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Primary ciliary dyskinesia and humoral immunodeficiency - what is the missing link?

Primary ciliary dyskinesia and humoral immunodeficiency - what is the missing link? Boon et al. Clinical and Translational Allergy 2013, 3(Suppl 2):P11 http://www.ctajournal.com/content/3/S2/P11 POSTER PRESENTATION Open Access Primary ciliary dyskinesia and humoral immunodeficiency - what is the missing link? 1* 2 1 3 Mieke Boon , Mark Jorissen , Kris De Boeck , Isabelle Meyts From 9th Symposium of Experimental Rhinology and Immunology of the Nose (SERIN 2013) Leuven, Belgium. 21-23 March 2013 Background PCD was confirmed by functional and structural evalua- Primary ciliary dyskinesia (PCD) is a rare disorder (pre- tion of the cilia, including evaluation after ciliogenesis in valence 1/20000), caused by congenital dysmotility of culture, excluding secondary ciliary dyskinesia. the respiratory cilia. Humoral immunodeficiency (HID) often presents in a similar way with recurrent ear, nose Results and sinopulmonary infections, not seldom evolving to We report the coincidence of PCD with HID in 8 chronic lung disease. Although isolated IgG subclass patients (4.6%). Table 1 represents the patient character- deficiencies and IgA deficiency are common conditions, istics. Skorpinski et al already reported on the surprising Common Variable Immunodeficiency (CVID) is more association of PCD and CVID in a single patient. We rare with a prevalence ranging from 1/10000 to 1/50000. have no explanation for this remarkable finding, but hypotheses can be postulated. Hematopoietic cells lack Method primary cilia, but they do express certain intraflagellar We examined the coincidence of PCD with HID in a transport proteins needed for the formation of the large cohort of patients with PCD. The diagnosis of immune synaps. Dysfunction of one of these proteins Table 1 Patient Age Clinical Immuno Laboratory results Treatment (y) presentation deficiency (before start of HID replacement therapy) IgG (g/l) IgG2 IgG3 IgA IgM Pneumococcal antibodies (g/m) (g/l) (g/l) (g/l) (before-after vaccination) (U/ml) 1* 13 SI, C, B, CVID 7,54 (6,35-14,89) 0,5 0,13 0,29 0,23 Type 3: 33-114, type 4: 38- SCIG CR, E (0,63- (0,17- (0,46- (0,47- 23, type 9N: 6-33 3,0) 0,88) 2,51) 2,2) 2* 16 C, B, CR CVID 8,55 (4,78-11,29) 0,38 0,27 0 (0,35- 0,41 Type 3: 26-57, type 4: 8- SCIG (0,72- (0,13- 1,9) (0,34- 54, type 9N:7-66 3,4) 1,33) 1,34) 3 32 SI, C, B, IgG2 and 8,3 (7-16) 1,8 0,18 1,37 0,37 SCIG CR, E IgG3 (2,42- (0,22- (0,7-4,0) (0,4-2,3) deficiency 7,0) 1,76) 4 43 C, B, CR IgG3 9,34 (7,51-15,6) 3,38 0,11 Intermittent deficiency (1,50- (0,20- IVIG 6,40) 1,10) 5 62 SI, C, B, CR IgG2 6,64 (7,51-15,6) 1,14 0,96 1,43 2,71 Intermittent deficiency (1,5-6,4) (0,2-1,1) (0,82- (0,46- IVIG 4,53) 3,04) UZ Gasthuisberg Leuven, Pediatric Pulmonology, Leuven, Belgium Full list of author information is available at the end of the article © 2013 Boon et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Boon et al. Clinical and Translational Allergy 2013, 3(Suppl 2):P11 Page 2 of 2 http://www.ctajournal.com/content/3/S2/P11 Table 1 (Continued) 6 33 C, B, CR, E IgG3 14,0 (7,51-15,6) 4,06 0,29 No IG deficiency (1,17- (0,41- treatment 7,47) 1,29) 7# 10 SI, C, B, IgA 14,5 (5,3-13,06) 1,27 0,59 0,29 2,56 Type 3: 30-21, type 4: 9-7, No IG CR, E deficiency, (0,98- (0,15- (0,6-2,7) (0,43 - type 9N: 8-6 treatment SPAD 4,8) 1,49) 2,7) 8# 14 C, B, CR, E IgA 12,6 (5,76-12,65) 0,56 1,28 No IG deficiency (0,81- (0,3- treatment 2,32) 1,59) Legend to the figure: B: bronchiectasis, C: chronic cough, CR: chronic rhinosinusitis, E: recurrent ear infections, Si: situs inversus, SPAD: specific polysaccharide antibody deficiency, SCIG: subcutaneous immunoglobulin, IVIG: intravenous immunoglobulin, * and #pair of sisters. Normal reference values are reported between brackets. might cause PCD as well as HID. Ciliary proteins might play a role in B-cell proliferation or immunoglobulin class-switch and normal ciliary function might be needed for a fully intact immune response to antigen presentation. PCD could cause cytokine dysfunction, which could disturb the immunoglobulin secretion indirectly.Immunedysfunction maybeafeatureof PCD and explain part of the symptom complex. PCD genes could be modifier genes for HID genes or vice versa. Of course, it can be pure coincidence that some patients present with both disorders and that no causal relation is present. The diagnosis of HID can be impor- tant since immunoglobulin substitution is an effective treatment and therefore checking antibody titers should be recommended. Conclusion Patients with PCD may be at increased risk for coinci- dent HID and a underlying link between both disorders might be present. Author details 1 2 UZ Gasthuisberg Leuven, Pediatric Pulmonology, Leuven, Belgium. UZ Gasthuisberg Leuven, Otorhinolaryngology, Leuven, Belgium. UZ Gasthuisberg Leuven, Pediatric Immunology, Leuven, Belgium. Published: 16 July 2013 doi:10.1186/2045-7022-3-S2-P11 Cite this article as: Boon et al.: Primary ciliary dyskinesia and humoral immunodeficiency - what is the missing link? Clinical and Translational Allergy 2013 3(Suppl 2):P11. Submit your next manuscript to BioMed Central and take full advantage of: • Convenient online submission • Thorough peer review • No space constraints or color figure charges • Immediate publication on acceptance • Inclusion in PubMed, CAS, Scopus and Google Scholar • Research which is freely available for redistribution Submit your manuscript at www.biomedcentral.com/submit http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical and Translational Allergy Springer Journals

Primary ciliary dyskinesia and humoral immunodeficiency - what is the missing link?

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Publisher
Springer Journals
Copyright
Copyright © 2013 by Boon et al; licensee BioMed Central Ltd.
Subject
Medicine & Public Health; Allergology; Immunology
eISSN
2045-7022
DOI
10.1186/2045-7022-3-S2-P11
Publisher site
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Abstract

Boon et al. Clinical and Translational Allergy 2013, 3(Suppl 2):P11 http://www.ctajournal.com/content/3/S2/P11 POSTER PRESENTATION Open Access Primary ciliary dyskinesia and humoral immunodeficiency - what is the missing link? 1* 2 1 3 Mieke Boon , Mark Jorissen , Kris De Boeck , Isabelle Meyts From 9th Symposium of Experimental Rhinology and Immunology of the Nose (SERIN 2013) Leuven, Belgium. 21-23 March 2013 Background PCD was confirmed by functional and structural evalua- Primary ciliary dyskinesia (PCD) is a rare disorder (pre- tion of the cilia, including evaluation after ciliogenesis in valence 1/20000), caused by congenital dysmotility of culture, excluding secondary ciliary dyskinesia. the respiratory cilia. Humoral immunodeficiency (HID) often presents in a similar way with recurrent ear, nose Results and sinopulmonary infections, not seldom evolving to We report the coincidence of PCD with HID in 8 chronic lung disease. Although isolated IgG subclass patients (4.6%). Table 1 represents the patient character- deficiencies and IgA deficiency are common conditions, istics. Skorpinski et al already reported on the surprising Common Variable Immunodeficiency (CVID) is more association of PCD and CVID in a single patient. We rare with a prevalence ranging from 1/10000 to 1/50000. have no explanation for this remarkable finding, but hypotheses can be postulated. Hematopoietic cells lack Method primary cilia, but they do express certain intraflagellar We examined the coincidence of PCD with HID in a transport proteins needed for the formation of the large cohort of patients with PCD. The diagnosis of immune synaps. Dysfunction of one of these proteins Table 1 Patient Age Clinical Immuno Laboratory results Treatment (y) presentation deficiency (before start of HID replacement therapy) IgG (g/l) IgG2 IgG3 IgA IgM Pneumococcal antibodies (g/m) (g/l) (g/l) (g/l) (before-after vaccination) (U/ml) 1* 13 SI, C, B, CVID 7,54 (6,35-14,89) 0,5 0,13 0,29 0,23 Type 3: 33-114, type 4: 38- SCIG CR, E (0,63- (0,17- (0,46- (0,47- 23, type 9N: 6-33 3,0) 0,88) 2,51) 2,2) 2* 16 C, B, CR CVID 8,55 (4,78-11,29) 0,38 0,27 0 (0,35- 0,41 Type 3: 26-57, type 4: 8- SCIG (0,72- (0,13- 1,9) (0,34- 54, type 9N:7-66 3,4) 1,33) 1,34) 3 32 SI, C, B, IgG2 and 8,3 (7-16) 1,8 0,18 1,37 0,37 SCIG CR, E IgG3 (2,42- (0,22- (0,7-4,0) (0,4-2,3) deficiency 7,0) 1,76) 4 43 C, B, CR IgG3 9,34 (7,51-15,6) 3,38 0,11 Intermittent deficiency (1,50- (0,20- IVIG 6,40) 1,10) 5 62 SI, C, B, CR IgG2 6,64 (7,51-15,6) 1,14 0,96 1,43 2,71 Intermittent deficiency (1,5-6,4) (0,2-1,1) (0,82- (0,46- IVIG 4,53) 3,04) UZ Gasthuisberg Leuven, Pediatric Pulmonology, Leuven, Belgium Full list of author information is available at the end of the article © 2013 Boon et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Boon et al. Clinical and Translational Allergy 2013, 3(Suppl 2):P11 Page 2 of 2 http://www.ctajournal.com/content/3/S2/P11 Table 1 (Continued) 6 33 C, B, CR, E IgG3 14,0 (7,51-15,6) 4,06 0,29 No IG deficiency (1,17- (0,41- treatment 7,47) 1,29) 7# 10 SI, C, B, IgA 14,5 (5,3-13,06) 1,27 0,59 0,29 2,56 Type 3: 30-21, type 4: 9-7, No IG CR, E deficiency, (0,98- (0,15- (0,6-2,7) (0,43 - type 9N: 8-6 treatment SPAD 4,8) 1,49) 2,7) 8# 14 C, B, CR, E IgA 12,6 (5,76-12,65) 0,56 1,28 No IG deficiency (0,81- (0,3- treatment 2,32) 1,59) Legend to the figure: B: bronchiectasis, C: chronic cough, CR: chronic rhinosinusitis, E: recurrent ear infections, Si: situs inversus, SPAD: specific polysaccharide antibody deficiency, SCIG: subcutaneous immunoglobulin, IVIG: intravenous immunoglobulin, * and #pair of sisters. Normal reference values are reported between brackets. might cause PCD as well as HID. Ciliary proteins might play a role in B-cell proliferation or immunoglobulin class-switch and normal ciliary function might be needed for a fully intact immune response to antigen presentation. PCD could cause cytokine dysfunction, which could disturb the immunoglobulin secretion indirectly.Immunedysfunction maybeafeatureof PCD and explain part of the symptom complex. PCD genes could be modifier genes for HID genes or vice versa. Of course, it can be pure coincidence that some patients present with both disorders and that no causal relation is present. The diagnosis of HID can be impor- tant since immunoglobulin substitution is an effective treatment and therefore checking antibody titers should be recommended. Conclusion Patients with PCD may be at increased risk for coinci- dent HID and a underlying link between both disorders might be present. Author details 1 2 UZ Gasthuisberg Leuven, Pediatric Pulmonology, Leuven, Belgium. UZ Gasthuisberg Leuven, Otorhinolaryngology, Leuven, Belgium. UZ Gasthuisberg Leuven, Pediatric Immunology, Leuven, Belgium. Published: 16 July 2013 doi:10.1186/2045-7022-3-S2-P11 Cite this article as: Boon et al.: Primary ciliary dyskinesia and humoral immunodeficiency - what is the missing link? Clinical and Translational Allergy 2013 3(Suppl 2):P11. Submit your next manuscript to BioMed Central and take full advantage of: • Convenient online submission • Thorough peer review • No space constraints or color figure charges • Immediate publication on acceptance • Inclusion in PubMed, CAS, Scopus and Google Scholar • Research which is freely available for redistribution Submit your manuscript at www.biomedcentral.com/submit

Journal

Clinical and Translational AllergySpringer Journals

Published: Jul 16, 2013

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