{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T22:21:49Z","timestamp":1790461309997,"version":"4.1.0"},"reference-count":53,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T00:00:00Z","timestamp":1657238400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott\u2013Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.<\/jats:p>","DOI":"10.3389\/fimmu.2022.883446","type":"journal-article","created":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T02:54:14Z","timestamp":1657248854000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":13,"title":["Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity"],"prefix":"10.3389","volume":"13","author":[{"given":"Koon-Wing","family":"Chan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung-Yin","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Leung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingtian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna F. S.","family":"Fok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscilla H. S.","family":"Mak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huawei","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaodong","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiling","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surjit","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed-Ridha","family":"Barbouche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Xin","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Ping","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Woei-Kang","family":"Liew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minh Huong Thi","family":"Le","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dina","family":"Muktiarti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima Johanna","family":"Santos-Ocampo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reda","family":"Djidjik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brahim","family":"Belaid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Intan Hakimah","family":"Ismail","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir Hamzah","family":"Abdul Latiff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Way Seah","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tong-Xin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinrong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Runming","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaochuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin Hsiu","family":"Chien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin-Hui","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinesh","family":"Raj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Revathi","family":"Raj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenifer","family":"Vaughan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Urban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia van den","family":"Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Eley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anselm Chi-Wai","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mas Suhaila","family":"Isa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth Y.","family":"Ang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bee Wah","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allen Eng Juh","family":"Yeoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynette P.","family":"Shek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Ngoc","family":"Quynh Le","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Van Anh Thi","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anh","family":"Phan Nguyen Lien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina D.","family":"Capulong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne Michelle","family":"Mallillin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Carlo Miguel M.","family":"Villanueva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karol Anne B.","family":"Camonayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle De","family":"Vera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxanne J.","family":"Casis-Hao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rommel Crisenio M.","family":"Lobo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruby","family":"Foronda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicky Wee Eng","family":"Binas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soraya","family":"Boushaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Kechout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gun","family":"Phongsamart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siriporn","family":"Wongwaree","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chamnanrua","family":"Jiratchaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mongkol","family":"Lao-Araya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muthita","family":"Trakultivakorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narissara","family":"Suratannon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orathai","family":"Jirapongsananuruk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teerapol","family":"Chantveerawong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasu","family":"Kamchaisatian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee Lee","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mia Tuang","family":"Koh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke Juin","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siew Moy","family":"Fong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meow-Keong","family":"Thong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zarina Abdul","family":"Latiff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lokman Mohd","family":"Noh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajiva de","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zineb","family":"Jouhadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khulood","family":"Al-Saad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pandiarajan","family":"Vignesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankur Kumar","family":"Jindal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Rawat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anju","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Suri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine Yuen-Ling","family":"Au","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janette Siu-Yin","family":"Kwok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siu-Yuen","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayland Yuk-Fun","family":"Hui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert T.","family":"Chua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime Rosa","family":"Duque","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai-Ning","family":"Cheong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick Chun Yin","family":"Chong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco Hok Kung","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsz-Leung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilfred Hing-Sang","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanling","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela P.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenwei","family":"Tu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi-Qiang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu Lung","family":"Lau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,7,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1007\/s10875-019-00737-x","article-title":"Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee","volume":"40","author":"Tangye","year":"2020","journal-title":"J Clin Immunol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1007\/s10875-020-00758-x","article-title":"Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification","volume":"40","author":"Bousfiha","year":"2020","journal-title":"J Clin Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"3293","DOI":"10.1016\/j.jaip.2021.05.004","article-title":"A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency","volume":"9","author":"Knight","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s12016-021-08838-5","article-title":"Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives","volume":"61","author":"Vorsteveld","year":"2021","journal-title":"Clin Rev Allergy Immunol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2020.11.044","article-title":"The New \"Wholly Trinity\" in the Diagnosis and Management of Inborn Errors of Immunity","volume":"9","author":"Abraham","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.01605","article-title":"Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific","volume":"111605","author":"Leung","year":"2020","journal-title":"Front Immunol"},{"key":"B7","doi-asserted-by":"crossref","DOI":"10.1182\/blood.V88.10.4021.bloodjournal88104021","article-title":"Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease","volume":"88","author":"Hui","year":"1996","journal-title":"Blood"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1086\/517036","article-title":"The role of phagocytic respiratory burst in host defense against Mycobacterium tuberculosis","volume":"26","author":"Lau","year":"1998","journal-title":"Clin Infect Dis"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957573","article-title":"Defective B-cell and regulatory T-cell function in Wiskott-Aldrich syndrome","volume":"151","author":"Lau","year":"1992","journal-title":"Eur J Pediatr"},{"key":"B10","article-title":"Mixed chimerism following bone marrow transplantation for severe combined immunodeficiency: a study by DNA fingerprinting and simultaneous immunophenotyping and fluorescence in situ hybridisation","volume":"15","author":"Lau","year":"1995","journal-title":"Bone Marrow Transplant"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.1991.tb05705.x","article-title":"Defective neutrophil and lymphocyte function in leucocyte adhesion deficiency","volume":"85","author":"Lau","year":"1991","journal-title":"Clin Exp Immunol"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1991.tb00399.x","article-title":"Chronic granulomatous disease: a different pattern in Hong Kong","volume":"27","author":"Lau","year":"1991","journal-title":"J Paediatr Child Health"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1992.tb02703.x","article-title":"Takayasu's arteritis associated with Wiskott-Aldrich syndrome","volume":"28","author":"Lau","year":"1992","journal-title":"J Paediatr Child Health"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1093\/clinids\/20.1.197","article-title":"Invasive Acremonium falciforme infection in a patient with severe combined immunodeficiency","volume":"20","author":"Lau","year":"1995","journal-title":"Clin Infect Dis"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5699(96)30060-1","article-title":"X-CGDbase: a database of X-CGD-causing mutations","volume":"17","author":"Roos","year":"1996","journal-title":"Immunol Today"},{"key":"B16","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1002\/(SICI)1098-1004(1999)13:6<507::AID-HUMU21>3.0.CO;2-8","article-title":"An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott-Aldrich Syndrome","volume":"13","author":"Siu-Yuen","year":"1999","journal-title":"Hum Mutat"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<385::AID-HUMU21>3.0.CO;2-D","article-title":"Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia","volume":"15","author":"Yip","year":"2000","journal-title":"Hum Mutat"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1744-313X.2006.00598.x","article-title":"Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing","volume":"33","author":"Chan","year":"2006","journal-title":"Int J Immunogenet"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9048","article-title":"Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome","volume":"20","author":"Chan","year":"2002","journal-title":"Hum Mutat"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1016\/j.anai.2010.05.013","article-title":"A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease","volume":"105","author":"Chang","year":"2010","journal-title":"Ann Allergy Asthma Immunol"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-015-2563-z","article-title":"Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature","volume":"174","author":"Chong","year":"2015","journal-title":"Eur J Pediatr"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-010-9489-z","article-title":"Molecular diagnosis of severe combined immunodeficiency\u2013identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children","volume":"31","author":"Lee","year":"2011","journal-title":"J Clin Immunol"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1097\/INF.0b013e31815b494c","article-title":"Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis","volume":"27","author":"Lee","year":"2008","journal-title":"Pediatr Infect Dis J"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-009-9341-5","article-title":"Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia","volume":"30","author":"Lee","year":"2010","journal-title":"J Clin Immunol"},{"key":"B25","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1007\/s10875-009-9285-9","article-title":"Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome","volume":"29","author":"Lee","year":"2009","journal-title":"J Clin Immunol"},{"key":"B26","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1016\/j.jaci.2013.08.051","article-title":"Penicillium marneffei infection and impaired IFN-gamma immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations","volume":"133","author":"Lee","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2012.8","article-title":"Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease","volume":"13","author":"Mao","year":"2012","journal-title":"Genes Immun"},{"key":"B28","article-title":"A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa","volume":"101","author":"Naidoo","year":"2011","journal-title":"S Afr Med J"},{"key":"B29","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1007\/s10875-013-9963-5","article-title":"Chronic granulomatous disease: two decades of experience from a tertiary care centre in North West India","volume":"34","author":"Rawat","year":"2014","journal-title":"J Clin Immunol"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmii.2012.07.004","article-title":"X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients","volume":"48","author":"Tsai","year":"2015","journal-title":"J Microbiol Immunol Infect"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12553","article-title":"Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency","volume":"88","author":"Yang","year":"2015","journal-title":"Clin Genet"},{"key":"B32","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1007\/s10875-019-00706-4","article-title":"Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families","volume":"40","author":"Ben-Ali","year":"2020","journal-title":"J Clin Immunol"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2015.09.011","article-title":"Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia","volume":"161","author":"Boushaki","year":"2015","journal-title":"Clin Immunol"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.612323","article-title":"Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India","volume":"11612323","author":"Rawat","year":"2020","journal-title":"Front Immunol"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-017-0382-x","article-title":"Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India","volume":"37","author":"Rawat","year":"2017","journal-title":"J Clin Immunol"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.625320","article-title":"Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India","volume":"12625320","author":"Rawat","year":"2021","journal-title":"Front Immunol"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1016\/j.anai.2016.07.044","article-title":"X-linked agammaglobulinemia: Twenty years of single-center experience from North West India","volume":"117","author":"Singh","year":"2016","journal-title":"Ann Allergy Asthma Immunol"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.627651","article-title":"Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India","volume":"12627651","author":"Suri","year":"2021","journal-title":"Front Immunol"},{"key":"B39","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1016\/j.jaip.2020.11.041","article-title":"Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India","volume":"9","author":"Vignesh","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-016-0366-2","article-title":"Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (NCF2) Gene Mutations in Three Unrelated Families","volume":"37","author":"Vignesh","year":"2017","journal-title":"J Clin Immunol"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.619146","article-title":"Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India","volume":"11619146","author":"Vignesh","year":"2020","journal-title":"Front Immunol"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26196","article-title":"Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome","volume":"64","author":"Vignesh","year":"2017","journal-title":"Pediatr Blood Cancer"},{"key":"B43","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1038\/cmi.2009.51","article-title":"Primary immunodeficiencies: \"new\" disease in an old country","volume":"6","author":"Lee","year":"2009","journal-title":"Cell Mol Immunol"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2011.06225.x","article-title":"Improving care, education, and research: the Asian primary immunodeficiency network","author":"Lee","year":"2011","journal-title":"Ann N Y Acad Sci"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981","article-title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","volume":"37","author":"Den Dunnen","year":"2016","journal-title":"Hum Mutat"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.612703","article-title":"Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India","volume":"11612703","author":"Kambli","year":"2020","journal-title":"Front Immunol"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20413","article-title":"Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase","volume":"27","author":"Roos","year":"2006","journal-title":"Hum Mutat"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0907206","article-title":"Inflammatory bowel disease and mutations affecting the interleukin-10 receptor","volume":"361","author":"Glocker","year":"2009","journal-title":"N Engl J Med"},{"key":"B49","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1016\/j.jaci.2017.04.037","article-title":"Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia","volume":"140","author":"Ben-Ali","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"B50","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/j.jaci.2017.10.026","article-title":"RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease","volume":"142","author":"Mao","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"B51","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanwpc.2020.100001","article-title":"Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs","volume":"1100001","author":"Chung","year":"2020","journal-title":"Lancet Reg Health West Pac"},{"key":"B52","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.jaci.2019.09.009","article-title":"Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology","volume":"145","author":"Chinn","year":"2020","journal-title":"J Allergy Clin Immunol"},{"key":"B53","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2017.00808","article-title":"Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency","volume":"8808","author":"Luk","year":"2017","journal-title":"Front Immunol"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2022.883446\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T02:54:23Z","timestamp":1657248863000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2022.883446\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,8]]},"references-count":53,"alternative-id":["10.3389\/fimmu.2022.883446"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2022.883446","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,8]]},"article-number":"883446"}}