Felipe and Moshous, Despina and Leblanc, Thierry and Belot, Alexandre and Fieschi, Claire and Boutboul, David and Malphettes, Marion and Galicier, Lionel and Oksenhendler, Eric and Blanche, Stéphane and Fischer, Alain and Revy, Patrick and Stoppa-Lyonnet, Dominique and Picard, Capucine and de Villartay, Jean-Pierre
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 01/2019, Volume 143, Issue 1, pp. 325 - 334.e2
V(D)J recombination ensures the diversity of the adaptive immune system. Although its complete defect causes severe combined immunodeficiency (ie, T B severe... 
ataxia telangiectasia | T-cell receptor α repertoire | next-generation sequencing | DNA repair | V(D)J recombination | Primary immunodeficiency | Flow cytometry | Adaptive systems | Severe combined immunodeficiency | Toxicity | Genes | Fluorescence | Stem cell transplantation | Transplantation | Lymphocytes T | Mitochondrial DNA | Hematopoietic stem cells | Defects | T-cell receptor | Next-generation sequencing | Lymphocytes | Peripheral blood | Ataxia | Biocompatibility | Bioindicators | Diagnosis | Conditioning | Repair | Deoxyribonucleic acid--DNA | Immune system | Immunoglobulins | Patients | Hemopoiesis | Polymerase chain reaction | Breakage | Stem cells | Biomarkers | Ataxia telangiectasia | Mutation | Acute toxicity
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6. Full Text Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies
by El Sissy, C and Rosain, J and Vieira-Martins, P and Bordereau, P and Gruber, A and Devriese, M and de Pontual, L and Taha, MK and Fieschi, C and Picard, C and Fremeaux-Bacchi, V
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 08/2019, Volume 10, p. 1936
The complement system is crucial for defense against pathogens and the removal of dying cells or immune complexes. Thus, clinical indications for possible... 
C2 DEFICIENCY | auto immune diseases | FACTOR-I | PREVALENCE | IMMUNOLOGY | PROPERDIN DEFICIENCY | INVASIVE MENINGOCOCCAL DISEASE | genetic variants | WESTERN CAPE | deficiency | PATHWAY | C6 DEFICIENCY | MUTATIONS | complement | meningococcal infections | MOLECULAR-BASIS | Care and treatment | Autoimmune diseases | Risk factors | Pneumococcal infections
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7. Full Text Long-term follow-up of an activated PI3K-δ syndrome 2 in patient presenting with an agammaglobulinemia phenotype
by Nguyen, Yann and Rosain, Jérémie and Aguilar, Claire and Picard, Capucine and Malphettes, Marion
Annals of Allergy, Asthma & Immunology, ISSN 1081-1206, 12/2018, Volume 121, Issue 6, pp. 739 - 740.e1
HUMAN IMMUNODEFICIENCY | ALLERGY | IMMUNOLOGY
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8. Full Text Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
by Nekooie-Marnany, Nioosha and Deswarte, Caroline and Ostadi, Vajiheh and Bagherpour, Bahram and Taleby, Elaheh and Ganjalikhani-Hakemi, Mazdak and Le Voyer, Tom and Rahimi, Hamid and Rosain, Jérémie and Pourmoghadas, Zahra and Sheikhbahaei, Saba and Khoshnevisan, Razieh and Petersheim, Daniel and Kotlarz, Daniel and Klein, Christoph and Boisson-Dupuis, Stéphanie and Casanova, Jean-Laurent and Bustamante, Jacinta and Sherkat, Roya
Journal of Clinical Immunology, ISSN 0271-9142, 10/2018, Volume 38, Issue 7, pp. 787 - 793
Inborn errors of IFN-γ-mediated immunity underlie Mendelian Susceptibility to Mycobacterial Disease (MSMD), which is characterized by an increased... 
(BCG)-osis | IL-12 | interferon | Mendelian susceptibility to mycobacterial disease | Bacillus Calmette–Guérin vaccination | Osteomyelitis | γ-Interferon | Interleukin 1 | BCG | Interleukin 12 | Interleukin 23 | Lymphocytes T | Mutation | Bacillus Calmette-Guérin vaccination
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9. Full Text Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds
by Charbit-Henrion, Fabienne and Bègue, Bernadette and Sierra, Anais and Hanein, Sylvain and Stolzenberg, Marie-Claude and Li, Zhi and Pellegrini, Sandra and Garcelon, Nicolas and Jeanpierre, Marc and Neven, Benedicte and Loge, Isabelle and Picard, Capucine and Rosain, Jeremie and Bustamante, Jacinta and Le Lorc'h, Marc and Pigneur, Benedicte and Fernandes, Alicia and Rieux-Laucat, Frederic and Dias, Jorge Amil and Ruemmele, Frank M and Cerf-Bensussan, Nadine and GENIUS Grp and GENIUS Group
PLoS ONE, ISSN 1932-6203, 10/2018, Volume 13, Issue 10, p. e0205826
Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by... 
DIAGNOSIS | ONSET IBD | INFLAMMATORY-BOWEL-DISEASE | HUMAN GENOME | COLITIS | VARIANTS | MULTIDISCIPLINARY SCIENCES | INTERLEUKIN-10 RECEPTOR | HUMANS | ALPHA | MUTATIONS | Tyk2 protein | Inflammatory bowel diseases | Authorship | Laboratories | Copy number | Interleukin | Parents | Stem cell transplantation | Frameshift mutation | Transplantation | Genomes | Gene deletion | Founder effect | Cell surface | Hematopoietic stem cells | Gene sequencing | Proteins | Next-generation sequencing | Clonal deletion | Intestine | Hepatology | Gastroenterology | Interleukin 1 | Deletion | Genetics | Lesions | Age | Deoxyribonucleic acid--DNA | Microsatellites | Cytokines | Nutrition | DNA probes | Patients | Hemopoiesis | Inflammatory bowel disease | Signaling | Monocytes | Infectious diseases | Stem cells | Interleukin 10 | Mutation | DNA sequencing | Life Sciences | Immunology | Deoxyribonucleic acid | DNA
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10. Full Text Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies
by Hadjadj, Jérôme and Guffroy, Aurélien and Delavaud, Christophe and Taieb, Guillaume and Meyts, Isabelle and Fresard, Anne and Streichenberger, Nathalie and L’Honneur, Anne-Sophie and Rozenberg, Flore and D’Aveni, Maud and Aguilar, Claire and Rosain, Jérémie and Picard, Capucine and Mahlaoui, Nizar and Lecuit, Marc and Hermine, Olivier and Lortholary, Olivier and Suarez, Felipe
Journal of Clinical Immunology, ISSN 0271-9142, 1/2019, Volume 39, Issue 1, pp. 55 - 64
Progressive multifocal leukoencephalopathy (PML) is a rare but severe demyelinating disease caused by the polyomavirus JC (JCV) in immunocompromised patients.... 
immunosuppressive therapy | Medical Microbiology | combined immunodeficiencies | Biomedicine | Immunology | primary immunodeficiencies | Infectious Diseases | Internal Medicine | polyomavirus JC | Progressive multifocal leukoencephalopathy | RISK | ANTIBODY | IMMUNOLOGY | THERAPY | RITUXIMAB | DISEASE | RAG1 MUTATIONS | EPIDEMIOLOGY | Rituximab | Lymphocytes T | Inflammation | Tumor necrosis factor-α | Patients | Leukoencephalopathy | Immunosuppressive agents | Genetic screening | CD4 antigen | Immunosuppression | Lymphocytes B | Lymphopenia | Demyelination | Immunocompromised hosts | Diagnosis | Azathioprine | Life Sciences | Cancer
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11. Full Text Assessing complement blockade in patients with paroxysmal nocturnal hemoglobinuria receiving eculizumab
by De Latour, Régis Peffault and Fremeaux-Bacchi, Véronique and Porcher, Raphaël and Xhaard, Aliénor and Rosain, Jérémie and Castaneda, Diana Cadena and Vieira-Martins, Paula and Roncelin, Stéphane and Rodriguez-Otero, Paula and Plessier, Aurélie and De Fontbrune, Flore Sicre and Abbes, Sarah and Robin, Marie and Socié, Gérard
Blood, ISSN 0006-4971, 01/2015, Volume 125, Issue 5, pp. 775 - 783
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by intravascular hemolysis, which is effectively controlled with eculizumab, a humanized monoclonal... 
ACTIVATION | HEMOLYTIC-UREMIC SYNDROME | INHIBITOR ECULIZUMAB | RENAL-TRANSPLANT | THERAPY | MANAGEMENT | ERYTHROCYTES | GENETIC-VARIANTS | HEMATOLOGY | DEFICIENCY | PREGNANCY | Hemolysis - drug effects | Immunoassay | Humans | Middle Aged | Male | Hemoglobinuria, Paroxysmal - pathology | Drug Monitoring - methods | Hemolysis - immunology | Hemoglobinuria, Paroxysmal - immunology | Immunologic Factors - pharmacokinetics | Antibodies, Monoclonal, Humanized - pharmacokinetics | Antibodies, Monoclonal, Humanized - blood | Adult | Female | Hemoglobinuria, Paroxysmal - blood | Complement Activation - drug effects | Antibodies, Monoclonal, Humanized - therapeutic use | Complement C5 - metabolism | Erythrocyte Transfusion | Immunologic Factors - blood | Biomarkers - blood | Bilirubin - blood | L-Lactate Dehydrogenase - blood | Hemoglobinuria, Paroxysmal - drug therapy | Aged | Infusions, Intravenous | Complement C5 - antagonists & inhibitors | Immunologic Factors - therapeutic use
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12. Full Text Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry
by Mahlaoui, Nizar and Picard, Capucine and Bach, Perrine and Costes, Laurence and Courteille, Virginie and Ranohavimparany, Anja and Alcaïs, Alexandre and Jais, Jean-Philippe and Fischer, Alain and Bellanné-Chantelot, Christine and Bustamante, Jacinta and Chollet-Martin, Sylvie and Drouet, Christian and Fremeaux-Bacchi, Véronique and Kannengiesser, Caroline and Girardin, Virginie and Lambert, Nathalie and Proulle, Valérie and Rosain, Jérémie and Stasia, Marie José and Lyonnet, Dominique Stoppa and Theodorou, Ioannis and Abou-Chahla, Wadih and Adoue, Daniel and Aladjidi, Nathalie and Amoura, Zahir and Armari-Alla, Corinne and Bader-Meunier, Brigitte and Barlogis, Vincent and Bayart, Sophie and Bertrand, Yves and Blanche, Stéphane and Bodet, Damien and Bonnotte, Bernard and Borie, Raphaël and Boutard, Patrick and Briandet, Claire and Brion, Jean-Paul and Brouard, Jacques and Carausu, Liana and Catherinot, Emilie and Cheikh, Nathalie and Cohen-Beaussant, Sarah and Couderc, Louis-Jean and Cougoul, Pierre and Couillault, Gérard and de Saint Basile, Geneviève and Devoldere, Catherine and Deville, Anne and Dore, Eric and Dulieu, Fabienne and Durieu, Isabelle and Werle, Natacha Entz and Fieschi, Claire and Fouyssac, Fanny and Frange, Pierre and Gajdos, Vincent and Galicier, Lionel and Gandemer, Virginie and Gardembas, Martine and Gaud, Catherine and Grosbois, Bernard and Guffroy, Aurélien and Guitton, Corinne and Guillerm, Gaelle and Hachulla, Eric and Hamidou, Mohamed and Haro, Sophie and Hatchuel, Yves and Hermine, Olivier and Hoarau, Cyrille and Hoen, Bruno and Hot, Arnaud and Humbert, Sébastien and Jaccard, Arnaud and Jacquot, Serge and Jaussaud, Rolland and Jeandel, Pierre-Yves and Jeziorski, Eric and Kebaili, Kamila and Korganow, Anne-Sophie and Lambotte, Olivier and Lanternier, Fanny and Larroche, Claire and Le Quellec, Alain and Le Moigne, Emmanuelle and Le Moing, Vincent and Launay, David and Lebranchu, Yvon and Lecuit, Marc and Lefevre, Guillaume and Lemal, Richard and Li-Thiao-Te, Valérie and Lortholary, Olivier and Malphettes, Marion and Marie-Cardine, Aude and Silva, Nicolas Martin and Masseau, Agathe and Massot, Christian and Mazingue, Françoise and ... and CEREDIH French PID Study Grp and CEREDIH French PID study group
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2019, Volume 143, Issue 4, pp. 1646 - 1649.e10
[...]the (genetic) diagnostic delay was long for many patients (see below). [...]we looked at whether the patients' region of residence within France (which... 
ALLERGY | IMMUNOLOGY | INBORN-ERRORS | Multiple births | Immunoglobulins | Disease | Genomics | Overseas | Identification | Genomes | Medical screening | Embryos | Patients | Genetic screening | Gene sequencing | Next-generation sequencing | Genetic counseling | Immunology | Diagnostic systems | Mutation | Diagnosis | Life Sciences | Biomolecules | Biochemistry, Molecular Biology
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13. Full Text Disseminated abscesses due to Mycoplasma faucium in a patient with activated PI3Kδ syndrome type 2
by Dominguez-Pinilla, Nerea and Allende, Luis M and Rosain, Jérémie and Gallego, Maria del Carmen and Chaves, Fernando and Deswarte, Caroline and Viedma, Esther and de Inocencio Arocena, Jaime and Ruiz-Contreras, Jesús and Bustamante, Jacinta and Gonzalez-Granado, Luis Ignacio
The Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 09/2018, Volume 6, Issue 5, pp. 1796 - 1798.e2
There were no other relevant variants in the 312 known genes of inborn errors of immunity (according to the IUIS 2017 classification). [...]this mutation fits... 
PI3K | ALLERGY | DNA | MUTATION | PHENOTYPE | PIK3R1 | IMMUNOLOGY | TOR protein | Immunoglobulin M | Common variable immunodeficiency | Genes | Stem cell transplantation | Innate immunity | Infections | Lymphocytes T | Kinases | Hematopoietic stem cells | Genotype & phenotype | Immunology | Lymphocytes | Bacteria | Immunity (humoral) | Immune system | Phenotypes | Immunoglobulins | Agammaglobulinemia | Antimicrobial agents | Rapamycin | Oropharynx | Patients | Hemopoiesis | Antibiotics | Lymphocytes B | Abscesses | Stem cells | Mutation
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14. Full Text Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes
by Hadjadj, J and Aladjidi, N and Fernandes, H and Leverger, G and Magerus-Chatinet, A and Mazerolles, F and Stolzenberg, MC and Jacques, S and Picard, C and Rosain, J and Fourrage, C and Hanein, S and Zarhrate, M and Pasquet, M and Abou Chahla, W and Barlogis, V and Bertrand, Y and Pellier, I and Bottolier, EC and Fouyssac, F and Blouin, P and Thomas, C and Cheikh, N and Dore, E and Pondarre, C and Plantaz, D and Jeziorski, E and Millot, F and Garcelon, N and Ducassou, S and Perel, Y and Leblanc, T and Neven, B and Fischer, A and Rieux-Laucat, F and French Reference Ctr Pediat Autoim and members of the French Reference Center for Pediatric Autoimmune Cytopenia (CEREVANCE)
BLOOD, ISSN 0006-4971, 07/2019, Volume 134, Issue 1, pp. 9 - 21
Evans syndrome (ES) is a rare severe autoimmune disorder characterized by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. In most... 
HEMOLYTIC-ANEMIA | DISEASE | DYSREGULATION | STAT3 | LYMPHOPROLIFERATIVE SYNDROME | CELL-FUNCTION | MUTATIONS | HEMATOLOGY | T-CELLS | ONSET | SELF-TOLERANCE
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