Data Availability
The data that support the findings of this study are available from the corresponding author, upon reasonable request.
References
Kaksonen M, Roux A. Mechanisms of clathrin-mediated endocytosis. Nat Rev Mol Cell Biol. 2018;19:313–26.
Cocucci E, Aguet F, Boulant S, Kirchhausen T. The first five seconds in the life of a clathrin-coated pit. Cell. 2012;150:495–507.
Azarnia Tehran D, Lopez-Hernandez T, Maritzen T. Endocytic adaptor proteins in health and disease: lessons from model organisms and human mutations. Cells 2019;8(11):1345.
Lyszkiewicz M, Zietara N, Frey L, Pannicke U, Stern M, Liu Y, et al. Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells. Nat Commun. 2020;11:1031.
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, et al. F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects. J Allergy Clin Immunol. 2019;143(2317–21):e12.
Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, et al. CD55 deficiency, early-onset protein-losing enteropathy, and thrombosis. N Engl J Med. 2017;377:52–61.
Valenzise M, Aversa T, Salzano G, Zirilli G, De Luca F, Su M. Novel insight into chronic ınflammatory demyelinating polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children. Ital J Pediatr. 2017;43:11.
Yildirim M, Ayvaz DC, Konuskan B, Gocmen R, Tezcan I, Topcu M, et al. Neurologic ınvolvement in primary ımmunodeficiency disorders. J Child Neurol. 2018;33:320–8.
Ozen A. CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann’s disease. Immunol Rev. 2019;287:20–32.
Funding
The research was supported by the Sidra Precision Medicine Program (SDR400013, SDR200018).
Author information
Authors and Affiliations
Contributions
SA, AK, AI, HC, FC, and OFB followed the patient. YY, SN, and GB performed the bone marrow transplantation and provided the procedure’s data. SZH prepared the samples for whole genome sequencing, and BL analyzed the data. AO and AK coordinated the overall direction of the study. YKD performed Sanger analyses of the siblings. All authors read and provided appropriate feedback on the submitted manuscript. Correspondence should be addressed to ahmet.ozen@marmara.edu.tr or dr_gora@yahoo.com.
Corresponding authors
Ethics declarations
Ethical Approval
This study was approved by Marmara University Ethical Committee (IRB number: 9.2020.263) and Sidra Medicine (IRB: 1,601,002,512).
Consent to Participate
An informed consent was obtained from the patient and parents for participating this study.
Consent to Publish
An informed consent was obtained from the patient and parents for publishing this study.
Competing Interests
The authors declare no competing interests.
Disclaimer
The findings herein reflect the work and are solely the responsibility of the authors.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary information
ESM 1
(DOCX 21.4 kb)
Rights and permissions
About this article
Cite this article
Aydemir, S., Islek, A., Nepesov, S. et al. Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency. J Clin Immunol 41, 1406–1410 (2021). https://doi.org/10.1007/s10875-021-01042-2
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10875-021-01042-2