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보통 가변 면역결핍증 (CVID) — 참고문헌 (References)

Common Variable Immunodeficiency · QSP Model Reference List

이 목록의 모든 PMID는 NCBI E-utilities로 조회하여 저자·연도·저널·제목을 확인한 것입니다. 기억에 의존해 적은 PMID는 사용하지 않았습니다 (초안 작성 과정에서 기억으로 적은 5개 중 4개가 전혀 다른 논문을 가리켰고, 모두 조회 결과로 교체했습니다).

이 모델이 정량적으로 의존하는 핵심 앵커 (The Load-bearing Anchors)

모델의 파라미터가 직접 고정되어 있는 문헌은 다음 6개입니다. 나머지 문헌은 구조(어떤 노드가 어떤 노드에 연결되는지)를 정당화하며, 아래 6개는 숫자를 정합니다.

앵커 문헌 관찰값 모델값
폐렴 노출-반응 기울기 Orange 2010 PMID 20675197 IgG trough 100 mg/dL당 −27% −29.0%
폐렴 발생률 앵커점 Orange 2010 trough 500 mg/dL에서 0.113/년 0.113/년
SC:IV 용량 보정계수 EMA / Berger·Jolles PMID 25384609 1.37 (AUC 매칭) 1.341
비감염 합병증 사망 RR Resnick 2012 PMID 22180439 약 11배 10.5배
smB− 전환기억 B세포 Wehr 2008 EUROclass PMID 17898316 B세포의 <2% 1.67%
기관지확장증 진행과 trough Lucas 2010 PMID 20471071 trough ≥600–800에서 진행 억제 0.049 → 0.002 Reiff점/년

과소예측을 그대로 보고하는 항목: 레니올리십의 12주 지표 병변 반응은 관찰값 −39% (Rao 2023 Blood PMID 36399712) 대비 모델 −21%입니다. 임의의 림프절 축소 항을 제거하고 PI3Kδ 억제만 남긴 결과이므로 맞추지 않고 그대로 둡니다.

1. 정의·진단기준·역학·레지스트리 (Definition, Diagnostic Criteria, Epidemiology & Registries)

  1. Cunningham-Rundles C, Bodian C Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999 92:34-48. PMID 10413651
  2. Quinti I et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 2007 27:308-16. PMID 17510807
  3. Chapel H et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008 112:277-86. PMID 18319398
  4. Resnick ES et al. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012 119:1650-7. PMID 22180439
  5. Gathmann B et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol 2014 134:116-26. PMID 24582312
  6. Bonilla FA et al. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. J Allergy Clin Immunol Pract 2016 4:38-59. PMID 26563668
  7. Odnoletkova I et al. The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data. Orphanet J Rare Dis 2018 13:201. PMID 30419968
  8. Seidel MG et al. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. J Allergy Clin Immunol Pract 2019 7:1763-1770. PMID 30776527
  9. Ameratunga R, Woon ST Perspective: Evolving Concepts in the Diagnosis and Understanding of Common Variable Immunodeficiency Disorders (CVID). Clin Rev Allergy Immunol 2020 59:109-121. PMID 31720921
  10. Ho HE, Cunningham-Rundles C Non-infectious Complications of Common Variable Immunodeficiency: Updated Clinical Spectrum, Sequelae, and Insights to Pathogenesis. Front Immunol 2020 11:149. PMID 32117289
  11. Pulvirenti F et al. Health-Related Quality of Life in Common Variable Immunodeficiency Italian Patients Switched to Remote Assistance During the COVID-19 Pandemic. J Allergy Clin Immunol Pract 2020 8:1894-1899.e2. PMID 32278865
  12. Cunningham-Rundles C et al. Genetics and clinical phenotypes in common variable immunodeficiency. Front Genet 2023 14:1272912. PMID 38274105

2. B세포 발달·계열전환 차단·EUROclass 분류 (B-cell Development, the Class-switch Block & Classification)

  1. Warnatz K et al. Expansion of CD19(hi)CD21(lo/neg) B cells in common variable immunodeficiency (CVID) patients with autoimmune cytopenia. Immunobiology 2002 206:502-13. PMID 12607725
  2. Piqueras B et al. Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects. J Clin Immunol 2003 23:385-400. PMID 14601647
  3. Wehr C et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 2008 111:77-85. PMID 17898316
  4. Rakhmanov M et al. Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells. Proc Natl Acad Sci U S A 2009 106:13451-6. PMID 19666505
  5. Isnardi I et al. Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones. Blood 2010 115:5026-36. PMID 20231422
  6. Romberg N et al. Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses. J Allergy Clin Immunol 2019 143:258-265. PMID 29935219
  7. Victora GD, Nussenzweig MC Germinal Centers. Annu Rev Immunol 2022 40:413-442. PMID 35113731

3. T세포 도움·조절 실패·CTLA-4 (T-cell Help, Regulatory Failure & CTLA-4)

  1. Giovannetti A et al. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol 2007 178:3932-43. PMID 17339494
  2. Malphettes M et al. Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis 2009 49:1329-38. PMID 19807277
  3. Qureshi OS et al. Trans-endocytosis of CD80 and CD86: a molecular basis for the cell-extrinsic function of CTLA-4. Science 2011 332:600-3. PMID 21474713
  4. Walker LS, Sansom DM The emerging role of CTLA4 as a cell-extrinsic regulator of T cell responses. Nat Rev Immunol 2011 11:852-63. PMID 22116087
  5. Unger S et al. The T(H)1 phenotype of follicular helper T cells indicates an IFN-γ-associated immune dysregulation in patients with CD21low common variable immunodeficiency. J Allergy Clin Immunol 2018 141:730-740. PMID 28554560
  6. Crotty S T Follicular Helper Cell Biology: A Decade of Discovery and Diseases. Immunity 2019 50:1132-1148. PMID 31117010
  7. Fernando SL et al. The Immune Dysregulation of Common Variable Immunodeficiency Disorders. Immunol Lett 2021 230:21-26. PMID 33333111

4. 유전적 기반 (Genetic Substrate — TACI, BAFF-R, CTLA4, LRBA, NFKB1/2, PIK3CD)

  1. Grimbacher B et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003 4:261-8. PMID 12577056
  2. Castigli E et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005 37:829-34. PMID 16007086
  3. Warnatz K et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A 2009 106:13945-50. PMID 19666484
  4. Orange JS et al. Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol 2011 127:1360-7.e6. PMID 21497890
  5. Lopez-Herrera G et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet 2012 90:986-1001. PMID 22608502
  6. Angulo I et al. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science 2013 342:866-71. PMID 24136356
  7. Chen K et al. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet 2013 93:812-24. PMID 24140114
  8. Kuehn HS et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science 2014 345:1623-1627. PMID 25213377
  9. Lucas CL et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol 2014 15:88-97. PMID 24165795
  10. Schubert D et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med 2014 20:1410-1416. PMID 25329329
  11. van Zelm MC et al. Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation. J Allergy Clin Immunol 2014 134:135-44. PMID 24418477
  12. Fliegauf M et al. Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. Am J Hum Genet 2015 97:389-403. PMID 26279205
  13. Li J et al. Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. Nat Commun 2015 6:6804. PMID 25891430
  14. Lo B et al. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science 2015 349:436-40. PMID 26206937
  15. Bogaert DJ et al. Genes associated with common variable immunodeficiency: one diagnosis to rule them all?. J Med Genet 2016 53:575-90. PMID 27250108
  16. Coulter TI et al. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study. J Allergy Clin Immunol 2017 139:597-606.e4. PMID 27555459
  17. Boutboul D et al. Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. J Clin Invest 2018 128:3071-3087. PMID 29889099
  18. Maccari ME et al. Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. Front Immunol 2018 9:543. PMID 29599784
  19. Schwab C et al. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol 2018 142:1932-1946. PMID 29729943
  20. Salzer U, Grimbacher B TACI deficiency - a complex system out of balance. Curr Opin Immunol 2021 71:81-88. PMID 34247095
  21. Rao VK et al. A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis. Clin Immunol 2025 270:110400. PMID 39561927

5. BAFF / APRIL 축과 B세포 sink (The BAFF-APRIL Axis and the B-cell Sink)

  1. Vallerskog T et al. Differential effects on BAFF and APRIL levels in rituximab-treated patients with systemic lupus erythematosus and rheumatoid arthritis. Arthritis Res Ther 2006 8:R167. PMID 17092341
  2. Knight AK et al. High serum levels of BAFF, APRIL, and TACI in common variable immunodeficiency. Clin Immunol 2007 124:182-9. PMID 17556024
  3. Kreuzaler M et al. Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors. J Immunol 2012 188:497-503. PMID 22124120
  4. Cambridge G et al. The effect of B-cell depletion therapy on serological evidence of B-cell and plasmablast activation in patients with rheumatoid arthritis over multiple cycles of rituximab treatment. J Autoimmun 2014 50:67-76. PMID 24365380

6. 면역글로불린 보충 약동학 (Immunoglobulin Replacement Pharmacokinetics)

  1. Koleba T, Ensom MH Pharmacokinetics of intravenous immunoglobulin: a systematic review. Pharmacotherapy 2006 26:813-27. PMID 16716135
  2. Roopenian DC, Akilesh S FcRn: the neonatal Fc receptor comes of age. Nat Rev Immunol 2007 7:715-25. PMID 17703228
  3. Borte M et al. Efficacy and safety of subcutaneous vivaglobin® replacement therapy in previously untreated patients with primary immunodeficiency: a prospective, multicenter study. J Clin Immunol 2011 31:952-61. PMID 21932110
  4. Shapiro RS Why I use subcutaneous immunoglobulin (SCIG). J Clin Immunol 2013 33 Suppl 2:S95-8. PMID 23264027
  5. Shapiro RS Subcutaneous immunoglobulin therapy given by subcutaneous rapid push vs infusion pump: a retrospective analysis. Ann Allergy Asthma Immunol 2013 111:51-5. PMID 23806460
  6. Jolles S et al. Current treatment options with immunoglobulin G for the individualization of care in patients with primary immunodeficiency disease. Clin Exp Immunol 2015 179:146-60. PMID 25384609
  7. Wasserman RL Recombinant human hyaluronidase-facilitated subcutaneous immunoglobulin infusion in primary immunodeficiency diseases. Immunotherapy 2017 9:1035-1050. PMID 28871852
  8. Jolles S et al. Long-Term Efficacy and Safety of Hizentra® in Patients with Primary Immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 Trials. J Clin Immunol 2018 38:864-875. PMID 30415311
  9. Ward ES, Ober RJ Targeting FcRn to Generate Antibody-Based Therapeutics. Trends Pharmacol Sci 2018 39:892-904. PMID 30143244

7. 노출-반응: trough IgG와 감염 (Exposure-Response — Trough IgG and Infection)

  1. Roifman CM et al. High-dose versus low-dose intravenous immunoglobulin in hypogammaglobulinaemia and chronic lung disease. Lancet 1987 1:1075-7. PMID 2883406
  2. Eijkhout HW et al. The effect of two different dosages of intravenous immunoglobulin on the incidence of recurrent infections in patients with primary hypogammaglobulinemia. A randomized, double-blind, multicenter crossover trial. Ann Intern Med 2001 135:165-74. PMID 11487483
  3. Busse PJ et al. Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency. J Allergy Clin Immunol 2002 109:1001-4. PMID 12063531
  4. Lucas M et al. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years. J Allergy Clin Immunol 2010 125:1354-1360.e4. PMID 20471071
  5. Orange JS et al. Impact of trough IgG on pneumonia incidence in primary immunodeficiency: A meta-analysis of clinical studies. Clin Immunol 2010 137:21-30. PMID 20675197
  6. Bonagura VR Illustrative cases on individualizing immunoglobulin therapy in primary immunodeficiency disease. Ann Allergy Asthma Immunol 2013 111:S10-3. PMID 24267400
  7. Perez EE et al. Update on the use of immunoglobulin in human disease: A review of evidence. J Allergy Clin Immunol 2017 139:S1-S46. PMID 28041678

8. 백신 반응·특이항체·옵소닌 기능 (Vaccine Response, Specific Antibody & Opsonic Function)

  1. Goldacker S et al. Active vaccination in patients with common variable immunodeficiency (CVID). Clin Immunol 2007 124:294-303. PMID 17602874
  2. Orange JS et al. Use and interpretation of diagnostic vaccination in primary immunodeficiency: a working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol 2012 130:S1-24. PMID 22935624

9. 점막 면역·IgA 공백·미생물 전위 (Mucosal Immunity, the IgA Gap & Microbial Translocation)

  1. Mantis NJ et al. Secretory IgA's complex roles in immunity and mucosal homeostasis in the gut. Mucosal Immunol 2011 4:603-11. PMID 21975936
  2. Shulzhenko N et al. Crosstalk between B lymphocytes, microbiota and the intestinal epithelium governs immunity versus metabolism in the gut. Nat Med 2011 17:1585-93. PMID 22101768
  3. Brandtzaeg P Secretory IgA: Designed for Anti-Microbial Defense. Front Immunol 2013 4:222. PMID 23964273
  4. Perreau M et al. Exhaustion of bacteria-specific CD4 T cells and microbial translocation in common variable immunodeficiency disorders. J Exp Med 2014 211:2033-45. PMID 25225461
  5. Jørgensen SF et al. Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation. Mucosal Immunol 2016 9:1455-1465. PMID 26982597
  6. Berbers RM et al. Gut microbial dysbiosis, IgA, and Enterococcus in common variable immunodeficiency with immune dysregulation. Microbiome 2025 13:12. PMID 39819634

10. 폐질환: 기관지확장증과 구조적 손상 (Lung Disease — Bronchiectasis & Structural Damage)

  1. Bhalla M et al. Cystic fibrosis: scoring system with thin-section CT. Radiology 1991 179:783-8. PMID 2027992
  2. Reiff DB et al. CT findings in bronchiectasis: limited value in distinguishing between idiopathic and specific types. AJR Am J Roentgenol 1995 165:261-7. PMID 7618537
  3. Kainulainen L et al. Pulmonary abnormalities in patients with primary hypogammaglobulinemia. J Allergy Clin Immunol 1999 104:1031-6. PMID 10550749
  4. Thickett KM et al. Common variable immune deficiency: respiratory manifestations, pulmonary function and high-resolution CT scan findings. QJM 2002 95:655-62. PMID 12324637
  5. Hampson FA et al. Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders. Clin Radiol 2012 67:587-95. PMID 22226567
  6. Altenburg J et al. Effect of azithromycin maintenance treatment on infectious exacerbations among patients with non-cystic fibrosis bronchiectasis: the BAT randomized controlled trial. JAMA 2013 309:1251-9. PMID 23532241
  7. Chalmers JD et al. The bronchiectasis severity index. An international derivation and validation study. Am J Respir Crit Care Med 2014 189:576-85. PMID 24328736

11. GLILD·육아종·간질성 폐질환 (GLILD, Granuloma & Interstitial Lung Disease)

  1. Bates CA et al. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol 2004 114:415-21. PMID 15316526
  2. Chase NM et al. Use of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID). J Clin Immunol 2013 33:30-9. PMID 22930256
  3. Gregersen S et al. Lung disease, T-cells and inflammation in common variable immunodeficiency disorders. Scand J Clin Lab Invest 2013 73:514-22. PMID 23957371
  4. Maglione PJ et al. Progression of Common Variable Immunodeficiency Interstitial Lung Disease Accompanies Distinct Pulmonary and Laboratory Findings. J Allergy Clin Immunol Pract 2015 3:941-50. PMID 26372540
  5. Hurst JR et al. British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders. J Allergy Clin Immunol Pract 2017 5:938-945. PMID 28351785
  6. Verbsky JW et al. Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency. J Allergy Clin Immunol 2021 147:704-712.e17. PMID 32745555
  7. Wobma H et al. Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach. Pediatr Pulmonol 2022 57:1577-1587. PMID 35426264
  8. Bintalib HM et al. Clinical Practice Guideline for the diagnosis of Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) in patients with Common Variable Immunodeficiency Disorders (CVID) - an ERS Clinical Research Collaboration. Eur Respir J 2026. PMID 42350065

12. 자가면역 세포감소증 (Autoimmune Cytopenias — ITP, AIHA, Evans)

  1. Michel M et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004 83:254-263. PMID 15232313
  2. Boileau J et al. Autoimmunity in common variable immunodeficiency: correlation with lymphocyte phenotype in the French DEFI study. J Autoimmun 2011 36:25-32. PMID 21075598
  3. Gobert D et al. Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients. Br J Haematol 2011 155:498-508. PMID 21981575
  4. Podjasek JC, Abraham RS Autoimmune cytopenias in common variable immunodeficiency. Front Immunol 2012 3:189. PMID 22837758
  5. Seidel MG Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. Blood 2014 124:2337-44. PMID 25163701
  6. Azizi G et al. Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management. Expert Rev Clin Immunol 2017 13:101-115. PMID 27636680
  7. Feuille EJ et al. Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry. J Clin Immunol 2018 38:28-34. PMID 29080979

13. 장병증·단백소실·간질환 (Enteropathy, Protein Loss & Liver Disease)

  1. Daniels JA et al. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol 2007 31:1800-12. PMID 18043034
  2. Ward C et al. Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. Clin Exp Immunol 2008 153:331-7. PMID 18647320
  3. Malamut G et al. The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol 2010 105:2262-75. PMID 20551941
  4. Umar SB, DiBaise JK Protein-losing enteropathy: case illustrations and clinical review. Am J Gastroenterol 2010 105:43-9; quiz 50. PMID 19789526
  5. Woodward JM et al. The role of chronic norovirus infection in the enteropathy associated with common variable immunodeficiency. Am J Gastroenterol 2015 110:320-7. PMID 25623655
  6. Jørgensen SF et al. A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency. Am J Gastroenterol 2016 111:1467-1475. PMID 27527747
  7. Pecoraro A et al. Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders. Front Immunol 2020 11:338. PMID 32184784
  8. Hercun J et al. Development of hepatic fibrosis in common variable immunodeficiency-related porto-sinusoidal vascular disorder. Aliment Pharmacol Ther 2024 60:888-896. PMID 39090843

14. 악성종양 (Malignancy)

  1. Dhalla F et al. Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme. Clin Exp Immunol 2011 165:1-7. PMID 21470209
  2. Tak Manesh A et al. Epidemiology and pathophysiology of malignancy in common variable immunodeficiency?. Allergol Immunopathol (Madr) 2017 45:602-615. PMID 28411962
  3. Kiaee F et al. Malignancy in common variable immunodeficiency: a systematic review and meta-analysis. Expert Rev Clin Immunol 2019 15:1105-1113. PMID 31452405

15. 표적치료·유전자형 지향 치료 (Targeted and Genotype-directed Therapy)

  1. Wehr C et al. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J Allergy Clin Immunol 2015 135:988-997.e6. PMID 25595268
  2. Rao VK et al. Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib. Blood 2017 130:2307-2316. PMID 28972011
  3. Taraldsrud E et al. Defective IL-4 signaling in T cells defines severe common variable immunodeficiency. J Autoimmun 2017 81:110-119. PMID 28476239
  4. Kiykim A et al. Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency. J Allergy Clin Immunol Pract 2019 7:2790-2800.e15. PMID 31238161
  5. Tesch VK et al. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. J Allergy Clin Immunol 2020 145:1452-1463. PMID 31887391
  6. Egg D et al. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol 2022 149:736-746. PMID 34111452
  7. Rao VK et al. A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome. Blood 2023 141:971-983. PMID 36399712

16. 보충요법의 이상반응 (Adverse Effects of Immunoglobulin Replacement)

  1. Orbach H et al. Intravenous immunoglobulin: adverse effects and safe administration. Clin Rev Allergy Immunol 2005 29:173-84. PMID 16391392
  2. Kahwaji J et al. Acute hemolysis after high-dose intravenous immunoglobulin therapy in highly HLA sensitized patients. Clin J Am Soc Nephrol 2009 4:1993-7. PMID 19833910
  3. Stiehm ER Adverse effects of human immunoglobulin therapy. Transfus Med Rev 2013 27:171-8. PMID 23835249
  4. Ammann EM et al. Intravenous immune globulin and thromboembolic adverse events: A systematic review and meta-analysis of RCTs. Am J Hematol 2016 91:594-605. PMID 26973084

17. 기타 기전·리뷰·보조 문헌 (Additional Mechanism, Review & Supporting Literature)

  1. Gregersen H et al. The impact of M-component type and immunoglobulin concentration on the risk of malignant transformation in patients with monoclonal gammopathy of undetermined significance. Haematologica 2001 86:1172-9. PMID 11694403
  2. El-Shanawany T, Jolles S Intravenous immunoglobulin and autoimmune disease. Ann N Y Acad Sci 2007 1110:507-15. PMID 17911466
  3. Magri G et al. Innate lymphoid cells integrate stromal and immunological signals to enhance antibody production by splenic marginal zone B cells. Nat Immunol 2014 15:354-364. PMID 24562309
  4. Rubinstein A et al. Long-Term Safety of Facilitated Subcutaneous Immunoglobulin 10% Treatment in US Clinical Practice in Patients with Primary Immunodeficiency Diseases: Results from a Post-Authorization Safety Study. J Clin Immunol 2024 44:181. PMID 39158670
  5. Bintalib HM et al. Investigating pulmonary and non-infectious complications in common variable immunodeficiency disorders: a UK national multi-centre study. Front Immunol 2024 15:1451813. PMID 39318627

문헌 활용 요약 (How the Literature Maps onto the Model)

모델 요소 근거 섹션
계열전환 차단 (FCSR), EUROclass 표현형 2
Tfh 확장·Treg/CTLA-4 실패 (ARM 2 뿌리) 3, 4
BAFF sink 소실 → 리툭시맙 후 BAFF 상승 5
2구획 IgG PK, FcRn 포화, SC 생체이용률 6
폐렴 노출-반응 Hill 함수, 개인별 생물학적 IgG 수준 7
점막 IgA 공백 → 부비동염의 용량-무관 바닥 8, 9
기관지확장증 래칫, Reiff/Bhalla 점수, 아지트로마이신 10
GLILD 구조적 영(null), 리툭시맙+아자티오프린 11
자가항체·혈소판·비장절제 트레이드오프 12
단백소실 장병증 → IgG 청소율 되먹임 13
누적 악성종양 위험 14
아바타셉트(CTLA4/LRBA), 레니올리십(APDS), HSCT 15
주입 반응·혈전·용혈 등 치료 대가 16

검색 전략 (Search Strategy)

PubMed E-utilities(esearch → esummary)로 제목·저자 필드 질의를 던져 PMID를 확정한 뒤, 반환된 메타데이터(저자·연도·저널·제목)를 그대로 인용에 사용했습니다. 반환된 논문이 주제에서 벗어난 경우 인용에서 제외했습니다. 따라서 이 목록의 인용 문자열은 기억이 아니라 조회 결과에서 생성된 것입니다.

면책 (Disclaimer)

본 QSP 모델은 교육 및 연구 목적입니다. 파라미터는 공개 문헌의 집계값에 맞추어 보정되었으나 개별 환자 데이터로 검증되지 않았으며, 임상 의사결정·처방· 규제 제출에 직접 사용해서는 안 됩니다.