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by Stray-Pedersen, Asbjørg, MD, PhD and Sorte, Hanne Sørmo, MS and Samarakoon, Pubudu, MS and Gambin, Tomasz, PhD and Chinn, Ivan K., MD and Coban Akdemir, Zeynep H., PhD and Erichsen, Hans Christian, MD, PhD and Forbes, Lisa R., MD and Gu, Shen, PhD and Yuan, Bo, PhD and Jhangiani, Shalini N., MS and Muzny, Donna M., MS and Rødningen, Olaug Kristin, PhD and Sheng, Ying, PhD and Nicholas, Sarah K., MD, PhD and Noroski, Lenora M., MD, MPH and Seeborg, Filiz O., MD, MPH and Davis, Carla M., MD and Canter, Debra L., MS and Mace, Emily M., PhD and Vece, Timothy J., MD and Allen, Carl E., MD, PhD and Abhyankar, Harshal A., MS and Boone, Philip M., MD, PhD and Beck, Christine R., PhD and Wiszniewski, Wojciech, MD, PhD and Fevang, Børre, MD, PhD and Aukrust, Pål, MD, PhD and Tjønnfjord, Geir E., MD, PhD and Gedde-Dahl, Tobias, MD, PhD and Hjorth-Hansen, Henrik, MD, PhD and Dybedal, Ingunn, MD, PhD and Nordøy, Ingvild, MD, PhD and Jørgensen, Silje F., MD and Abrahamsen, Tore G., MD, PhD and Øverland, Torstein, MD and Bechensteen, Anne Grete, MD, PhD and Skogen, Vegard, MD, PhD and Osnes, Liv T.N., MD, PhD and Kulseth, Mari Ann, PhD and Prescott, Trine E., MD and Rustad, Cecilie F., MD and Heimdal, Ketil R., MD, PhD and Belmont, John W., MD, PhD and Rider, Nicholas L., DO and Chinen, Javier, MD, PhD and Cao, Tram N., MS and Smith, Eric A., BSc and Caldirola, Maria Soledad, BSc and Bezrodnik, Liliana, MD and Lugo Reyes, Saul Oswaldo, MD and Espinosa Rosales, Francisco J., MD and Guerrero-Cursaru, Nina Denisse, BSc and Pedroza, Luis Alberto, PhD and Poli, Cecilia M., MD and Franco, Jose L., MD, PhD and Trujillo Vargas, Claudia M., PhD and Aldave Becerra, Juan Carlos, MD and Wright, Nicola, MD and Issekutz, Thomas B., MD and Issekutz, Andrew C., MD and Abbott, Jordan, MD and Caldwell, Jason W., DO and Bayer, Diana K., DO and Chan, Alice Y., MD, PhD and Aiuti, Alessandro, MD, PhD and Cancrini, Caterina, MD, PhD and Holmberg, Eva, MD and West, Christina, MD, PhD and Burstedt, Magnus, MD, PhD and Karaca, Ender, MD and Yesil, Gözde, MD and Artac, Hasibe, MD and Bayram, Yavuz, MD and Atik, Mehmed Musa, BSc and Eldomery, Mohammad K., MD and Ehlayel, Mohammad S., MD, PhD and Jolles, Stephen, MD, PhD and Flatø, Berit, MD, PhD and Bertuch, Alison A., MD, PhD and Hanson, I. Celine, MD and Zhang, Victor W., PhD and Wong, Lee-Jun, PhD and Hu, Jianhong, PhD and Walkiewicz, Magdalena, PhD and Yang, Yaping, PhD and Eng, Christine M., MD and Boerwinkle, Eric, PhD and Gibbs, Richard A., PhD and Shearer, William T., MD, PhD and Lyle, Robert, PhD and Orange, Jordan S., MD, PhD and Lupski, James R., MD, PhD, DSc (Hon) and Medicinska fakulteten and Institutionen för klinisk vetenskap and Pediatrik and Umeå universitet
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 232 - 245
Journal Article
Blood, ISSN 0006-4971, 2016, Volume 127, Issue 25, pp. 3154 - 3164
Journal Article
by Marciano, Beatriz E., MD and Huang, Chiung-Yu, PhD and Joshi, Gyan, PhD and Rezaei, Nima, MD and Carvalho, Beatriz Costa, MD and Allwood, Zoe, MD and Ikinciogullari, Aydan, MD and Reda, Shereen M., MD and Gennery, Andrew, MD and Thon, Vojtech, MD and Espinosa-Rosales, Francisco, MD and Al-Herz, Waleed, MD and Porras, Oscar, MD and Shcherbina, Anna, MD and Szaflarska, Anna, MD and Kiliç, Şebnem, MD and Franco, Jose L., MD, PhD and Gómez Raccio, Andrea C., MD and Roxo, Persio, MD and Esteves, Isabel, MD and Galal, Nermeen, MD and Grumach, Anete Sevciovic, MD, PhD and Al-Tamemi, Salem, MD and Yildiran, Alisan, MD and Orellana, Julio C., MD and Yamada, Masafumi, MD and Morio, Tomohiro, MD and Liberatore, Diana, MD and Ohtsuka, Yoshitoshi, MD and Lau, Yu-Lung, MD and Nishikomori, Ryuta, MD and Torres-Lozano, Carlos, MD and Mazzucchelli, Juliana T.L., MD and Vilela, Maria M.S., MD and Tavares, Fabiola S., MD and Cunha, Luciana, MD and Pinto, Jorge A., MD and Espinosa-Padilla, Sara E., MD and Hernandez-Nieto, Leticia, MD and Elfeky, Reem A., MD and Ariga, Tadashi, MD and Toshio, Heike, MD and Dogu, Figen, MD and Cipe, Funda, MD and Formankova, Renata, MD and Nuñez-Nuñez, M. Enriqueta, MD and Bezrodnik, Liliana, MD and Marques, Jose Gonçalo, MD and Pereira, María I., PhD and Listello, Viviana, MD and Slatter, Mary A., MD and Nademi, Zohreh, MD and Kowalczyk, Danuta, MD and Fleisher, Thomas A., MD and Davies, Graham, MD and Neven, Bénédicte, MD and Rosenzweig, Sergio D., MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 4, pp. 1134 - 1141
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1624 - 1634.e17
Journal Article
by de la Morena, M. Teresa, MD and Leonard, David, PhD and Torgerson, Troy R., MD, PhD and Cabral-Marques, Otavio, PhD and Slatter, Mary, MD and Aghamohammadi, Asghar, MD and Chandra, Sharat, MD and Murguia-Favela, Luis, MD and Bonilla, Francisco A., MD, PhD and Kanariou, Maria, MD and Damrongwatanasuk, Rongras, MD and Kuo, Caroline Y., MD and Dvorak, Christopher C., MD and Meyts, Isabelle, MD and Chen, Karin, MD and Kobrynski, Lisa, MD, MPH and Kapoor, Neena, MD and Richter, Darko, MD and DiGiovanni, Daniela, MD and Dhalla, Fatima, MD and Farmaki, Evangelia, MD and Speckmann, Carsten, MD and Español, Teresa, MD and Shcherbina, Anna, MD and Hanson, Imelda Celine, MD and Litzman, Jiri, MD and Routes, John M., MD and Wong, Melanie, MD, PhD and Fuleihan, Ramsay, MD and Seneviratne, Suranjith L., MD and Small, Trudy N., MD and Janda, Ales, MD and Bezrodnik, Liliana, MD and Seger, Reinhard, MD and Raccio, Andrea Gomez, MD and Edgar, J. David M., MD and Chou, Janet, MD and Abbott, Jordan K., MD and van Montfrans, Joris, MD and González-Granado, Luis Ignacio, MD and Bunin, Nancy, MD and Kutukculer, Necil, MD and Gray, Paul, MD and Seminario, Gisela, MD and Pasic, Srdjan, MD and Aquino, Victor, MD and Wysocki, Christian, MD, PhD and Abolhassani, Hassan, MD and Dorsey, Morna, MD and Cunningham-Rundles, Charlotte, MD, PhD and Knutsen, Alan P., MD and Sleasman, John, MD and Costa Carvalho, Beatriz Tavares, MD and Condino-Neto, Antonio, MD and Grunebaum, Eyal, MD and Chapel, Helen, MD and Ochs, Hans D., MD, PhD and Filipovich, Alexandra, MD and Cowan, Mort, MD and Gennery, Andrew, MD and Cant, Andrew, MD and Notarangelo, Luigi D., MD and Roifman, Chaim M., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1282 - 1292
Background X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects.... 
Allergy and Immunology | hematopoietic cell transplantation | CD40 ligand | primary immunodeficiency | defects in class-switch recombination | long-term outcomes | X-linked hyper-IgM syndrome | Karnofsky/Lansky scores | Immunology | Multicenter Study | Immunology and Allergy | Journal Article | Observational Study | CD40 LIGAND DEFICIENCY | BONE-MARROW-TRANSPLANTATION | CHRONIC GRANULOMATOUS-DISEASE | WISKOTT-ALDRICH-SYNDROME | CLINICAL-FEATURES | IMMUNOLOGY | CHILDREN | DEFECTIVE EXPRESSION | PRIMARY IMMUNODEFICIENCY DISEASES | ALLERGY | EUROPEAN EXPERIENCE | T-CELLS | Hyper-IgM Immunodeficiency Syndrome - therapy | Follow-Up Studies | Humans | Middle Aged | Kaplan-Meier Estimate | Proportional Hazards Models | Child, Preschool | Infant | Male | Time | Hematopoietic Stem Cell Transplantation - mortality | Young Adult | Hyper-IgM Immunodeficiency Syndrome - mortality | Adolescent | Adult | Female | Retrospective Studies | Child | Cohort Studies | Transplantation | Hematopoietic stem cells | Analysis | Therapy | Disease | Liver | Central nervous system | Nervous system | Antiinfectives and antibacterials | Blood | Risk factors | Antibody response | Neurodegeneration | Bone marrow | Genetics | Diagnosis | Conditioning | Neutropenia | Binding | Wiskott-Aldrich syndrome | Immunoglobulins | Liver diseases | Mortality | Agammaglobulinemia | BCG | Cholangitis | Hazards | Regression analysis | Survival | Bile duct | Studies | Stem cells | Accident prevention | Ligands | Mutation | Protocol (computers) | Immunoglobulin M | Pneumonia | Transplants & implants | Physicians | Immunoglobulin G | Medical services | Prophylaxis | Infections | Malignancy | Defects | Respiratory tract | Allografts | Bacteria | Children | Age | Medical personnel | Bacterial infections | Complications | Blood cells | Hypersensitivity | Switching | Morbidity | Computer programs | Lymphocytes B | Aplasia | Collaboration | Medical prognosis | Health hazards | Cancer | Lansky scores | Karnofsky
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 | Mycobacteria | chronic granulomatous disease | 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
by de Beaucouey, Ludovic and Samarina, Arina and Bustamante, Jacinta and Cobat, Aurelie and Boisson-Dupuis, Stephanie and Feinberg, Jacqueline and Al-Muhsen, Saleh and Janniere, Lucile and Rose, Yoann and de Suremain, Maylis and Kong, Xiao-Fei and Filipe-Santos, Orchidee and Chapgier, Ariane and Picard, Capucine and Fischer, Alain and Dogu, Figen and Ikinciogullari, Aydan and Tanir, Gonul and Al-Hajjar, Sami and Al-Jumaah, Suliman and Frayha, Husn H and Alsum, Zobaida and Al-Ajaji, Sulaiman and Alangari, Abdullah and Al-Ghonaium, Abdulaziz and Adimi, Parisa and Mansouri, Davood and Ben-Mustapha, Imen and Yancoski, Judith and Garty, Ben-Zion and Roiguez-Gallego, Carlos and Caragol, Isabel and Kutukculer, Necil and Kumararatne, Dinakantha S and Patel, Smita and Doffinger, Rainer and Exley, Anew and Jeppsson, Olle and Reichenbach, Janine and Nadal, David and Boyko, Yaryna and Pietrucha, Barbara and Anderson, Suzanne and Levin, Michael and Schandene, Liliane and Schepers, Kinda and Efira, Ane and Mascart, Francoise and Matsuoka, Masao and Sakai, Tatsunori and Siegrist, Claire-Anne and Frecerova, Klara and Blueetters-Sawatzki, Renate and Bernhoeft, Jutta and Freihorst, Joachim and Baumann, Ulrich and Richter, Darko and Haerynck, Filomeen and De Baets, Frans and Novelli, Vas and Lammas, David and Vermylen, Christiane and Tuerlinckx, David and Nieuwhof, Chris and Pac, Malgorzata and Haas, Walther H and Mueller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Levy, Jacob and Raj, Revathi and Cohen, Aileen Cleary and Lewis, David B and Holland, Steven M and Yang, Kuender D and Wang, Xiaochuan and Wang, Xiaohong and Jiang, Liping and Yang, Xiqiang and Zhu, Chaomin and Xie, Yuanyuan and Lee, Pamela Pui Wah and Chan, Koon Wing and Chen, Tong-Xin and Castro, Gabriela and Natera, Ivelisse and Codoceo, Ana and King, Alejana and Bezrodnik, Liliana and Di Giovani, Daniela and Isabel Gaillard, Maria and de Moraes-Vasconcelos, Dewton and Grumach, Anete Sevciovic and da Silva Duarte, Alberto Jose and Aldana, Ruth and Javier Espinosa-Rosales, Francisco and Bejaoui, Mohammed and Bousfiha, Ahmed Aziz and El Baghdadi, Jamila and Ozbek, Namik and Aksu, Guzide and ...
Medicine, ISSN 0025-7974, 11/2010, Volume 89, Issue 6, pp. 381 - 402
Interleukin-12 receptor beta 1 (IL-12R beta 1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an... 
Journal Article
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 12/2015, Volume 62, Issue 12, pp. 2101 - 2107
Aim We analyzed data from 71 patients with chronic granulomatous disease (CGD) with a confirmed genetic diagnosis, registered in the online Latin American... 
infections | registry | mutations | bacillus Calmette‐Guérin vaccine | chronic granulomatous disease | NADPH oxidase | Mutations | Chronic granulomatous disease | Infections | Bacillus Calmette-Guérin vaccine | Registry | SUSCEPTIBILITY | CYBB | FEATURES | PRIMARY IMMUNODEFICIENCY DISEASES | ONCOLOGY | TERM-FOLLOW-UP | PEDIATRICS | COMPLICATIONS | HEMATOLOGICALLY IMPORTANT MUTATIONS | HEMATOLOGY | BCG VACCINATION | 2ND UPDATE | bacillus Calmette-Guerin vaccine | Sepsis - etiology | Skin Diseases - genetics | Humans | Osteomyelitis - genetics | Granulomatous Disease, Chronic - genetics | Hispanic Americans | Abscess - epidemiology | Child, Preschool | Diarrhea - epidemiology | Infant | Male | Abscess - genetics | Granulomatous Disease, Chronic - complications | Granulomatous Disease, Chronic - epidemiology | Lymphatic Diseases - epidemiology | Lymphatic Diseases - genetics | Otitis - genetics | Osteomyelitis - etiology | NADPH Oxidases - genetics | Female | Registries | Skin Diseases - epidemiology | Osteomyelitis - epidemiology | Otitis - etiology | Child | Infant, Newborn | Pneumonia - genetics | Urinary Tract Infections - genetics | Pneumonia - etiology | Pneumonia - epidemiology | Abscess - etiology | Sepsis - epidemiology | NADPH Oxidase 2 | Sepsis - genetics | Membrane Glycoproteins - genetics | Skin Diseases - etiology | Urinary Tract Infections - epidemiology | Diarrhea - genetics | Urinary Tract Infections - etiology | Adolescent | Age of Onset | Diarrhea - etiology | Otitis - epidemiology | Lymphatic Diseases - etiology | Mutation | Pneumonia | Bacterial pneumonia | Vaccination | Immunodeficiency | Mycoses | Urinary tract infections
Journal Article