Access the full text.
Sign up today, get DeepDyve free for 14 days.
J. Chong, S. Jamuar, C. Ong, K. Thoon, E. Tan, Angeline Lai, Mark Aan, W. Tan, R. Foo, E. Tan, Y. Lau, W. Liew (2015)
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literatureEuropean Journal of Pediatrics, 174
O. Alsmadi, A. Al-ghonaium, S. Al‐Muhsen, R. Arnaout, H. Al-Dhekri, B. Al-Saud, Fadi Al-Kayal, H. Al-Saud, H. Al-Mousa (2009)
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi ArabiaBMC Medical Genetics, 10
M. Conley, A. Broides, V. Hernandez-Trujillo, V. Howard, H. Kanegane, T. Miyawaki, S. Shurtleff (2005)
Genetic analysis of patients with defects in early B‐cell developmentImmunological Reviews, 203
M. Al-Mofareh, M. Ayas, A. Al-Seraihy, K. Siddiqui, A. Al-Jefri, I. Ghemlas, H. AlSaedi, H. El-Solh, S. Al-Sweedan, B. Al-Saud, H. Al-Mousa, H. Al-Dhekri, R. Arnaout, R. Mohammed, S. Al‐Muhsen, A. Al-Ahmari (2020)
Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patientsBone Marrow Transplantation
Michael Seleman, R. Hoyos-Bachiloglu, R. Geha, J. Chou (2017)
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary ImmunodeficienciesFrontiers in Immunology, 8
P. Agudelo-Flórez, B. Costa-Carvalho, Juan Lopez, Jussara Redher, P. Newburger, S. Olalla-Saad, A. Condino-Neto (2004)
Association of glucose‐6‐phosphate dehydrogenase deficiency and X‐linked chronic granulomatous disease in a child with anemia and recurrent infectionsAmerican Journal of Hematology, 75
W. Al-Herz, J. Chou, O. Delmonte, M. Massaad, Wayne Bainter, R. Castagnoli, C. Klein, Y. Bryceson, R. Geha, L. Notarangelo (2019)
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous PopulationFrontiers in Immunology, 9
James Thaventhiran, Hana Allen, O. Burren, W. Rae, D. Greene, E. Staples, Zinan Zhang, J. Farmery, Ilenia Simeoni, E. Rivers, J. Maimaris, C. Penkett, J. Stephens, Sri Deevi, Alba Sanchis-Juan, Nicholas Gleadall, Moira Thomas, R. Sargur, Pavels Gordins, H. Baxendale, Matthew Brown, P. Tuijnenburg, A. Worth, S. Hanson, R. Linger, M. Buckland, Paula Rayner-Matthews, K. Gilmour, C. Samarghitean, S. Seneviratne, D. Sansom, A. Lynch, K. Megy, E. Ellinghaus, D. Ellinghaus, S. Jørgensen, T. Karlsen, K. Stirrups, A. Cutler, D. Kumararatne, Anita Chandra, J. Edgar, A. Herwadkar, Nichola Cooper, S. Grigoriadou, A. Huissoon, S. Goddard, S. Jolles, C. Schuetz, F. Boschann, Stephen A, S. Abbs, Z. Adhya, J. Adlard, M. Afzal, I. Ahmed, Munaza Ahmed, Saeed Ahmed, T. Aitman, H. Alachkar, J. Alamelu, R. Alikhan, C. Allen, L. Allen, D. Allsup, Arif Alvi, G. Ambegaonkar, A. Anantharachagan, P. Ancliff, Julie Anderson, R. Antrobus, R. Armstrong, G. Arno, G. Arumugakani, R. Arya, Sofie Ashford, W. Astle, A. Attwood, S. Austin, Y. Aydinok, W. Ayub, C. Babbs, C. Bacchelli, T. Baglin, T. Bakchoul, T. Bariana, J. Barratt, J. Barwell, John Baski, R. Bates, Joana Batista, G. Baynam, David Bennett, C. Bethune, N. Bhatnagar, Shahnaz Bibi, Agnieszka Bierzynska, T. Biss, M. Bitner-Glindzicz, M. Bleda, Iulia Blesneac, Barbara Boardman, P. Boddana, H. Bogaard, C. Booth, S. Boyce, J. Bradley, A. Brady, G. Breen, P. Brennan, C. Brewer, A. Briley, Richard Brown, M. Browning, M. Brownlie, Christine Bryson, R. Buchan, J. Buck, M. Buckland, T. Bueser, Carmen Diz, S. Burns, P. Calleja, J. Carmichael, G. Carr-White, Keren Carss, R. Casey, E. Chalmers, Jenny Chambers, John Chambers, M. Chan, Melissa Chan, F. Cheng, I. Chinn, P. Chinnery, M. Chitre, S. Chong, M. Christian, C. Church, E. Clement, Naomi Brod, H. Clifford, V. Clowes, G. Coghlan, Elizabeth Colby, T. Cole, J. Collins, Peter Collins, R. Condliffe, H. Cook, S. Cook, V. Cookson, P. Corris, A. Creaser-Myers, Abigail Crisp-Hihn, N. Curry, Rosa Costa, C. Danesino, M. Daniels, D. Darby, L. Daugherty, E. Davies, Sophie Davies, John Davis, G. Bree, S. Deacock, P. Deegan, Sri Deevi, J. Dempster, Timothy Dent, C. Deshpande, L. Devlin, Eleanor Dewhurst, A. Dixit, P. Dixon, R. Doffinger, H. Dolling, N. Dormand, K. Downes, A. Drazyk, E. Drewe, Daniel Duarte, T. Dutt, Karen Edwards, W. Egner, Melanie Ekani, T. El-shanawany, S. Elkhalifa, T. Elston, I. Emmerson, W. Erber, M. Erwood, M. Estiú, D. Evans, G. Evans, T. Everington, M. Eyries, R. Favier, H. Firth, Maggie Fitzpatrick, Debra Fletcher, F. Flinter, James Fox, A. Frary, Courtney French, K. Freson, M. Frontini, B. Furie, D. Gale, H. Gall, A. Gardham, H. Gaspar, M. Gattens, N. Ghali, P. Ghataorhe, S. Ghio, H. Ghofrani, Rohit Ghurye, J. Gibbs, R. Gilbert, B. Girerd, J. Girling, P. Gissen, K. Gorman, D. Gosal, S. Graf, L. Grassi, A. Greenhalgh, L. Greenhalgh, A. Greinacher, P. Gresele, P. Griffiths, S. Griffiths, D. Grozeva, S. Hackett, R. Hadden, C. Hadinnapola, R. Hague, W. Hague, M. Haimel, M. Hall, Csaba Halmagyi, Tracey Hammerton, H. Hanson, K. Harkness, A. Harper, L. Harper, Claire Harris, C. Harrison, D. Hart, Ahamad Hassan, G. Hayman, J. Heemskerk, S. Hegde, A. Henderson, R. Henderson, A. Hensiek, Y. Henskens, J. Hodgson, Jonathan Hoffman, S. Holden, M. Holder, R. Horvath, H. Houlden, A. Houweling, L. Howard, Fengyuan Hu, G. Hudson, Sean Hughes, Stephen Hughes, A. Veld, M. Humbert, M. Hurles, J. Hurst, V. Irvine, L. Izatt, R. James, P. Jeevaratnam, M. Johnson, Sally Johnson, J. Jolley, Bryony Jones, Julie Jones, D. Josifova, N. Jurkute, Yousuf Karim, M. Karoshi, Mary Kasanicki, H. Kazkaz, R. Kazmi, D. Keeling, P. Kelleher, A. Kelly, Carly Kempster, F. Kennedy, S. Kiani, D. Kiely, N. Kingston, S. Kinsey, N. Klein, R. Klima, E. Knox, Myrto Kostadima, G. Kovacs, A. Koziell, Roman Kreuzhuber, D. Krishnakumar, T. Kuijpers, Ajith Kumar, M. Kurian, J. Laffan, M. Laffan, F. Lalloo, Michele Lambert, Hana Allen, S. Lawman, A. Lawrie, D. Layton, S. Lear, M. Lees, Claire Lentaigne, A. Levine, A. Lewington, Wei Li, R. Liesner, B. Liu, H. Longhurst, Lorena Lorenzo, E. Louka, Silvia Hadeler, Paul Lyons, M. Macdougall, R. Machado, Robert Ross, L. Mackillop, R. MacLaren, B. Madan, Laura Magee, M. Mahdi-Rogers, E. Maher, M. Makris, S. Mangles, A. Manson, A. Manzur, R. Mapeta, K. Marchbank, P. Mark, S. Marks, H. Markus, H. Marschall, Andrew Marshall, Jennifer Martin, Larahmie Masati, M. Mathias, Vera Matser, E. Matthews, A. Maw, H. Maxwell, P. Mcalinden, Mark McCarthy, E. McDermott, S. McGowan, Coleen McJannet, H. McKinney, Stuart Meacham, A. Mead, Ignacio Castelló, S. Meehan, K. Megy, S. Mehta, C. Mercer, M. Michaelides, Anna Michell, D. Milford, C. Millar, H. Millar, A. Mistry, F. Moenen, S. Moledina, D. Montani, A. Moore, Jason Moore, N. Morrell, Valerie Morrisson, M. Mozere, K. Muir, A. Mumford, S. Murng, Iman Nasir, S. Nejentsev, M. Newnham, J. Ng, A. Ngoh, S. Noorani, M. Noori, P. Nurden, J. O'Sullivan, S. Obaji, S. Okoli, É. Oksenhendler, A. Olschewski, H. Olschewski, A. Ong, K. Ong, Helen Oram, E. Ormondroyd, Shokri Othman, W. Ouwehand, A. Pantazis, S. Papadia, A. Papandreou, Soo-Mi Park, A. Parker, D. Parry, Georgina Parsons, K. Pasi, J. Paterson, J. Payne, A. Peacock, K. Peerlinck, C. Penkett, J. Pepke-Zaba, D. Perry, Romina Petersen, B. Piechowski-Jóźwiak, F. Pinto, Gary Polwarth, Mark Ponsford, S. Prasad, I. Prokopenko, B. Psaila, A. Pyle, W. Qasim, Ellen Quinn, I. Quinti, S. Raina, Lavanya Ranganathan, J. Rankin, Stuart Rankin, A. Rao, F. Raymond, Karola Rehnstrom, E. Reid, M. Reilly, T. Renton, S. Revel-Vilk, Christopher Rhodes, Andrew Rice, Emma Richards, M. Richards, S. Richardson, A. Richter, L. Robert, I. Roberts, M. Rondina, E. Rosser, P. Rothwell, Catherine Roughley, N. Roy, Kevin Rue-Albrecht, O. Sadeghi-Alavijeh, M. Saleem, R. Salmon, N. Samani, J. Sambrook, R. Sandford, S. Santra, S. Satchell, S. Savic, L. Scelsi, Gwen Schotte, Sol Schulman, H. Schulze, R. Scott, M. Scully, C. Searle, W. Seeger, W. Sewell, Denis Seyres, F. Shackley, O. Shamardina, S. Shapiro, Pankaj Sharma, H. Shehata, Deborah Shipley, R. Shtoyerman, Keith Sibson, L. Side, Michael Simpson, Matthew Sims, M. Sinha, S. Sivapalaratnam, A. Skytte, Kenneth Smith, K. Snape, L. Sneddon, A. Sohal, F. Soubrier, L. Southgate, M. Southwood (2018)
Whole genome sequencing of a sporadic primary immunodeficiency cohortNature, 583
S. Tangye, W. Al-Herz, A. Bousfiha, T. Chatila, C. Cunningham-Rundles, Amos Etzioni, J. Franco, S. Holland, C. Klein, T. Morio, H. Ochs, É. Oksenhendler, C. Picard, J. Puck, T. Torgerson, J. Casanova, K. Sullivan (2020)
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert CommitteeJournal of Clinical Immunology, 40
F. Rudilla, C. Franco-Jarava, M. Martínez-Gallo, M. García-Prat, A. Martín-Nalda, Jacques Rivière, Aina Aguiló-Cucurull, L. Mongay, F. Vidal, X. Solanich, I. Irastorza, Juan Santos-Perez, J. Sánchez, I. Cuscó, Clara Serra, Noelia Baz-Redón, M. Fernández-Cancio, C. Carreras, J. Vagace, V. García-Patos, R. Pujol-Borrell, P. Soler-Palacín, R. Colobran (2019)
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected FindingsFrontiers in Immunology, 10
Hemmo Yska, Kim Elsink, T. Kuijpers, G. Frederix, M. Gijn, J. Montfrans (2019)
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic ReviewJournal of Clinical Immunology, 39
K. Moradkhani, C. Mekki, M. Bahuau, V. Te, M. Holder, S. Pissard, C. Préhu, C. Rose, H. Wajcman, F. Galactéros (2012)
Practical approach for characterization of glucose 6‐phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: Description of seven new G6PD mutantsAmerican Journal of Hematology, 87
Rungnapa Ittiwut, Kunlapat Sengpanich, Supanun Lauhasurayotin, C. Ittiwut, V. Shotelersuk, D. Sosothikul, K. Suphapeetiporn (2020)
Clinical and molecular characteristics of Thai patients with ELANE-related neutropaeniaJournal of Clinical Pathology
J. Heimall, D. Hagin, J. Hajjar, S. Henrickson, H. Hernandez-Trujillo, Yuval Tan, L. Kobrynski, K. Paris, T. Torgerson, J. Verbsky, R. Wasserman, E. Hsieh, Jack Blessing, J. Chou, M. Lawrence, R. Marsh, S. Rosenzweig, J. Orange, R. Abraham (2018)
Use of Genetic Testing for Primary Immunodeficiency PatientsJournal of Clinical Immunology, 38
R. Castagnoli, O. Delmonte, Enrica Calzoni, L. Notarangelo (2019)
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future PerspectivesFrontiers in Pediatrics, 7
A. Bousfiha, L. Jeddane, C. Picard, W. Al-Herz, F. Ailal, T. Chatila, C. Cunningham-Rundles, Amos Etzioni, J. Franco, S. Holland, C. Klein, T. Morio, H. Ochs, É. Oksenhendler, J. Puck, T. Torgerson, J. Casanova, K. Sullivan, S. Tangye (2020)
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical ClassificationJournal of Clinical Immunology, 40
A. Gennery, A. Lankester (2019)
Long Term Outcome and Immune Function After Hematopoietic Stem Cell Transplantation for Primary ImmunodeficiencyFrontiers in Pediatrics, 7
G. Bucciol, E. Nieuwenhove, Leen Moens, Y. Itan, I. Meyts (2017)
Whole exome sequencing in inborn errors of immunity: use the power but mind the limitsCurrent Opinion in Allergy and Clinical Immunology, 17
S. Minakawa, H. Tanaka, T. Kaneko, Y. Matsuzaki, M. Kono, Masashi Akiyama, Yoshiyuki Minegishi, Daisuke Sawamura (2016)
Hyper‐IgE syndrome with a novel mutation of the STAT3 geneClinical and Experimental Dermatology, 41
C. Cifaldi, Alessia Scarselli, D. Petricone, S. Cesare, M. Chiriacò, A. Claps, P. Rossi, Enrica Calzoni, Y. Yamazaki, L. Notarangelo, G. Matteo, C. Cancrini, A. Finocchi (2016)
Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.Clinical immunology, 173
I. Meyts, B. Bosch, A. Bolze, B. Boisson, Y. Itan, A. Belkadi, V. Pedergnana, Leen Moens, C. Picard, A. Cobat, X. Bossuyt, L. Abel, J. Casanova (2016)
Exome and genome sequencing for inborn errors of immunity.The Journal of allergy and clinical immunology, 138 4
C. Platt, R. Geha, J. Chou (2014)
Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies.The Journal of allergy and clinical immunology, 134 2
D. Doğruel, M. Serbes, Ayşe Şaşihüseyinoğlu, Mustafa Yilmaz, D. Altintas, A. Bişgin (2019)
Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.Allergologia et immunopathologia, 47 1
C. Woellner, E. Gertz, A. Schäffer, M. Lagos, M. Perro, E. Glocker, M. Pietrogrande, F. Cossu, J. Franco, N. Matamoros, B. Pietrucha, E. Heropolitańska-Pliszka, M. Yeganeh, M. Moin, T. Español, S. Ehl, A. Gennery, M. Abinun, A. Bręborowicz, T. Niehues, S. Kilic, A. Junker, S. Turvey, A. Plebani, B. Sánchez, B. Garty, C. Pignata, C. Cancrini, J. Litzman, Ö. Sanal, U. Baumann, R. Bacchetta, A. Hsu, Joie Davis, L. Hammarström, E. Davies, E. Eren, P. Arkwright, J. Moilanen, D. Viemann, Sujoy Khan, L. Maródi, A. Cant, A. Freeman, J. Puck, S. Holland, B. Grimbacher (2010)
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.The Journal of allergy and clinical immunology, 125 2
Dongling Liu, Xijiang Hu, Xiwen Jiang, B. Gao, C. Wan, Changying Chen (2017)
Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLHBMC Medical Genetics, 18
Ulrich Siler, Susana Romão, Emilio Tejera, O. Pastukhov, E. Kuzmenko, Rocio Valencia, Virginia Spaccamela, B. Belohradsky, O. Speer, M. Schmugge, E. Kohne, M. Hoenig, J. Freihorst, A. Schulz, J. Reichenbach (2017)
Severe glucose‐6‐phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosisThe Journal of Allergy and Clinical Immunology, 139
L. Notarangelo, T. Fleisher (2017)
Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.The Journal of allergy and clinical immunology, 139 3
Athipat Athipongarporn, C. Ittiwut, Wiparat Manuyakorn, Surapat Assawawiroonhakarn, N. Larbcharoensub, V. Shotelersuk (2020)
Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.Pediatric Infectious Disease Journal
A. Bousfiha, L. Jeddane, C. Picard, F. Ailal, H. Gaspar, W. Al-Herz, T. Chatila, Y. Crow, Y. Crow, C. Cunningham-Rundles, A. Etzioni, J. Franco, S. Holland, C. Klein, T. Morio, H. Ochs, É. Oksenhendler, J. Puck, M. Tang, M. Tang, S. Tangye, S. Tangye, T. Torgerson, J. Casanova, K. Sullivan (2017)
The 2017 IUIS Phenotypic Classification for Primary ImmunodeficienciesJournal of Clinical Immunology, 38
P. Arts, A. Simons, M. Alzahrani, Elanur Yilmaz, Eman AlIdrissi, K. Aerde, Njood Alenezi, Hamza AlGhamdi, Hadeel AlJubab, Abdulrahman Al-Hussaini, Fahad Almanjomi, Alaa Alsaad, Badr Alsaleem, Abdulrahman Andijani, A. Asery, Walid Ballourah, C. Bleeker‐Rovers, M. Deuren, M. Flier, Erica Gerkes, C. Gilissen, Murad Habazi, J. Hehir-Kwa, S. Henriet, E. Hoppenreijs, Sarah Hortillosa, C. Kerkhofs, Riikka Keski‐Filppula, Stefan Lelieveld, K. Lone, M. Mackenzie, A. Mensenkamp, J. Moilanen, M. Nelen, J. Oever, J. Potjewijd, P. Paassen, J. Schuurs-Hoeijmakers, A. Simon, T. Stokowy, M. Vorst, M. Vreeburg, A. Wagner, Gijs Well, Dimitra Zafeiropoulou, E. Zonneveld-Huijssoon, J. Veltman, W. Zelst-Stams, E. Faqeih, F. Veerdonk, M. Netea, A. Hoischen (2019)
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficienciesGenome Medicine, 11
B. Saikia, A. Rawat, R. Minz, D. Suri, V. Pandiarajan, A. Jindal, Smrity Sahu, A. Karim, M. Desai, Prasad Taur, A. Pandrowala, V. Gowri, M. Madkaikar, A. Dalvi, R. Yadav, H. Lashkari, Revathi Raj, R. Uppuluri, V. Swaminathan, S. Bhattad, G. Cyril, H. Kumar, Anuj Shukla, M. Kalra, G. Govindaraj, Surjit Singh (2021)
Clinical Profile of Hyper-IgE Syndrome in IndiaFrontiers in Immunology, 12
E. Pronicka, D. Piekutowska-Abramczuk, E. Ciara, J. Trubicka, D. Rokicki, A. Karkucińska-Więckowska, M. Pajdowska, E. Jurkiewicz, P. Halat, J. Kosińska, A. Pollak, M. Rydzanicz, P. Stawiński, M. Pronicki, M. Krajewska-Walasek, R. Płoski (2016)
New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centreJournal of Translational Medicine, 14
Noa Greenberg-Kushnir, Y. Lee, A. Simon, A. Lev, Nufar Marcus, O. Abuzaitoun, R. Somech, T. Stauber (2019)
A Large Cohort of RAG1/2-Deficient SCID Patients—Clinical, Immunological, and Prognostic AnalysisJournal of Clinical Immunology, 40
A. Stray-Pedersen, H. Sorte, P. Samarakoon, T. Gambin, I. Chinn, Zeynep Akdemir, H. Erichsen, L. Forbes, Shen Gu, Bo Yuan, S. Jhangiani, D. Muzny, O. Rødningen, Y. Sheng, S. Nicholas, L. Noroski, F. Seeborg, C. Davis, D. Canter, E. Mace, T. Vece, C. Allen, H. Abhyankar, Philip Boone, C. Beck, W. Wiszniewski, B. Fevang, P. Aukrust, G. Tjønnfjord, T. Gedde-Dahl, H. Hjorth-Hansen, I. Dybedal, I. Nordøy, S. Jørgensen, T. Abrahamsen, Torstein Øverland, A. Bechensteen, V. Skogen, L. Osnes, M. Kulseth, T. Prescott, C. Rustad, K. Heimdal, J. Belmont, N. Rider, J. Chinen, Tram Cao, Eric Smith, M. Caldirola, L. Bezrodnik, S. Reyes, F. Rosales, Nina Guerrero-Cursaru, L. Pedroza, Cecilia Poli, J. Franco, C. Vargas, J. Becerra, N. Wright, T. Issekutz, A. Issekutz, J. Abbott, J. Caldwell, D. Bayer, Alice Chan, A. Aiuti, C. Cancrini, E. Holmberg, C. West, Magnus Burstedt, E. Karaca, G. Yeşil, H. Artaç, Y. Bayram, M. Atik, M. Eldomery, Mohammad Ehlayel, S. Jolles, B. Flatø, A. Bertuch, I. Hanson, V. Zhang, L. Wong, Jianhong Hu, M. Walkiewicz, Yaping Yang, C. Eng, E. Boerwinkle, R. Gibbs, W. Shearer, R. Lyle, J. Orange, J. Lupski (2017)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersThe Journal of Allergy and Clinical Immunology, 139
Yan Sun, Fengxia Liu, C. Fan, Yaoshen Wang, Lijie Song, Zhonghai Fang, R. Han, Zhonghua Wang, Xiaodan Wang, Ziying Yang, Zhenpeng Xu, Jiguang Peng, C. Shi, Hongyun Zhang, W. Dong, Hui Huang, Yun Li, Yanqun Le, Jun Sun, Zhiyu Peng (2020)
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disordersBMC Medical Genomics, 14
C. Ittiwut, Wiparat Manuyakorn, S. Tongkobpetch, S. Benjaponpitak, M. Fisher, J. Milner, J. Lyons, K. Suphapeetiporn, V. Shotelersuk (2019)
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG InfusionsJournal of Clinical Immunology, 40
Elizabeth Drewe, Richard Powell (2008)
Primary ImmunodeficienciesPediatric Allergy, Asthma and Immunology
Pediatric Allergy and Immunology – Wiley
Published: Jan 1, 2022
Keywords: inborn errors of immunity; next‐generation sequencing; novel variants; primary immunodeficiency diseases; Thai; whole‐exome sequencing
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.