Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation inFERMT3-Reference-Cited by-同舟云学术

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation inFERMT3

Published:2015-10-22 Issue:2 Volume:27 Page:214-217
ISSN:0905-6157
Container-title:Pediatric Allergy and Immunology
language:en
Short-container-title:Pediatr Allergy Immunol

Author:

Suratannon Narissara¹²,Yeetong Patra³⁴⁵,Srichomthong Chalurmpon³⁴,Amarinthnukrowh Pramuk³⁴,Chatchatee Pantipa¹,Sosothikul Darintr⁶,van Hagen P. Martin²⁷,van der Burg Mirjam²,Wentink Marjolein²,Driessen Gertjan J.²⁸,Suphapeetiporn Kanya³⁴⁹,Shotelersuk Vorasuk³⁴

Affiliation:

1. Division of Allergy and Immunology; Department of Pediatrics; Faculty of Medicine; Chulalongkorn University; Bangkok Thailand

2. Department of Immunology; Erasmus Medical Center; Rotterdam the Netherlands

3. Center of Excellence for Medical Genetics; Chulalongkorn University; Bangkok Thailand

4. Excellence Center for Medical Genetics; King Chulalongkorn Memorial Hospital; The Thai Red Cross Society; Bangkok Thailand

5. Department of Botany; Faculty of Science; Chulalongkorn University; Bangkok Thailand

6. Division of Pediatric Hematology/Oncology; Department of Pediatrics; Faculty of Medicine; Chulalongkorn University; Bangkok Thailand

7. Department of Internal Medicine; Erasmus Medical Center; Rotterdam the Netherlands

8. Department of Pediatric Infectious Disease and Immunology; Erasmus Medical Center; Rotterdam the Netherlands

9. Division of Medical Genetics and Metabolism; Department of Pediatrics; Faculty of Medicine; Chulalongkorn University; Bangkok Thailand

Funder

Thailand Research Fund

Chulalongkorn University

Publisher

Wiley

Subject

Immunology,Immunology and Allergy,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pai.12485/fullpdf

Reference11 articles.

1. Leukocyte adhesion deficiencies;Hanna;Ann N Y Acad Sci,2012

2. Defects in the leukocyte adhesion cascade;Etzioni;Clin Rev Allergy Immunol,2010

3. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1;Kilic;J Clin Immunol,2009

4. Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation;Svensson;Nat Med,2009

5. A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans;Malinin;Nat Med,2009

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3. Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India;Pediatric Hematology Oncology Journal;2023-03

4. A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family;Journal of Clinical Immunology;2023-01-17

5. Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss;Journal of Pediatric Genetics;2021-08-20