Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency

Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency Publisher Pubmed

Sefer AP^{1, 2, 3} ; Abolhassani H^{4, 5, 6} ; Ober F⁷ ; Kayaoglu B⁸ ; Bilgic Eltan S^{1, 2, 3} ; Kara A⁹ ; Erman B^{10, 11} ; Surucu Yilmaz N⁸ ; Aydogmus C¹² ; Aydemir S¹³ ; Charbonnier LM¹⁴ ; Kolukisa B^{1, 2, 3} ; Azizi G¹⁵ ; Delavari S⁴ Show All Authors

Sefer AP^{1, 2, 3}
Abolhassani H^{4, 5, 6}
Ober F⁷
Kayaoglu B⁸
Bilgic Eltan S^{1, 2, 3}
Kara A⁹
Erman B^{10, 11}
Surucu Yilmaz N⁸
Aydogmus C¹²
Aydemir S¹³
Charbonnier LM¹⁴
Kolukisa B^{1, 2, 3}
Azizi G¹⁵
Delavari S⁴
Momen T¹⁶
Aliyeva S¹⁷
Kendir Demirkol Y¹⁸
Tekin S¹⁹
Kiykim A¹³
Baser OF²⁰
Cokugras H¹³
Gursel M⁸
Karakocaydiner E^{1, 2, 3}
Ozen A^{1, 2, 3}
Krappmann D⁷
Chatila TA¹⁴
Rezaei N^{4, 21}
Baris S^{1, 2, 3}

Show Affiliations

1. Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey
2. Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey
3. Marmara University, The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey
4. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
5. Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden
6. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
7. Research Unit Cellular Signal Integration, Institute of Molecular Toxicology and Pharmacology, Helmholtz Zentrum Munchen – German Research Center for Environmental Health, Neuherberg, Germany
8. Department of Biological Sciences, Middle East Technical University, Ankara, Turkey
9. TUBITAK Marmara Research Center, Gene Engineering and Biotechnology Institute, Gebze, Turkey
10. Institute of Child Health, Hacettepe University, Ankara, Turkey
11. Can Sucak Research Laboratory for Translational Immunology, Center for Genomics and Rare Diseases, Hacettepe University, Ankara, Turkey
12. Division of Pediatric Allergy and Immunology, University of Health Sciences, Basaksehir Cam Sakura City Hospital, Istanbul, Turkey
13. Faculty of Medicine, Pediatric Allergy and Immunology, Istanbul University-Cerrahpasa, Istanbul, Turkey
14. Boston Children’s Hospital and Department of Pediatrics, Harvard Medical School, Division of Immunology, Boston, MA, United States
15. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
16. Department of Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
17. Faculty of Medicine, Department of Pediatrics, Marmara University, Istanbul, Turkey
18. Division of Pediatric Genetics, University of Health Sciences, Umraniye Education and Research Hospital, Istanbul, Turkey
19. Hamidiye Faculty of Medicine, Department of Basic Medical Sciences, Division of Medical Biology, University of Health Sciences, Istanbul, Turkey
20. Faculty of Medicine, Pediatric Gastroenterology, Hepatology and Nutrition, Istanbul University-Cerrahpasa, Istanbul, Turkey
21. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Journal of Clinical Immunology Published:2022

Abstract

Purpose: MALT1 deficiency is a combined immune deficiency characterized by recurrent infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological characterizations of the disease have not been previously reported in large cohorts. We sought to determine the clinical, immunological, genetic features, and the natural history of MALT-1 deficiency. Methods: The clinical findings and treatment outcomes were evaluated in nine new MALT1-deficient patients. Peripheral lymphocyte subset analyses, cytokine secretion, and proliferation assays were performed. We also analyzed ten previously reported patients to comprehensively evaluate genotype/phenotype correlation. Results: The mean age of patients and disease onset were 33 ± 17 and 1.6 ± 0.7 months, respectively. The main clinical findings of the disease were recurrent infections (100%), skin involvement (100%), failure to thrive (100%), oral lesions (67%), chronic diarrhea (56%), and autoimmunity (44%). Eosinophilia and high IgE were observed in six (67%) and two (22%) patients, respectively. The majority of patients had normal T and NK cells, while eight (89%) exhibited reduced B cells. Immunoglobulin replacement and antibiotics prophylaxis were mostly ineffective in reducing the frequency of infections and other complications. One patient received hematopoietic stem cell transplantation (HSCT) and five patients died as a complication of life-threatening infections. Analyzing this cohort with reported patients revealed overall survival in 58% (11/19), which was higher in patients who underwent HSCT (P = 0.03). Conclusion: This cohort provides the largest analysis for clinical and immunological features of MALT1 deficiency. HSCT should be offered as a curative therapeutic option for all patients at the early stage of life. © 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

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Style	Citing Format
MLA	Sefer AP, et al.. "Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency." Journal of Clinical Immunology, vol. 42, no. 3, 2022, pp. 634-652.
APA	Sefer AP, Abolhassani H, Ober F, Kayaoglu B, Bilgic Eltan S, Kara A, Erman B, Surucu Yilmaz N, Aydogmus C, Aydemir S, Charbonnier LM, Kolukisa B, Azizi G, Delavari S, Momen T, Aliyeva S, Kendir Demirkol Y, Tekin S, Kiykim A, ... Baris S (2022). Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency. Journal of Clinical Immunology, 42(3), 634-652.
Chicago	Sefer AP, Abolhassani H, Ober F, Kayaoglu B, Bilgic Eltan S, Kara A, Erman B, et al.. "Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency." Journal of Clinical Immunology 42, no. 3 (2022): 634-652.
Harvard	Sefer AP et al. (2022) 'Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency', Journal of Clinical Immunology, 42(3), pp. 634-652.
Vancouver	Sefer AP, Abolhassani H, Ober F, Kayaoglu B, Bilgic Eltan S, Kara A, et al.. Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency. Journal of Clinical Immunology. 2022;42(3):634-652.
BibTex	@article{ author = {Sefer AP and Abolhassani H and Ober F and Kayaoglu B and Bilgic Eltan S and Kara A and Erman B and Surucu Yilmaz N and Aydogmus C and Aydemir S and Charbonnier LM and Kolukisa B and Azizi G and Delavari S and Momen T and Aliyeva S and Kendir Demirkol Y and Tekin S and Kiykim A and Baser OF and Cokugras H and Gursel M and Karakocaydiner E and Ozen A and Krappmann D and Chatila TA and Rezaei N and Baris S}, title = {Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency}, journal = {Journal of Clinical Immunology}, volume = {42}, number = {3}, pages = {634-652}, year = {2022} }
RIS	TY - JOUR AU - Sefer AP AU - Abolhassani H AU - Ober F AU - Kayaoglu B AU - Bilgic Eltan S AU - Kara A AU - Erman B AU - Surucu Yilmaz N AU - Aydogmus C AU - Aydemir S AU - Charbonnier LM AU - Kolukisa B AU - Azizi G AU - Delavari S AU - Momen T AU - Aliyeva S AU - Kendir Demirkol Y AU - Tekin S AU - Kiykim A AU - Baser OF AU - Cokugras H AU - Gursel M AU - Karakocaydiner E AU - Ozen A AU - Krappmann D AU - Chatila TA AU - Rezaei N AU - Baris S TI - Expanding the Clinical and Immunological Phenotypes and Natural History of Malt1 Deficiency JO - Journal of Clinical Immunology VL - 42 IS - 3 SP - 634 EP - 652 PY - 2022 ER -

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