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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
Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 2015, Volume 4, Issue 1, pp. 38 - 59
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 06/2018, Volume 9, pp. 1439 - 1439
Throughout the world, primary immunodeficiencies (PI) are largely undiagnosed and underreported. Many patients do not receive an accurate and timely diagnosis,... 
Treatment | Diagnosis | Primary immunodeficiencies | Mortality | Morbidity | PRIMARY ANTIBODY DEFICIENCIES | treatment | WORLDWIDE | primary immunodeficiencies | DISEASES | mortality | diagnosis | IMMUNOLOGY | morbidity | Immunological deficiency syndromes | Research
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 | Index Medicus | Abridged Index Medicus | Mycoses | Mycobacterium Infections | Life Sciences | Granulomatous Disease, Chronic | BCG Vaccine | Bacterial Infections
Journal Article
Evidence-Based Child Health, 03/2012, Volume 7, Issue 2, pp. 629 - 717
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 10/2013, Volume 34, Issue 10, pp. 1329 - 1339
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly... 
MYCOBACTERIAL DISEASE | RECEPTOR BETA-1 DEFICIENCY | SUSCEPTIBILITY | INTERLEUKIN-12 | Mendelian susceptibility to mycobacterial disease | IL-12 RECEPTOR | POLYMORPHISMS | PATHWAY GENES | IL-12R1 deficiency | GENETICS & HEREDITY | PULMONARY TUBERCULOSIS | IL12RB1 | T-CELLS | GENOME-WIDE ASSOCIATION
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 7/2016, Volume 36, Issue 5, pp. 415 - 417
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10875-016-0277-2 
Medical Microbiology | Infectious Diseases | Internal Medicine | Biomedicine | Immunology | DISEASES | IMMUNOLOGY | Immune System Diseases - therapy | Quality Improvement | Health Services Accessibility | Humans | Immune System Diseases - diagnosis | Immunodeficiency | Index Medicus
Journal Article
Evidence-Based Child Health, 03/2012, Volume 7, Issue 2, pp. 719 - 720
Journal Article
by Aghamohammadi, Asghar and Abolhassani, Hassan and Kutukculer, Necil and Wassilak, Steve G and Pallansch, Mark A and Kluglein, Samantha and Quinn, Jessica and Sutter, Roland W and Wang, Xiaochuan and Sanal, Ozden and Latysheva, Tatiana and Ikinciogullari, Aydan and Bernatowska, Ewa and Tuzankina, Irina A and Costa-Carvalho, Beatriz T and Franco, Jose Luis and Somech, Raz and Karakoc-Aydiner, Elif and Singh, Surjit and Bezrodnik, Liliana and Espinosa-Rosales, Francisco J and Shcherbina, Anna and Lau, Yu-Lung and Nonoyama, Shigeaki and Modell, Fred and Modell, Vicki and Ozen, Ahmet and Berlin, Andrea and Chouikha, Anissa and Partida-Gaytán, Armando and Kiykim, Ayca and Prakash, Charu and Suri, Deepti and Ayvaz, Deniz Cagdas and Peláez, Dioselina and da Silva, Edson Elias and Deordieva, Ekaterina and Pérez-Sánchez, Elda Edith and Ulusoy, Ezgi and Dogu, Figen and Seminario, Gisela and Cuzcanci, Hacer and Triki, Hinda and Shimizu, Hiroyuki and Tezcan, Ilhan and Ben-Mustapha, Imen and Sun, Jinqiao and Mazzucchelli, Juliana T. Lessa and Orrego, Julio César and Pac, Malgorzata and Bolkov, Mikhail and Giraldo, Mónica and Belhaj-Hmida, Nabil and Mekki, Najla and Kuzmenko, Natalia and Karaca, Neslihan E and Rezaei, Nima and Diop, Ousmane Madiagne and Baris, Safa and Chan, Sau Man and Shahmahmoodi, Shohreh and Haskologlu, Sule and Ying, Wenjing and Wang, Ying and Barbouche, Mohamed-Ridha and McKinlay, Mark A and JMF Centers Network Investigators and JMF Centers Network Investigators and Study Collaborators and The JMF Centers Network Investigators and Study Collaborators
Frontiers in Immunology, ISSN 1664-3224, 06/2017, Volume 8, pp. 685 - 685
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2016, Volume 36, Issue 1, pp. 56 - 65
Journal Article
Journal Article