BPG is committed to discovery and dissemination of knowledge
Featured Articles
9/7/2022 12:08:16 PM | Browse: 217 | Download: 681
 |
Received |
|
2022-04-22 03:58 |
|
Peer-Review Started |
|
2022-04-22 04:00 |
 |
To Make the First Decision |
|
|
|
Return for Revision |
|
2022-05-31 03:12 |
|
Revised |
|
2022-06-10 02:06 |
|
Second Decision |
|
2022-08-18 03:10 |
|
Accepted by Journal Editor-in-Chief |
|
|
|
Accepted by Company Editor-in-Chief |
|
2022-08-22 19:30 |
|
Articles in Press |
|
2022-08-22 19:30 |
|
Publication Fee Transferred |
|
|
|
Edit the Manuscript by Language Editor |
|
|
|
Typeset the Manuscript |
|
2022-09-01 09:12 |
|
Publish the Manuscript Online |
|
2022-09-07 10:31 |
| ISSN |
2219-2808 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
|
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yiwa Suksawat, Punchama Pacharn, Nunthana Siripipattanamongkol and Boonchai Boonyawat |
| Funding Agency and Grant Number |
|
| Corresponding Author |
Yiwa Suksawat, MD, Doctor, Division of Allergy and Immunology, Department of Pediatrics, Phramongkutklao Hospital and Phramongkutklao College of Medicine, 315 Rajavithi road, Ratchathewi , Bangkok 10400, Thailand. yiwasuksawat@pcm.ac.th |
| Key Words |
Leukocyte adhesion defect; ITGB2; Omphalitis; Bacterial soft tissue infection; Molecular investigation; Case report |
| Core Tip |
Leukocyte adhesion defect (LAD) is a rare autosomal recessive primary immunodeficiency disorder characterized by defects in the leukocyte recruitment cascade. LAD type 1, caused by a mutation in ITGB2, is the most common form. Here, we report the first two cases of LAD type 1 with a molecularly confirmed ITGB2 mutation in Thailand. At the time of initial presentation, both patients had recurrent omphalitis, bacterial soft tissue infection, and marked leukocytosis. Molecular analysis revealed two missense variants and one nonsense mutation. Early identification of these patients by molecular analysis was proven essential for definitive diagnosis, proper antibiotic prophylaxis, and initiation of matched donor hematopoietic stem cell transplantation. |
| Publish Date |
2022-09-07 10:31 |
| Citation |
Suksawat Y, Pacharn P, Siripipattanamongkol N, Boonyawat B. Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports. World J Clin Pediatr 2022; 11(5): 429-436 |
| URL |
https://www.wjgnet.com/2219-2808/full/v11/i5/429.htm |
| DOI |
https://dx.doi.org/10.5409/wjcp.v11.i5.429 |
© 2004-2024 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
California Corporate Number: 3537345
