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Journal Article
by Ma, Cindy S., PhD and Wong, Natalie, BSc Hons and Rao, Geetha, MSc and Avery, Danielle T., BApplSci and Torpy, James, MPhil and Hambridge, Thomas, BSc Hons and Bustamante, Jacinta, MD, PhD and Okada, Satoshi, MD, PhD and Stoddard, Jennifer L., BS and Deenick, Elissa K., PhD and Pelham, Simon J., MSc and Payne, Kathryn, BSc Hons and Boisson-Dupuis, Stéphanie, PhD and Puel, Anne, PhD and Kobayashi, Masao, MD, PhD and Arkwright, Peter D., FRCPCH, DPhil and Kilic, Sara Sebnem, MD and El Baghdadi, Jamila, PhD and Nonoyama, Shigeaki, MD, PhD and Minegishi, Yoshiyuki, MD, PhD and Mahdaviani, Seyed Alireza, MD and Mansouri, Davood, MD and Bousfiha, Aziz, MD and Blincoe, Annaliesse K., BHB, MBChB and French, Martyn A., MB ChB, MD, FRACP, FRCPath, FRCP and Hsu, Peter, FRACP, PhD and Campbell, Dianne E., FRACP, PhD and Stormon, Michael O., MBBS, FRACP and Wong, Melanie, MBBS, PhD, FRACP, FRCPA and Adelstein, Stephen, MBBCh, PhD, FRACP, FRCPA and Smart, Joanne M., MBBS, FRACP and Fulcher, David A., MBBS, PhD, FRACP, FRCPA and Cook, Matthew C., MBBS, PhD, FRACP, FRCPA and Phan, Tri Giang, MBBS, PhD, FRACP, FRCPA and Stepensky, Polina, MD and Boztug, Kaan, MD and Kansu, Aydan, MD and İkincioğullari, Aydan, MD and Baumann, Ulrich, MD and Beier, Rita, MD and Roscioli, Tony, FRACP, PhD and Ziegler, John B., MD, FRACP and Gray, Paul, FRACP and Picard, Capucine, MD, PhD and Grimbacher, Bodo, MD and Warnatz, Klaus, MD, PhD and Holland, Steven M., MD and Casanova, Jean-Laurent, MD, PhD and Uzel, Gulbu, MD and Tangye, Stuart G., PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 993 - 1006.e1
Journal Article
by Scott, Eric M and Halees, Anason and Itan, Yuval and Spencer, Emily G and He, Yupeng and Azab, Mostafa Abdellateef and Gabriel, Stacey B and Belkadi, Aziz and Boisson, Bertrand and Abel, Laurent and Clark, Andrew G and Rahim, Sohair Abdel and Alkuraya, Fowzan S and Casanova, Jean-Laurent and Gleeson, Joseph G and Abdou, Mohammed and Abhytankar, Avinash and Adimi, Parisa and Ahmad, Jamil and Akcakus, Mustafa and Aksu, Guside and Al Hajjar, Sami and Al Juamaah, Suliman and Al Muhsen, Saleh and Al Sannaa, Nouriya and Al Tameni, Salem and Al-Aama, Jumana and Al-Allawi, Nasir and Al-Baradie, Raidah and Al-Gazali, Lihadh and Al-Hashem, Amal and Al-Herz, Waleed and Al-Jeaid, Deema and Al-Tawari, Asma and Alangari, Abdullah and Alcais, Alexandre and AlFawaz, Tariq S and Alsum, Zobaida and Ammar-Khodja, Aomar and Amouian, Sepideh and Arikan, Cigdem and Aryani, Omid and Aslanger, Ayca and Aydogmus, Cigdem and Aytekin, Caner and Azam, Matloob and Bansagi, Boglarka and Barbouche, Mohamed-Rhida and Bastaki, Laila and Ben-Omran, Tawfeg and Bindu, Parayil Sankaran and Blancas, Lizbeth and Boisson-Dupuis, Stéphanie and Bonnet, Damien and Stambouli, Omar Boudghene and Bousfiha, Aziz and Boussafara, Lobna and Boutros, Jeannette and Bustamante, Jacinta and Caksen, Huseyin and Camcioglu, Yildiz and Catherinot, Emilie and Celik, Fatma C and Ciancanelli, Michael and Cipe, Funda E and Clark, Gary and Cobat, Aurélie and Comu, Sinan and Condie, Angela and Condino-Neto, Antonio and Desai, Mukesh and Dobyns, William and Dogu, Figen and Domaia, Mohamed and Dorum, Meltem and Egritas, Odul and El Azbaoui, Safa and El Baghdadi, Jamila and El Ruby, Mona and El-Harouni, Ashraf and Elfeky, Reem A and Elghazali, Gehad and Faqeih, Eissa and Fenerci, Elif and Fieschi, Claire and Funda, Cipe and Gamal, Iman and Gelik, Umit and Genel, Fetah and Gezdirici, Alper and Girisha, Katta M and Goldstein, Amy and Grattan-Smith, Padraic and Gupta, Neerja and Hahn, Jin and Hatipoglu, Nevin and Hennekam, Raoul and Houshmand, Massoud and Ichai, Philippe and Ikinciogullari, Aydan and ... and Greater Middle East Variome Consortium
Nature Genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1071 - 1079
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2018, Volume 38, Issue 1, pp. 129 - 143
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has... 
Medical Microbiology | Biomedicine | Immunology | Primary immunodeficiencies | IUIS | Classification | Infectious Diseases | Internal Medicine | Inborn errors of immunity | Phenotypic | DISEASES | IMMUNOLOGY | Immunodeficiency | Hypersensitivity | Malignancy | Original
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
Frontiers in Immunology, ISSN 1664-3224, 2011, Volume 2, pp. 54 - 54
We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological... 
Primary immunodeficiency diseases | Primary Immunodeficiency Diseases
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 232 - 241
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 06/2019, Volume 143, Issue 6, pp. 2215 - 2226.e7
Journal Article