1. Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015. J Clin Immunol. 2015; 35:696–726.
2. Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, et al. Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol. 2011; 31:968–976.
Article
3. Rhim JW, Kim KH, Kim DS, Kim BS, Kim JS, Kim CH, et al. Prevalence of primary immunodeficiency in Korea. J Korean Med Sci. 2012; 27:788–793.
Article
4. Kobrynski L, Powell RW, Bowen S. Prevalence and morbidity of primary immunodeficiency diseases, United States 2001–2007. J Clin Immunol. 2014; 34:954–961.
Article
5. Grimbacher B. ESID Registry Working Party. The European Society for Immunodeficiencies (ESID) registry 2014. Clin Exp Immunol. 2014; 178:Suppl 1. 18–20.
Article
7. Rae W, Ward D, Mattocks C, Pengelly RJ, Eren E, Patel SV, et al. Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. Clin Genet. 2018; 93:647–655.
Article
8. Bisgin A, Boga I, Yilmaz M, Bingol G, Altintas D. The utility of next-generation sequencing for primary immunodeficiency disorders: experience from a clinical diagnostic laboratory. BioMed Res Int. 2018; 2018:9647253.
Article
9. Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, et al. Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017; 139:232–245.
10. Maffucci P, Filion CA, Boisson B, Itan Y, Shang L, Casanova JL, et al. Genetic diagnosis using whole exome sequencing in common variable immunodeficiency. Front Immunol. 2016; 7:220.
Article
11. Fleisher TA, Madkaikar M, Rosenzweig SD. Application of flow cytometry in the evaluation of primary immunodeficiencies. Indian J Pediatr. 2016; 83:444–449.
Article
12. Song SM, Park MR, Kim DS, Kim J, Kim YJ, Ki CS, et al. Identification of a novel mutation in the CYBB gene, p.Asp378Gly, in a patient with X-linked chronic granulomatous disease. Allergy Asthma Immunol Res. 2014; 6:366–369.
Article
13. Huh HJ, Jhun BW, Choi SR, Kim YJ, Yun SA, Nham E, et al. Bronchiectasis and recurrent respiratory infections with a de novo STAT1 gain-of-function variant: first case in Korea. Yonsei Med J. 2018; 59:1004–1007.
14. Morbach H, Eichhorn EM, Liese JG, Girschick HJ. Reference values for B cell subpopulations from infancy to adulthood. Clin Exp Immunol. 2010; 162:271–279.
Article
15. Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, et al. Flow cytometry-based diagnosis of primary immunodeficiency diseases. Allergol Int. 2018; 67:43–54.
Article
16. Fischer A, Le Deist F, Hacein-Bey-Abina S, André-Schmutz I, Basile Gde S, de Villartay JP, et al. Severe combined immunodeficiency. A model disease for molecular immunology and therapy. Immunol Rev. 2005; 203:98–109.
Article
17. Luk AD, Lee PP, Mao H, Chan KW, Chen XY, Chen TX, et al. Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency. Front Immunol. 2017; 8:808.
Article
18. Gathmann B, Grimbacher B, Beauté J, Dudoit Y, Mahlaoui N, Fischer A, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008. Clin Exp Immunol. 2009; 157:Suppl 1. 3–11.
Article
19. Fischer A. Severe combined immunodeficiencies (SCID). Clin Exp Immunol. 2000; 122:143–149.
Article
20. Yu GP, Nadeau KC, Berk DR, de Saint Basile G, Lambert N, Knapnougel P, et al. Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. Pediatr Transplant. 2011; 15:733–741.
Article
21. Yi ES, Choi YB, Lee NH, Lee JW, Sung KW, Koo HH, et al. Allogeneic hematopoietic cell transplantation in patients with primary immunodeficiencies in Korea: eleven-year experience in a single center. J Clin Immunol. 2018; 38:757–766.
Article
22. Abraham RS, Aubert G. Flow cytometry, a versatile tool for diagnosis and monitoring of primary immunodeficiencies. Clin Vaccine Immunol. 2016; 23:254–271.
Article
23. Marcondes NA, Fernandes FB, Spindler BM, Faulhaber GA. Flow cytometry assessment of intracellular BTK expression. Cytometry B Clin Cytom. 2018; 94:568.
Article
24. Kim HY, Kim HJ, Ki CS, Kim DW, Yoo KH, Kang ES. Rapid determination of chimerism status using dihydrorhodamine assay in a patient with X-linked chronic granulomatous disease following hematopoietic stem cell transplantation. Ann Lab Med. 2013; 33:288–292.
Article
25. Yu JE, Azar AE, Chong HJ, Jongco AM 3rd, Prince BT. Considerations in the diagnosis of chronic granulomatous disease. J Pediatric Infect Dis Soc. 2018; 7:S6–11.
Article
26. Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol. 2012; 12:616–622.
Article
27. Li P, Huang P, Yang Y, Hao M, Peng H, Li F. Updated understanding of autoimmune lymphoproliferative syndrome (ALPS). Clin Rev Allergy Immunol. 2016; 50:55–63.
Article
28. Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, et al. Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J Leukoc Biol. 2014; 95:667–676.
Article
29. Avery DT, Kane A, Nguyen T, Lau A, Nguyen A, Lenthall H, et al. Germline-activating mutations in PIK3CD compromise B cell development and function. J Exp Med. 2018; 215:2073–2095.
30. Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010; 116:e35–40.
Article
31. Bernardo I, Mancebo E, Aguiló I, Anel A, Allende LM, Guerra-Vales JM, et al. Phenotypic and functional evaluation of CD3+CD4-CD8- T cells in human CD8 immunodeficiency. Haematologica. 2011; 96:1195–1203.
Article
32. Ogonek J, Kralj Juric M, Ghimire S, Varanasi PR, Holler E, Greinix H, et al. Immune reconstitution after allogeneic hematopoietic stem cell transplantation. Front Immunol. 2016; 7:507.
Article
33. Rao VK. Approaches to managing autoimmune cytopenias in novel immunological disorders with genetic underpinnings like autoimmune lymphoproliferative syndrome. Front Pediatr. 2015; 3:65.
Article
34. Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015; 349:436–440.
35. Lee S, Moon JS, Lee CR, Kim HE, Baek SM, Hwang S, et al. Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. J Allergy Clin Immunol. 2016; 137:327–330.
36. Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol. 2013; 33:1–7.
Article
37. Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007; 27:517–524.
Article
38. Lim DL, Thong BY, Ho SY, Shek LP, Lou J, Leong KP, et al. Primary immunodeficiency diseases in Singapore--the last 11 years. Singapore Med J. 2003; 44:579–586.