Long-Term Outcome of Lrba Deficiency in 76 Patients After Various Treatment Modalities As Evaluated by the Immune Deficiency and Dysregulation Activity (Idda) Score

Long-Term Outcome of Lrba Deficiency in 76 Patients After Various Treatment Modalities As Evaluated by the Immune Deficiency and Dysregulation Activity (Idda) Score Publisher Pubmed

Tesch VK^{1, 2} ; Abolhassani H^{3, 17} ; Shadur B^{4, 47} ; Zobel J⁵ ; Mareika Y⁶ ; Sharapova S⁷ ; Karakocaydiner E^{8, 9} ; Riviere JG^{10, 11} ; Garciaprat M^{10, 11} ; Moes N¹² ; Haerynck F¹³ ; Gonzalesgranado LI¹⁴ ; Santos Perez JL¹⁵ ; Mukhina A¹⁶ Show All Authors

Tesch VK^{1, 2}
Abolhassani H^{3, 17}
Shadur B^{4, 47}
Zobel J⁵
Mareika Y⁶
Sharapova S⁷
Karakocaydiner E^{8, 9}
Riviere JG^{10, 11}
Garciaprat M^{10, 11}
Moes N¹²
Haerynck F¹³
Gonzalesgranado LI¹⁴
Santos Perez JL¹⁵
Mukhina A¹⁶
Shcherbina A¹⁶
Aghamohammadi A¹⁷
Hammarstrom L³
Dogu F¹⁸
Haskologlu S¹⁸
Ikinciogullari AI¹⁸
Kostel Bal S^{18, 19, 20}
Baris S^{8, 9}
Kilic SS²¹
Karaca NE²²
Kutukculer N²²
Girschick H²³
Kolios A²⁴
Keles S²⁵
Uygun V²⁵
Stepensky P⁴
Worth A²⁶
Van Montfrans JM²⁷
Peters AMJ²⁸
Meyts I²⁹
Adeli M³⁰
Marzollo A³¹
Padem N³²
Khojah AM³²
Chavoshzadeh Z³³
Avbelj Stefanija M³⁴
Bakhtiar S³⁵
Florkin B³⁶
Meeths M³⁷
Gamez L³⁸
Grimbacher B^{38, 39, 40, 41}
Seppanen MRJ^{42, 43, 44}
Lankester A⁴⁵
Gennery AR⁴⁶
Seidel MG^{1, 2}

Show Affiliations

1. Research Unit for Pediatric Hematology and Immunology, Medical University Graz, Graz, Austria
2. Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria
3. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
4. Department of Bone Marrow Transplantation, Hadassah, Hebrew University Medical Centre, Jerusalem, Israel
5. Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria
6. Bone Marrow Transplantation Unit, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus
7. Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus
8. Faculty of Medicine, Pediatric Immunology and Allergy Division, Marmara University, Istanbul, Turkey
9. Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey
10. Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Universitat Autonoma de Barcelona, Barcelona, Spain
11. Jeffrey Modell Foundation Excellence Center, Barcelona, Spain
12. Department of Pediatric Gastroenterology, Antwerp University Hospital, Edegem, and Laboratory of Experimental Medicine and Pediatrics, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium
13. Primary Immune Deficiency Research Lab and Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium
14. Immunodeficiencies Unit, Hospital 12 de Octubre, Research Institute Hospital 12 Octubre (i+12), Madrid, Spain
15. Infectious Diseases and Immunodeficiencies Unit, Service of Pediatrics, Hospital Universitario Virgen de las Nieves, Granada, Spain
16. Immunology, the Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
17. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran
18. Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey
19. Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria
20. CeMM Research Center for Molecular Medicine, Austrian Academy of Sciences, Vienna, Austria
21. Pediatric Immunology-Rheumatology, Medical Faculty Department of Pediatrics, Uludag University Bursa, Bursa, Turkey
22. Ege University Faculty of Medicine, Department of Pediatric Immunology, Izmir, Turkey
23. Children's Hospital, Vivantes Berlin Friedrichshain, Berlin, Germany
24. Department of Immunology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
25. Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey
26. Institute of Child Health, University College London, London, United Kingdom
27. Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, UMC Utrecht, The Netherlands, Netherlands
28. Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center-University of Freiburg, Freiburg, Germany
29. Department of Pediatrics, University Hospitals Leuven, and the Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium
30. Sidra Medicine/Hamad Medical Corporation, Doha, Qatar
31. Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, Azienda Ospedaliera-University of Padova, Padova, Italy
32. Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Ill, United States
33. Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
34. Department of Pediatric Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
35. Division for Stem Cell Transplantation and Immunology, University Hospital Frankfurt, Frankfurt, Germany
36. Immuno-Hemato-Rhumatologie Pediatrique, Service de Pediatrie, CHR Citadelle, Liege, Belgium
37. Childhood Cancer Research Unit, Department of Women's and Children's Health and Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden
38. Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany
39. DZIF-German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany
40. Centre for Integrative Biological Signalling Studies, Albert-Ludwigs University, Freiburg, Germany
41. RESIST-Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany
42. Rare Diseases Center and Pediatric Research Center, Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland
43. Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki, and HUS Helsinki University Hospital, Helsinki, Finland
44. Translational Immunology, Research Programs Unit and Clinicum, University of Helsinki, Helsinki, Finland
45. Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands, Netherlands
46. Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom
47. Garvan Institute of Medical Research, Department of Immunology, Darlinghurst, Australia

Source: Journal of Allergy and Clinical Immunology Published:2020

Abstract

Background: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous patient reports or meta-reviews are scarce for those patients who do not receive a transplant. Objective: This international retrospective study was conducted to elucidate the longitudinal clinical course of patients with LRBA deficiency who do and do not receive a transplant. Method: We assessed disease burden and treatment responses with a specially developed immune deficiency and dysregulation activity score, reflecting the sum and severity of organ involvement and infections, days of hospitalization, supportive care requirements, and performance indices. Results: Of 76 patients with LRBA deficiency from 29 centers (median follow-up, 10 years; range, 1-52), 24 underwent HSCT from 2005 to 2019. The overall survival rate after HSCT (median follow-up, 20 months) was 70.8% (17 of 24 patients); all deaths were due to nonspecific, early, transplant-related mortality. Currently, 82.7% of patients who did not receive a transplant (43 of 52; age range, 3-69 years) are alive. Of 17 HSCT survivors, 7 are in complete remission and 5 are in good partial remission without treatment (together, 12 of 17 [70.6%]). In contrast, only 5 of 43 patients who did not receive a transplant (11.6%) are without immunosuppression. Immune deficiency and dysregulation activity scores were significantly lower in patients who survived HSCT than in those receiving conventional treatment (P = .005) or in patients who received abatacept or sirolimus as compared with other therapies, and in patients with residual LRBA expression. Higher disease burden, longer duration before HSCT, and lung involvement were associated with poor outcome. Conclusion: The lifelong disease activity, implying a need for immunosuppression and risk of malignancy, must be weighed against the risks of HSCT. © 2019 The Authors

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Style	Citing Format
MLA	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." Journal of Allergy and Clinical Immunology, vol. 145, no. 5, 2020, pp. 1452-1463.
APA	Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakocaydiner E, Riviere JG, Garciaprat M, Moes N, Haerynck F, Gonzalesgranado LI, Santos Perez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarstrom L, Dogu F, Haskologlu S, ... Seidel MG (2020). Long-Term Outcome of Lrba Deficiency in 76 Patients After Various Treatment Modalities As Evaluated by the Immune Deficiency and Dysregulation Activity (Idda) Score. Journal of Allergy and Clinical Immunology, 145(5), 1452-1463.
Chicago	Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakocaydiner E, 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." Journal of Allergy and Clinical Immunology 145, no. 5 (2020): 1452-1463.
Harvard	Tesch VK et al. (2020) 'Long-Term Outcome of Lrba Deficiency in 76 Patients After Various Treatment Modalities As Evaluated by the Immune Deficiency and Dysregulation Activity (Idda) Score', Journal of Allergy and Clinical Immunology, 145(5), pp. 1452-1463.
Vancouver	Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, 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. Journal of Allergy and Clinical Immunology. 2020;145(5):1452-1463.
BibTex	@article{ author = {Tesch VK and Abolhassani H and Shadur B and Zobel J and Mareika Y and Sharapova S and Karakocaydiner E and Riviere JG and Garciaprat M and Moes N and Haerynck F and Gonzalesgranado LI and Santos Perez JL and Mukhina A and Shcherbina A and Aghamohammadi A and Hammarstrom L and Dogu F and Haskologlu S and Ikinciogullari AI and Kostel Bal S and Baris S and Kilic SS and Karaca NE and Kutukculer N and Girschick H and Kolios A and Keles S and Uygun V and Stepensky P and Worth A and Van Montfrans JM and Peters AMJ and Meyts I and Adeli M and Marzollo A and Padem N and Khojah AM and Chavoshzadeh Z and Avbelj Stefanija M and Bakhtiar S and Florkin B and Meeths M and Gamez L and Grimbacher B and Seppanen MRJ and Lankester A and Gennery AR and Seidel MG}, title = {Long-Term Outcome of Lrba Deficiency in 76 Patients After Various Treatment Modalities As Evaluated by the Immune Deficiency and Dysregulation Activity (Idda) Score}, journal = {Journal of Allergy and Clinical Immunology}, volume = {145}, number = {5}, pages = {1452-1463}, year = {2020} }
RIS	TY - JOUR AU - Tesch VK AU - Abolhassani H AU - Shadur B AU - Zobel J AU - Mareika Y AU - Sharapova S AU - Karakocaydiner E AU - Riviere JG AU - Garciaprat M AU - Moes N AU - Haerynck F AU - Gonzalesgranado LI AU - Santos Perez JL AU - Mukhina A AU - Shcherbina A AU - Aghamohammadi A AU - Hammarstrom L AU - Dogu F AU - Haskologlu S AU - Ikinciogullari AI AU - Kostel Bal S AU - Baris S AU - Kilic SS AU - Karaca NE AU - Kutukculer N AU - Girschick H AU - Kolios A AU - Keles S AU - Uygun V AU - Stepensky P AU - Worth A AU - Van Montfrans JM AU - Peters AMJ AU - Meyts I AU - Adeli M AU - Marzollo A AU - Padem N AU - Khojah AM AU - Chavoshzadeh Z AU - Avbelj Stefanija M AU - Bakhtiar S AU - Florkin B AU - Meeths M AU - Gamez L AU - Grimbacher B AU - Seppanen MRJ AU - Lankester A AU - Gennery AR AU - Seidel MG TI - Long-Term Outcome of Lrba Deficiency in 76 Patients After Various Treatment Modalities As Evaluated by the Immune Deficiency and Dysregulation Activity (Idda) Score JO - Journal of Allergy and Clinical Immunology VL - 145 IS - 5 SP - 1452 EP - 1463 PY - 2020 ER -

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