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Rheumatology international, ISSN 0172-8172, 07/2019
Familial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease characterized by recurrent attacks of fever and serositis. Although... 
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2011, Volume 108, Issue 28, pp. 11554 - 11559
Journal Article
by Conti, Francesca, MD, PhD and Lugo-Reyes, Saul Oswaldo, MD and Blancas Galicia, Lizbeth, MD and He, Jianxin, MD and Aksu, Güzide, MD and Borges de Oliveira, Edgar, PhD and Deswarte, Caroline, MSc and Hubeau, Marjorie, PhD and Karaca, Neslihan, MD and de Suremain, Maylis, AS and Guérin, Antoine, MSc and Baba, Laila Ait, PhD and Prando, Carolina, MD, PhD and Guerrero, Gloria G., PhD and Emiroglu, Melike, MD and Öz, Fatma Nur, MD and Yamazaki Nakashimada, Marco Antonio, MD and Gonzalez Serrano, Edith, MD and Espinosa, Sara, MD, PhD and Barlan, Isil, MD and Pérez, Nestor, MD, PhD and Regairaz, Lorena, MD and Guidos Morales, Héctor Eduardo, MD and Bezrodnik, Liliana, MD and Di Giovanni, Daniela, MD and Dbaibo, Ghassan, MD and Ailal, Fatima, MD and Galicchio, Miguel, MD and Oleastro, Matias, MD and Chemli, Jalel, MD and Danielian, Silvia, PhD and Perez, Laura, BSc and Ortega, Maria Claudia, MD and Soto Lavin, Susana, MD, PhD and Hertecant, Joseph, MD and Anal, Ozden, MD and Kechout, Nadia, MD and Al-Idrissi, Eman, MD and ElGhazali, Gehad, MD, PhD and Bondarenko, Anastasia, MD and Chernyshova, Liudmyla, MD and Ciznar, Peter, MD and Herbigneaux, Rose-Marie, MD and Diabate, Aminata, AS and Ndaga, Stéphanie, AS and Konte, Barik, AS and Czarna, Ambre, AS and Migaud, Mélanie, AS and Pedraza-Sánchez, Sigifredo, PhD and Zaidi, Mussaret Bano, MD, Msc and Vogt, Guillaume, PhD and Blanche, Stéphane, MD and Benmustapha, Imen, MD and Mansouri, Davood, MD and Abel, Laurent, MD, PhD and Boisson-Dupuis, Stéphanie, PhD and Mahlaoui, Nizar, MD, MSc, MPH and Bousfiha, Ahmed Aziz, MD and Picard, Capucine, MD, PhD and Barbouche, Ridha, MD, PhD and Al-Muhsen, Saleh, MD and Espinosa-Rosales, Francisco J., MD and Kütükçüler, Necil, MD and Condino-Neto, Antonio, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Bustamante, Jacinta, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 241 - 248.e3
Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide... 
Allergy and Immunology | primary immunodeficiency | chronic granulomatous disease | Mycobacteria | BCG | tuberculosis | SUSCEPTIBILITY | VACCINATION | 1ST REPORT | CLINICAL-FEATURES | KINDREDS | IMMUNOLOGY | DEFICIENCY | ALLERGY | INFECTION | 2 CHILDREN | MUTATIONS | Granulomatous Disease, Chronic - mortality | Mycoses - epidemiology | Mycobacterium Infections - diagnosis | Bacterial Infections - etiology | Humans | Tuberculosis - etiology | Child, Preschool | Infant | Male | Granulomatous Disease, Chronic - complications | Tuberculosis - diagnosis | Granulomatous Disease, Chronic - epidemiology | Female | Retrospective Studies | Child | Mycobacterium Infections - epidemiology | Mycobacterium Infections - etiology | Mycobacterium Infections - mortality | Granulomatous Disease, Chronic - therapy | Patient Outcome Assessment | Bacterial Infections - epidemiology | Mycoses - diagnosis | Bacterial Infections - diagnosis | Mycoses - mortality | Mycoses - etiology | BCG Vaccine - administration & dosage | Bacterial Infections - mortality | Care and treatment | Chronic granulomatous disease | Bacterial infections | Analysis | Cytochrome | Pathogens | Immunization | Tuberculosis | Infectious diseases | Laboratories | Infections | Mutation | Patients | Mycoses | Mycobacterium Infections | Life Sciences | Granulomatous Disease, Chronic | BCG Vaccine | Bacterial Infections
Journal Article
Indian Journal of Clinical Biochemistry, ISSN 0970-1915, 01/2019, Volume 34, Issue 1, pp. 95 - 100
Anti-beta-2-glycoprotein I antibodies (anti-β2GPI) which are the main antiphospholipid antibodies that characterize the autoimmune "antiphospholipid syndrome"... 
Autoimmunity | Rheumatological disorder | Anti-β2GPI | Thrombosis
Journal Article
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2013, Volume 33, Issue 1, pp. 74 - 83
Primary immunodeficiency diseases (PIDs) are inherited disorders of the immune system resulting in increased susceptibility to unusual infections and... 
online database | Medical Microbiology | Biomedicine | Immunology | Turkey | primary immunodeficiency | Infectious Diseases | Internal Medicine | ESID | Registry | AUSTRALIA | DISORDERS | 1ST REPORT | IMMUNOLOGY | NATIONAL REGISTRY | CHILDREN | DATABASE | IRAN | UPDATE | Autoimmunity | Medical colleges | Medical research | Mortality | Medicine, Experimental | Immunological deficiency syndromes | Birth defects
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, pp. 167 - 41
BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has... 
Traps | MKD | Hereditary recurrent fevers | Infevers | Genotype-phenotype associations | Caps | FMF | Eurofever | MEDICINE, RESEARCH & EXPERIMENTAL | FAMILIAL MEDITERRANEAN FEVER | GENE | GENETICS & HEREDITY | PERIODIC FEVERS | MUTATIONS | Genetic aspects | Research | Hereditary autoinflammatory diseases | Risk factors | Genes | Gangrene | Tumor necrosis factor-TNF | Mutation | Patients | Fever | Chronic illnesses
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 12/2012, Volume 32, Issue 6, pp. 1165 - 1179
B lymphocyte subpopulations, previously defined classification schemes (Freiburg, Paris, EuroClass), TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene... 
Medical Microbiology | Biomedicine | Immunology | Common variable immunodeficiency | childhood | Infectious Diseases | Internal Medicine | B lymphocyte subpopulations | PHENOTYPE | DISORDERS | ANTIBODY-DEFICIENCY | IGA DEFICIENCY | SUBGROUPS | IMMUNOLOGY | CELL SUBSETS | UPDATE | CONSANGUINITY | EXPRESSION | MANIFESTATIONS | Common Variable Immunodeficiency - immunology | B-Lymphocytes - classification | Humans | Male | Splenomegaly - pathology | Case-Control Studies | Young Adult | Inducible T-Cell Co-Stimulator Protein - genetics | Female | B-Lymphocytes - pathology | B-Cell Activation Factor Receptor - genetics | Child | B-Lymphocytes - metabolism | Inducible T-Cell Co-Stimulator Protein - immunology | B-Cell Activation Factor Receptor - immunology | Severity of Illness Index | Tumor Necrosis Factor Ligand Superfamily Member 13 - immunology | Lymphatic Diseases - immunology | Splenomegaly - immunology | Common Variable Immunodeficiency - pathology | CTLA-4 Antigen - genetics | Common Variable Immunodeficiency - genetics | CTLA-4 Antigen - immunology | Polymorphism, Genetic | Transmembrane Activator and CAML Interactor Protein - genetics | B-Lymphocytes - immunology | Common Variable Immunodeficiency - metabolism | Turkey | Adolescent | Immunologic Memory | Lymphatic Diseases - pathology | Tumor Necrosis Factor Ligand Superfamily Member 13 - genetics | Consanguinity | Mutation | Transmembrane Activator and CAML Interactor Protein - immunology
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 2013, Volume 33, Issue 1, pp. 74 - 83
Journal Article
International Journal of Immunopathology and Pharmacology, ISSN 0394-6320, 7/2018, Volume 32, p. 2058738418779458
Common variable immunodeficiency (CVID) and immunoglobulin A deficiency (IgAD) are the most prevalent primary immunodeficiency disorders. High rates of... 
CVID | familial | IgA deficiency | screening | MANAGEMENT | PHENOTYPE | DISORDERS | IMMUNOLOGY | PATHOLOGY | SELECTIVE IGA DEFICIENCY | PHARMACOLOGY & PHARMACY | UPDATE | LINKAGE | Immunoglobulins | Inheritances
Journal Article
Indian Journal of Clinical Biochemistry, ISSN 0970-1915, 01/2019, Volume 34, Issue 1, p. 95
Anti-beta-2-glycoprotein I antibodies (anti-[beta]2GPI) which are the main antiphospholipid antibodies that characterize the autoimmune "antiphospholipid... 
Journal Article
Journal Article
Immunological Reviews, ISSN 0105-2896, 03/2015, Volume 264, Issue 1, pp. 103 - 120
Journal Article