691
Views
12
CrossRef citations to date
0
Altmetric
Review

Appropriate lung management in patients with primary antibody deficiencies

, , , , &
Pages 823-838 | Received 19 Apr 2019, Accepted 04 Jul 2019, Published online: 30 Jul 2019

References

  • Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Immunol Clin. 2018 Jan;38(1):129–143. PubMed PMID: 29226301; PubMed Central PMCID: PMCPMC5742599.
  • Picard C, Bobby Gaspar H, Al-Herz W, et al. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018 Jan;38(1):96–128. PubMed PMID: 29226302; PubMed Central PMCID: PMCPMC5742601.
  • Kobrynski L, Powell RW, Bowen S. Prevalence and morbidity of primary immunodeficiency diseases, United States 2001–2007. J Clin Immunol. 2014 Nov;34(8):954–961. PubMed PMID: 25257253; PubMed Central PMCID: PMCPMC4820073.
  • Bousfiha AA, Jeddane L, Ailal F, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol. 2013 Jan;33(1):1–7. PubMed PMID: 22847546.
  • Mortaz E, Tabarsi P, Mansouri D, et al. Cancers Related to Immunodeficiencies: update and Perspectives. Front Immunol. 2016;7:365. PubMed PMID: 27703456; PubMed Central PMCID: PMCPMC5028721
  • Quinti I, Agostini C, Tabolli S, et al. Malignancies are the major cause of death in patients with adult onset common variable immunodeficiency. Blood. 2012 Aug 30;120(9):1953–1954. PubMed PMID: 22936739.
  • Mahlaoui NG, Kindle B, Ehl G. on behalf of the ESID registry working party steering committee and the ESID society. The European Society for Immunodeficiencies (ESID) Registry: recent advancements in the epidemiology of Primary Immunodeficiencies and how does that translate in clinical care. Rare Dis Orphan Drugs J. 2014 Dec;1(4 Suppl. 4):25–27.
  • Durandy A, Kracker S, Fischer A. Primary antibody deficiencies. Nat Rev Immunol. 2013 Jul;13(7):519–533. PubMed PMID: 23765059.
  • Bonilla FA, Barlan I, Chapel H, et al. International Consensus Document (ICON): common Variable Immunodeficiency Disorders. J Allergy Clin Immunol Pract. 2016 Jan-Feb;4(1):38–59. PubMed PMID: 26563668; PubMed Central PMCID: PMCPMC4869529.
  • Odnoletkova I, Kindle G, Quinti 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 Nov 12;13(1):201. PubMed PMID: 30419968; PubMed Central PMCID: PMCPMC6233554.
  • Hampson FA, Chandra A, Screaton NJ, et al. Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders. Clin Radiol. 2012 Jun;67(6):587–595. PubMed PMID: 22226567.
  • Cinetto F, Scarpa R, Rattazzi M, et al. The broad spectrum of lung diseases in primary antibody deficiencies. Eur Respir Rev. 2018 Sep 30;27(149):180019. PubMed PMID: 30158276.
  • Pulvirenti F, Pecoraro A, Cinetto F, et al. Gastric cancer is the leading cause of death in Italian adult patients with common variable immunodeficiency. Front Immunol. 2018;9:2546. PubMed PMID: 30455695; PubMed Central PMCID: PMCPMC6230622.
  • Jolles S, Sanchez-Ramon S, Quinti I, et al. Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group. Clin Exp Immunol. 2017 Nov;190(2):226–234. PubMed PMID: 28708268; PubMed Central PMCID: PMCPMC5629444.
  • Freeman AF, Holland SM. Antimicrobial prophylaxis for primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):525–530. PubMed PMID: 19812481.
  • Schussler E, Beasley MB, Maglione PJ. Lung disease in primary antibody deficiencies. J Allergy Clin Immunol Pract. 2016 Nov - Dec;4(6):1039–1052. PubMed PMID: 27836055; PubMed Central PMCID: PMCPMC5129846.
  • Quinti I, Soresina A, Spadaro G, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol. 2007 May;27(3):308–316. PubMed PMID: 17510807.
  • Verma N, Grimbacher B, Hurst JR. Lung disease in primary antibody deficiency. Lancet Respir Med. 2015 Aug;3(8):651–660. PubMed PMID: 26188881.
  • Quinti I, Soresina A, Guerra A, et al. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. J Clin Immunol. 2011 Jun;31(3):315–322. PubMed PMID: 21365217.
  • Maglione PJ. Autoimmune and Lymphoproliferative Complications of Common Variable Immunodeficiency. Curr Allergy Asthma Rep. 2016 Mar;16(3):19. PubMed PMID: 26857017.
  • Ludvigsson JF, Neovius M, Hammarstrom L. Association between IgA deficiency & other autoimmune conditions: a population-based matched cohort study. J Clin Immunol. 2014 May;34(4):444–451. PubMed PMID: 24584841.
  • Chapel H, Lucas M, Patel S, et al. Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. J Allergy Clin Immunol. 2012 Nov;130(5):1197–1198 e9. PubMed PMID: 22819511.
  • Hurst JR, Workman S, Garcha DS, et al. Activity, severity and impact of respiratory disease in primary antibody deficiency syndromes. J Clin Immunol. 2014 Jan;34(1):68–75. PubMed PMID: 24136152.
  • Lucas M, Lee M, Lortan J, et al. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years. J Allergy Clin Immunol. 2010 Jun;125(6):1354–1360 e4. PubMed PMID: 20471071.
  • Sperlich JM, Grimbacher B, Workman S, et al. Respiratory infections and antibiotic usage in common variable immunodeficiency. J Allergy Clin Immunol Pract. 2017 Jul 19. DOI:10.1016/j.jaip.2017.05.024. PubMed PMID: 28734862.
  • Lougaris V, Sorlini A, Monfredini C, et al. Clinical and laboratory features of 184 Italian pediatric patients affected with selective IgA Deficiency (SIgAD): a longitudinal single-center study. J Clin Immunol. 2019 May 25. DOI:10.1007/s10875-019-00647-y. PubMed PMID: 31129864.
  • Parker AR, Skold M, Ramsden DB, et al. The clinical utility of measuring IgG subclass immunoglobulins during immunological investigation for suspected primary antibody deficiencies. Lab Med. 2017 Nov 8;48(4):314–325. PubMed PMID: 29126302; PubMed Central PMCID: PMCPMC5907904.
  • Filion CA, Taylor-Black S, Maglione PJ, et al. Differentiation of common variable immunodeficiency from IgG deficiency. J Allergy Clin Immunol Pract. 2019 Apr;7(4):1277–1284. PubMed PMID: 30557717; PubMed Central PMCID: PMCPMC6519441.
  • de la Morena MT. Clinical Phenotypes of Hyper-IgM Syndromes. J Allergy Clin Immunol Pract. 2016 Nov - Dec;4(6):1023–1036. PubMed PMID: 27836054.
  • Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br J Haematol. 2010 Apr;149(2):167–180. PubMed PMID: 20180797; PubMed Central PMCID: PMCPMC2855828.
  • Mooney D, Edgar D, Einarsson G, et al. Chronic lung disease in common variable immune deficiency (CVID): a pathophysiological role for microbial and non-B cell immune factors. Crit Rev Microbiol. 2017 Aug;43(4):508–519. PubMed PMID: 28068853.
  • Duraisingham SS, Manson A, Grigoriadou S, et al. Immune deficiency: changing spectrum of pathogens. Clin Exp Immunol. 2015 Aug;181(2):267–274. PubMed PMID: 25677249; PubMed Central PMCID: PMCPMC4516442.
  • Chen Y, Stirling RG, Paul E, et al. Longitudinal decline in lung function in patients with primary immunoglobulin deficiencies. J Allergy Clin Immunol. 2011 Jun;127(6):1414–1417. PubMed PMID: 21546068.
  • Stubbs A, Bangs C, Shillitoe B, et al. Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy. Clin Exp Immunol. 2018 Feb;191(2):212–219. PubMed PMID: 28990652; PubMed Central PMCID: PMCPMC5758375.
  • Azoulay E, Bergeron A, Chevret S, et al. Polymerase chain reaction for diagnosing pneumocystis pneumonia in non-HIV immunocompromised patients with pulmonary infiltrates. Chest. 2009 Mar;135(3):655–661. PubMed PMID: 19265086.
  • Eyzaguirre E, Haque AK. Application of immunohistochemistry to infections. Arch Pathol Lab Med. 2008 Mar;132(3):424–431. PubMed PMID: 18318584.
  • Kainulainen L, Nikoskelainen J, Vuorinen T, et al. Viruses and bacteria in bronchial samples from patients with primary hypogammaglobulinemia. Am J Respir Crit Care Med. 1999 Apr;159(4 Pt 1):1199–1204. PubMed PMID: 10194166.
  • Oksenhendler E, Gerard L, Fieschi C, et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis. 2008 May 15;46(10):1547–1554. PubMed PMID: 18419489.
  • Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann N Y Acad Sci. 2011 Nov;1238:7–14. PubMed PMID: 22129048.
  • Jesenak M, Banovcin P, Jesenakova B, et al. Pulmonary manifestations of primary immunodeficiency disorders in children. Front Pediatr. 2014;2:77. PubMed PMID: 25121077; PubMed Central PMCID: PMCPMC4110629.
  • Kainulainen L, Vuorinen T, Rantakokko-Jalava K, et al. Recurrent and persistent respiratory tract viral infections in patients with primary hypogammaglobulinemia. J Allergy Clin Immunol. 2010 Jul;126(1):120–126. PubMed PMID: 20541246.
  • Kralickova P, Mala E, Vokurkova D, et al. Cytomegalovirus disease in patients with common variable immunodeficiency: three case reports. Int Arch Allergy Immunol. 2014;163(1):69–74. PubMed PMID: 24247002
  • Fried AJ, Bonilla FA. Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin Microbiol Rev. 2009 Jul;22(3):396–414. PubMed PMID: 19597006; PubMed Central PMCID: PMCPMC2708392.
  • Jongco AM, Gough JD, Sarnataro K, et al. X-linked agammaglobulinemia presenting as polymicrobial pneumonia, including Pneumocystis jirovecii. Ann Allergy Asthma Immunol. 2014 Jan;112(1):74–75 e2. PubMed PMID: 24331399; PubMed Central PMCID: PMCPMC3875599.
  • Eijkhout HW, van Der Meer JW, Kallenberg CG, 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 Aug 7;135(3):165–174. PubMed PMID: 11487483.
  • Roifman CM, Levison H, Gelfand EW. High-dose versus low-dose intravenous immunoglobulin in hypogammaglobulinaemia and chronic lung disease. Lancet. 1987 May 9;1(8541):1075–1077. PubMed PMID: 2883406.
  • Plebani A, Soresina A, Rondelli R, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol. 2002 Sep;104(3):221–230. PubMed PMID: 12217331.
  • Thickett KM, Kumararatne DS, Banerjee AK, et al. Common variable immune deficiency: respiratory manifestations, pulmonary function and high-resolution CT scan findings. QJM. 2002 Oct;95(10):655–662. PubMed PMID: 12324637.
  • Schutz K, Alecsandru D, Grimbacher B, et al. Imaging of bronchial pathology in antibody deficiency: data from the European Chest CT Group. J Clin Immunol. 2019 Jan;39(1):45–54. PubMed PMID: 30547383.
  • Moschese V, Chini L, Graziani S, et al. Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children. Eur J Pediatr. 2019 Jan;178(1):51–60. PubMed PMID: 30269248.
  • Pulvirenti F, Camilli R, Giufre M, et al. Risk factors for Haemophilus influenzae and pneumococcal respiratory tract colonization in CVID. J Allergy Clin Immunol. 2018 Dec;142(6):1999–2002 e3. PubMed PMID: 30170126.
  • Edgar JD, Buckland M, Guzman D, et al. The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years’ activity 2008–2012. Clin Exp Immunol. 2014 Jan;175(1):68–78. PubMed PMID: 23841717; PubMed Central PMCID: PMCPMC3898556.
  • Cole PJ. Inflammation: a two-edged sword–the model of bronchiectasis. Eur J Respir Dis Suppl. 1986;147:6–15. PubMed PMID: 3533593.
  • Hurst JR, Elborn JS, De Soyza A, et al. COPD-bronchiectasis overlap syndrome. Eur Respir J. 2015 Feb;45(2):310–313. PubMed PMID: 25653262.
  • Livnat G, Bentur L. Non-cystic fibrosis bronchiectasis: review and recent advances. F1000 Med Rep. 2009 Aug; 26. 1. DOI:10.3410/M1-67. PubMed PMID: 20948713; PubMed Central PMCID: PMCPMC2948306.
  • Brent J, Guzman D, Bangs C, et al. Clinical and laboratory correlates of lung disease and cancer in adults with idiopathic hypogammaglobulinaemia. Clin Exp Immunol. 2016 Apr;184(1):73–82. PubMed PMID: 26646609; PubMed Central PMCID: PMC4778100.
  • Spagnolo P, Fabbri LM, Bush A. Long-term macrolide treatment for chronic respiratory disease. Eur Respir J. 2013 Jul;42(1):239–251. PubMed PMID: 23180583.
  • Khan TZ, Wagener JS, Bost T, et al. Early pulmonary inflammation in infants with cystic fibrosis. Am J Respir Crit Care Med. 1995 Apr;151(4):1075–1082. PubMed PMID: 7697234.
  • ElMaraachli W, Conrad DJ, Wang AC. Using cystic fibrosis therapies for non-cystic fibrosis bronchiectasis. Clin Chest Med. 2016 Mar;37(1):139–146. PubMed PMID: 26857775.
  • Saiman L, Anstead M, Mayer-Hamblett N, et al. Effect of azithromycin on pulmonary function in patients with cystic fibrosis uninfected with Pseudomonas aeruginosa: a randomized controlled trial. JAMA. 2010 May 5;303(17):1707–1715. PubMed PMID: 20442386.
  • Equi A, Balfour-Lynn IM, Bush A, et al. Long term azithromycin in children with cystic fibrosis: a randomised, placebo-controlled crossover trial. Lancet. 2002 Sep 28;360(9338):978–984. PubMed PMID: 12383667.
  • Wong C, Jayaram L, Karalus N, et al. Azithromycin for prevention of exacerbations in non-cystic fibrosis bronchiectasis (EMBRACE): a randomised, double-blind, placebo-controlled trial. Lancet. 2012 Aug 18;380(9842):660–667. PubMed PMID: 22901887.
  • Albert RK, Connett J, Bailey WC, et al. Azithromycin for prevention of exacerbations of COPD. N Engl J Med. 2011 Aug 25;365(8):689–698. PubMed PMID: 21864166; PubMed Central PMCID: PMCPMC3220999.
  • Altenburg J, de Graaff CS, Stienstra Y, et al. Effect of azithromycin maintenance treatment on infectious exacerbations among patients with non-cystic fibrosis bronchiectasis: the BAT randomized controlled trial. JAMA. 2013 Mar 27;309(12):1251–1259. PubMed PMID: 23532241.
  • Ballow M, Paris K, de la Morena M. Should antibiotic prophylaxis be routinely used in patients with antibody-mediated primary immunodeficiency? J Allergy Clin Immunol Pract. 2017 Dec 21. DOI:10.1016/j.jaip.2017.11.024. PubMed PMID: 29274825.
  • Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186–205 e1-78. PubMed PMID: 26371839.
  • Rich AL, Le Jeune IR, McDermott L, et al. Serial lung function tests in primary immune deficiency. Clin Exp Immunol. 2008 Jan;151(1):110–113. PubMed PMID: 18005259; PubMed Central PMCID: PMCPMC2276933.
  • Kuruvilla M, de la Morena MT. Antibiotic prophylaxis in primary immune deficiency disorders. J Allergy Clin Immunol Pract. 2013 Nov-Dec;1(6):573–582. PubMed PMID: 24565703.
  • Moschese V, Martire B, Soresina A, et al. Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. J Biol Regul Homeost Agents. 2013 Oct-Dec;27(4):935–946. PubMed PMID: 24382174.
  • Milito C, Pulvirenti F, Cinetto F, et al. Double-Blind, Placebo-Controlled Randomized Trial on Low Dose Azithromycin Prophilaxis in Primary Antibody Deficiencies. J Allergy Clin Immunol. 2019 Mar 22. DOI:10.1016/j.jaci.2019.01.051. PubMed PMID: 30910492.
  • Starner TD, Shrout JD, Parsek MR, et al. Subinhibitory concentrations of azithromycin decrease nontypeable Haemophilus influenzae biofilm formation and Diminish established biofilms. Antimicrob Agents Chemother. 2008 Jan;52(1):137–145. PubMed PMID: 17954687; PubMed Central PMCID: PMCPMC2223912.
  • Cameron EJ, McSharry C, Chaudhuri R, et al. Long-term macrolide treatment of chronic inflammatory airway diseases: risks, benefits and future developments. Clin Exp Allergy. 2012 Sep;42(9):1302–1312. PubMed PMID: 22925316.
  • Malhotra-Kumar S, Lammens C, Coenen S, et al. Effect of azithromycin and clarithromycin therapy on pharyngeal carriage of macrolide-resistant streptococci in healthy volunteers: a randomised, double-blind, placebo-controlled study. Lancet. 2007 Feb 10;369(9560):482–490. PubMed PMID: 17292768.
  • Renna M, Schaffner C, Brown K, et al. Azithromycin blocks autophagy and may predispose cystic fibrosis patients to mycobacterial infection. J Clin Invest. 2011 Sep;121(9):3554–3563. PubMed PMID: 21804191; PubMed Central PMCID: PMCPMC3163956.
  • Garrod R, Lasserson T. Role of physiotherapy in the management of chronic lung diseases: an overview of systematic reviews. Respir Med. 2007 Dec;101(12):2429–2436. PubMed PMID: 17870457.
  • Shillitoe B, Gennery A. X-Linked Agammaglobulinaemia: outcomes in the modern era. Clin Immunol. 2017 Oct;183:54–62. PubMed PMID: 28729230.
  • Lee AL, Hill CJ, McDonald CF, et al. Pulmonary rehabilitation in individuals with non-cystic fibrosis bronchiectasis: a systematic review. Arch Phys Med Rehabil. 2017 Apr;98(4):774–782 e1. PubMed PMID: 27320420.
  • Berger M, Geng B, Cameron DW, et al. Primary immune deficiency diseases as unrecognized causes of chronic respiratory disease. Respir Med. 2017 Nov;132:181–188. PubMed PMID: 29229095.
  • Ozcan C, Metin A, Erkocoglu M, et al. Bronchial hyperreactivity in children with antibody deficiencies. Allergol Immunopathol (Madr). 2015 Jan-Feb;43(1):57–61. PubMed PMID: 24485938.
  • Kim JH, Park S, Hwang YI, et al. Immunoglobulin G subclass deficiencies in adult patients with chronic airway diseases. J Korean Med Sci. 2016 Oct;31(10):1560–1565. PubMed PMID: 27550483; PubMed Central PMCID: PMCPMC4999397.
  • McCullagh BN, Comellas AP, Ballas ZK, et al. Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD). PLoS One. 2017;12(2):e0172437. . PubMed PMID: 28212436; PubMed Central PMCID: PMCPMC5315316
  • Urm SH, Yun HD, Fenta YA, et al. Asthma and risk of selective IgA deficiency or common variable immunodeficiency: a population-based case-control study. Mayo Clin Proc. 2013 Aug;88(8):813–821. PubMed PMID: 23910409; PubMed Central PMCID: PMCPMC3753684.
  • Wirsum C, Glaser C, Gutenberger S, et al. Secondary antibody deficiency in glucocorticoid therapy clearly differs from primary antibody deficiency. J Clin Immunol. 2016 May;36(4):406–412. PubMed PMID: 26980224.
  • Kim JH, Ye YM, Ban GY, et al. Effects of immunoglobulin replacement on asthma exacerbation in adult asthmatics with IgG subclass deficiency. Allergy Asthma Immunol Res. 2017 Nov;9(6):526–533. PubMed PMID: 28913992; PubMed Central PMCID: PMCPMC5603481.
  • Schwartz HJ, Hostoffer RW, McFadden ER Jr., et al. The response to intravenous immunoglobulin replacement therapy in patients with asthma with specific antibody deficiency. Allergy Asthma Proc. 2006 Jan-Feb;27(1):53–58. PubMed PMID: 16598993.
  • Cowan J, Gaudet L, Mulpuru S, et al. A retrospective longitudinal within-subject risk interval analysis of immunoglobulin treatment for recurrent acute exacerbation of chronic obstructive pulmonary disease. PLoS One. 2015;10(11):e0142205. PubMed PMID: 26558756; PubMed Central PMCID: PMCPMC4641695.
  • Tarzi MD, Grigoriadou S, Carr SB, et al. Clinical immunology review series: an approach to the management of pulmonary disease in primary antibody deficiency. Clin Exp Immunol. 2009 Feb;155(2):147–155. PubMed PMID: 19128358; PubMed Central PMCID: PMCPMC2675244.
  • Wheat WH, Cool CD, Morimoto Y, et al. Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency. J Exp Med. 2005 Aug 15;202(4):479–484. PubMed PMID: 16103407; PubMed Central PMCID: PMCPMC2212861.
  • Ardeniz O, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Clin Immunol. 2009 Nov;133(2):198–207. PubMed PMID: 19716342; PubMed Central PMCID: PMCPMC2760682.
  • Cinetto F, Agostini C. Advances in understanding the immunopathology of sarcoidosis and implications on therapy. Expert Rev Clin Immunol. 2016 Sep;12(9):973–988. PubMed PMID: 27101234.
  • Tafuro F, Corradi M. An approach to interpreting restrictive spirometric pattern results in occupational settings. Med Lav. 2016 Dec 13;107(6):419–436. PubMed PMID: 27976661.
  • Yazdani R, Abolhassani H, Asgardoon M, et al. Infectious and noninfectious pulmonary complications in patients with primary immunodeficiency disorders. J Investig Allergol Clin Immunol. 2017;27(4):213–224. PubMed PMID: 28731410.
  • Popa V, Colby TV, Reich SB. Pulmonary interstitial disease in Ig deficiency. Chest. 2002 Nov;122(5):1594–1603. PubMed PMID: 12426258.
  • Prasse A, Kayser G, Warnatz K. Common variable immunodeficiency-associated granulomatous and interstitial lung disease. Curr Opin Pulm Med. 2013 Sep;19(5):503–509. PubMed PMID: 23880700.
  • Maglione PJ, Ko HM, Beasley MB, et al. Tertiary lymphoid neogenesis is a component of pulmonary lymphoid hyperplasia in patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014 Feb;133(2):535–542. PubMed PMID: 24131823; PubMed Central PMCID: PMCPMC4109033.
  • Kuehn HS, Ouyang W, Lo B, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014 Sep 26;345(6204):1623–1627. PubMed PMID: 25213377; PubMed Central PMCID: PMCPMC4371526.
  • Flanagan SE, Haapaniemi E, Russell MA, et al. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet. 2014 Aug;46(8):812–814. PubMed PMID: 25038750; PubMed Central PMCID: PMCPMC4129488.
  • Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012 Jun 8;;90(6):986–1001. PubMed PMID: 22608502; PubMed Central PMCID: PMCPMC3370280.
  • Buchbinder D, Baker R, Lee YN, et al. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. J Clin Immunol. 2015 Feb;35(2):119–124. PubMed PMID: 25516070; PubMed Central PMCID: PMCPMC4479182.
  • Rao N, Mackinnon AC, Routes JM. Granulomatous and lymphocytic interstitial lung disease: a spectrum of pulmonary histopathologic lesions in common variable immunodeficiency – histologic and immunohistochemical analyses of 16 cases. Hum Pathol. 2015 Sep;46(9):1306–1314. PubMed PMID: 26138782; PubMed Central PMCID: PMCPMC4554947.
  • Shokri S, Nabavi M, Hirschmugl T, et al. LPS-responsive beige-like anchor gene mutation associated with possible bronchiolitis obliterans organizing pneumonia associated with hypogammaglobulinemia and normal IgM phenotype and low number of B Cells. Acta Med Iran. 2016 Oct;54(10):620–623. PubMed PMID: 27888588.
  • Sood AK, Funkhouser W, Handly B, et al. Granulomatous-lymphocytic interstitial lung disease in 22q11.2 deletion syndrome: a case report and literature review. Curr Allergy Asthma Rep. 2018 Feb 22;18(3):14. PubMed PMID: 29470661; PubMed Central PMCID: PMCPMC5935501.
  • Kaufman J, Komorowski R. Bronchiolitis obliterans organizing pneumonia in common variable immunodeficiency syndrome. Chest. 1991 Aug;100(2):552–553. PubMed PMID: 1864136.
  • Boujaoude Z, Arya R, Rafferty W, et al. Organising pneumonia in common variable immunodeficiency. BMJ Case Rep. 2013 Jun ;7:2013. PubMed PMID: 23749855; PubMed Central PMCID: PMCPMC3702795.
  • Bates CA, Ellison MC, Lynch DA, et al. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol. 2004 Aug;114(2):415–421. PubMed PMID: 15316526.
  • Park JH, Levinson AI. Granulomatous-lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). Clin Immunol. 2010 Feb;134(2):97–103. PubMed PMID: 19900842.
  • Verbsky JW, Routes JM. Sarcoidosis and common variable immunodeficiency: similarities and differences. Semin Respir Crit Care Med. 2014 Jun;35(3):330–335. PubMed PMID: 25007085.
  • Hurst JR, Verma N, Lowe D, 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 Jul - Aug;5(4):938–945. PubMed PMID: 28351785.
  • Chase NM, Verbsky JW, Hintermeyer MK, 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 Jan;;33(1):30–39. PubMed PMID: 22930256; PubMed Central PMCID: PMCPMC3557581.
  • Morimoto Y, Routes JM. Granulomatous disease in common variable immunodeficiency. Curr Allergy Asthma Rep. 2005 Sep;;5(5):370–375. PubMed PMID: 16091208.
  • Hartono S, Motosue MS, Khan S, et al. Predictors of granulomatous lymphocytic interstitial lung disease in common variable immunodeficiency. Ann Allergy Asthma Immunol. 2017 May;118(5):614–620. PubMed PMID: 28254202.
  • Maglione PJ, Overbey JR, Cunningham-Rundles C. Progression of common variable immunodeficiency interstitial lung disease accompanies distinct pulmonary and laboratory findings. J Allergy Clin Immunol Pract. 2015 Nov-Dec;3(6):941–950. PubMed PMID: 26372540; PubMed Central PMCID: PMCPMC4641811.
  • Resnick ES, Moshier EL, Godbold JH, et al. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012 Feb 16;119(7):1650–1657. PubMed PMID: 22180439; PubMed Central PMCID: PMCPMC3286343.
  • Gregersen S, Aalokken TM, Mynarek G, et al. Development of pulmonary abnormalities in patients with common variable immunodeficiency: associations with clinical and immunologic factors. Ann Allergy Asthma Immunol. 2010 Jun;104(6):503–510. PubMed PMID: 20568383.
  • Cereser L, Girometti R, d’Angelo P, et al. Humoral primary immunodeficiency diseases: clinical overview and chest high-resolution computed tomography (HRCT) features in the adult population. Clin Radiol. 2017 Jul;72(7):534–542. PubMed PMID: 28433201.
  • Jolles S, Carne E, Brouns M, et al. FDG PET-CT imaging of therapeutic response in granulomatous lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). Clin Exp Immunol. 2017 Jan;187(1):138–145. PubMed PMID: 27896807; PubMed Central PMCID: PMCPMC5167039.
  • Bouvry D, Mouthon L, Brillet PY, et al. Granulomatosis-associated common variable immunodeficiency disorder: a case-control study versus sarcoidosis. Eur Respir J. 2013 Jan;41(1):115–122. PubMed PMID: 22903958.
  • Naccache JM, Bouvry D, Valeyre D. Bronchoalveolar lavage cytology resembles sarcoidosis in a subgroup of granulomatous CVID. Eur Respir J. 2014 Mar;43(3):924–925. PubMed PMID: 24585876.
  • Kollert F, Venhoff N, Goldacker S, et al. Bronchoalveolar lavage cytology resembles sarcoidosis in a subgroup of granulomatous CVID. Eur Respir J. 2014 Mar;43(3):922–924. PubMed PMID: 24585875.
  • Poletti V, Ravaglia C, Dubini A, et al. How might transbronchial cryobiopsy improve diagnosis and treatment of diffuse parenchymal lung disease patients? Expert Rev Respir Med. 2017 Dec;11(12):913–917. PubMed PMID: 29050527.
  • Arish N, Eldor R, Fellig Y, et al. Lymphocytic interstitial pneumonia associated with common variable immunodeficiency resolved with intravenous immunoglobulins. Thorax. 2006 Dec;61(12):1096–1097. PubMed PMID: 17114373; PubMed Central PMCID: PMCPMC2117067.
  • de Gracia J, Vendrell M, Alvarez A, et al. Immunoglobulin therapy to control lung damage in patients with common variable immunodeficiency. Int Immunopharmacol. 2004 Jun;4(6):745–753. PubMed PMID: 15135316.
  • Boursiquot JN, Gerard L, Malphettes M, et al. Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients. J Clin Immunol. 2013 Jan;33(1):84–95. PubMed PMID: 22986767.
  • Ng J, Wright K, Alvarez M, et al. Rituximab monotherapy for common variable immune deficiency-associated granulomatous-lymphocytic interstitial lung disease. Chest. 2019 May;155(5):e117–e121. PubMed PMID: 31060706.
  • Maglione PJ, Gyimesi G, Cols M, et al. BAFF-driven B cell hyperplasia underlies lung disease in common variable immunodeficiency. JCI Insight. 2019 Mar 7;4(5): DOI:10.1172/jci.insight.122728 PubMed PMID: 30843876; PubMed Central PMCID: PMCPMC6483510.
  • Pecoraro A, Crescenzi L, Galdiero MR, et al. Immunosuppressive therapy with rituximab in common variable immunodeficiency. Clin Mol Allergy. 2019;17:9. PubMed PMID: 31080365; PubMed Central PMCID: PMCPMC6501382
  • Bucciol G, Petrone A, Putti MC. Efficacy of mycophenolate on lung disease and autoimmunity in children with immunodeficiency. Pediatr Pulmonol. 2017 Oct;;52(10):E73–E76. PubMed PMID: 28672090.
  • Deya-Martinez A, Esteve-Sole A, Velez-Tirado N, et al. Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells. Pediatr Allergy Immunol. 2018 Jun;;29(4):425–432. PubMed PMID: 29532571.
  • Shamriz O, Shadur B, NaserEddin A, et al. Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients. Eur J Pediatr. 2018 Aug;;177(8):1163–1172. PubMed PMID: 29777306.
  • Maccari ME, Abolhassani H, Aghamohammadi A, et al. Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase delta syndrome: the european society for immunodeficiencies-activated phosphoinositide 3-kinase delta syndrome registry. Front Immunol. 2018;9:543. PubMed PMID: 29599784; PubMed Central PMCID: PMCPMC5863269.
  • Fattorossi A, Battaglia A, Buzzonetti A, et al. Circulating and thymic CD4 CD25 T regulatory cells in myasthenia gravis: effect of immunosuppressive treatment. Immunology. 2005 Sep;;116(1):134–141. PubMed PMID: 16108825; PubMed Central PMCID: PMCPMC1802400.
  • Catzola V, Battaglia A, Buzzonetti A, et al. Changes in regulatory T cells after rituximab in two patients with refractory myasthenia gravis. J Neurol. 2013 Aug;260(8):2163–2165. PubMed PMID: 23749295.
  • Cinetto F, Compagno N, Scarpa R, et al. Rituximab in refractory sarcoidosis: a single centre experience. Clin Mol Allergy. 2015;13(1):19. PubMed PMID: 26330764; PubMed Central PMCID: PMCPMC4556310.
  • Sirajuddin A, Raparia K, Lewis VA, et al. Primary Pulmonary Lymphoid Lesions: radiologic and Pathologic Findings. Radiographics. 2016 Jan-Feb;36(1):53–70. PubMed PMID: 26761531.
  • Bierry G, Boileau J, Barnig C, et al. Thoracic manifestations of primary humoral immunodeficiency: a comprehensive review. Radiographics. 2009 Nov;29(7):1909–1920. PubMed PMID: 19926753.
  • Latour S, Winter S. Inherited Immunodeficiencies With High Predisposition to Epstein-Barr Virus-Driven Lymphoproliferative Diseases. Front Immunol. 2018;9:1103. PubMed PMID: 29942301; PubMed Central PMCID: PMCPMC6004768.
  • Reichenberger F, Wyser C, Gonon M, et al. Pulmonary mucosa-associated lymphoid tissue lymphoma in a patient with common variable immunodeficiency syndrome. Respiration. 2001;68(1):109–112. PubMed PMID: 11223743.
  • Malphettes M, Gerard L, Galicier L, et al. Good syndrome: an adult-onset immunodeficiency remarkable for its high incidence of invasive infections and autoimmune complications. Clin Infect Dis. 2015 Jul 15;61(2):e13–9. PubMed PMID: 25828999.
  • Vignesh P, Rawat A, An SS. Update on the use of immunomodulators in primary immunodeficiencies. Clin Rev Allergy Immunol. 2017 Apr;52(2):287–303. PubMed PMID: 27873163.
  • Italian Primary Immunodeficiency Network (IPINet). Recommendations on CVID management. https://www.aieop.org/web/operatori-sanitari/gruppi-di-lavoro/immunodeficienze/
  • Serra G, Milito C, Mitrevski M, et al. Lung MRI as a possible alternative to CT scan for patients with primary immune deficiencies and increased radiosensitivity. Chest. 2011 Dec;140(6):1581–1589. PubMed PMID: 21622550.
  • Milito C, Pulvirenti F, Serra G, et al. Lung magnetic resonance imaging with diffusion weighted imaging provides regional structural as well as functional information without radiation exposure in primary antibody deficiencies. J Immunol Clin. 2015 Jul;35(5):491–500. PubMed PMID: 26067227; PubMed Central PMCID: PMCPMC4502290.
  • Jolles S, Orange JS, Gardulf A, et al. Current treatment options with immunoglobulin G for the individualization of care in patients with primary immunodeficiency disease. Clin Exp Immunol. 2015 Feb;179(2):146–160. PubMed PMID: 25384609; PubMed Central PMCID: PMCPMC4298393.
  • Romei C, Turturici L, Tavanti L, et al. The use of chest magnetic resonance imaging in interstitial lung disease: a systematic review. Eur Respir Rev. 2018 Dec 31;27(150). DOI:10.1183/16000617.0062-2018. PubMed PMID: 30567932.
  • Weatherley ND, Eaden JA, Stewart NJ, et al. Experimental and quantitative imaging techniques in interstitial lung disease. Thorax. 2019 Mar 18. DOI:10.1136/thoraxjnl-2018-211779. PubMed PMID: 30886067.
  • Langereis JD, van der Flier M, de Jonge MI. Limited innovations after more than 65 years of immunoglobulin replacement therapy: potential of IgA- and IgM-enriched formulations to prevent bacterial respiratory tract infections. Front Immunol. 2018;9:1925. PubMed PMID: 30190722; PubMed Central PMCID: PMCPMC6115500.
  • Corthesy B, Monnerat J, Lotscher M, et al. Oral passive immunization with plasma-derived polyreactive secretory-like IgA/M partially protects mice against experimental salmonellosis. Front Immunol. 2018;9:2970. PubMed PMID: 30619327; PubMed Central PMCID: PMCPMC6305475
  • Vonarburg C, Loetscher M, Spycher MO, et al. Topical application of nebulized human IgG, IgA and IgAM in the lungs of rats and non-human primates. Respir Res. 2019 May 22;20(1):99. PubMed PMID: 31118031.
  • Horn J, Thon V, Bartonkova D, et al. Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy. Clin Immunol. 2007 Feb;;122(2):156–162. PubMed PMID: 17137841.
  • Tsujita Y, Imai K, Honma K, et al. A severe anaphylactic reaction associated with IgM-class anti-human IgG antibodies in a hyper-IgM syndrome type 2 patient. J Clin Immunol. 2018 Jan;38(1):144–148. PubMed PMID: 29255996.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.