Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India
Leukocyte adhesion deficiency (LAD) Type-III is caused by homozygous mutations in FERMT3 causing Kindlin-3 deficiency. Here we describe three children with molecularly proven LAD-III presenting with neonatal onset mucocutaneous bleeding, infections and persistent neutrophilic leukocytosis. CD18 and...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-03-01
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| Series: | Pediatric Hematology Oncology Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468124522005216 |
| _version_ | 1797854508495142912 |
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| author | Akshaya Chougule Prasad Taur Vaishnavi V. Iyengar Vijaya Gowri Bipin P. Kulkarni Manisha R. Madkaikar Minnie Bodhanwala Mukesh M. Desai |
| author_facet | Akshaya Chougule Prasad Taur Vaishnavi V. Iyengar Vijaya Gowri Bipin P. Kulkarni Manisha R. Madkaikar Minnie Bodhanwala Mukesh M. Desai |
| author_sort | Akshaya Chougule |
| collection | DOAJ |
| description | Leukocyte adhesion deficiency (LAD) Type-III is caused by homozygous mutations in FERMT3 causing Kindlin-3 deficiency. Here we describe three children with molecularly proven LAD-III presenting with neonatal onset mucocutaneous bleeding, infections and persistent neutrophilic leukocytosis. CD18 and CD11a expression on neutrophils was normal in all three, thus ruling out LAD-I. All three had normal platelet glycoprotein expression. Platelet aggregation studies in P2 showed an abnormality similar to Glanzmann thrombasthenia. This article aims to highlight clinical and laboratory clues to the diagnosis of LAD-III, aiding prompt administration of prophylaxis and curative therapy of haematopoietic stem cell transplant. |
| first_indexed | 2024-04-09T20:07:11Z |
| format | Article |
| id | doaj.art-09e0c1d7cc2e45dd9b9b317efe3b63a1 |
| institution | Directory Open Access Journal |
| issn | 2468-1245 |
| language | English |
| last_indexed | 2024-04-09T20:07:11Z |
| publishDate | 2023-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatric Hematology Oncology Journal |
| spelling | doaj.art-09e0c1d7cc2e45dd9b9b317efe3b63a12023-04-01T08:50:48ZengElsevierPediatric Hematology Oncology Journal2468-12452023-03-018149Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in IndiaAkshaya Chougule0Prasad Taur1Vaishnavi V. Iyengar2Vijaya Gowri3Bipin P. Kulkarni4Manisha R. Madkaikar5Minnie Bodhanwala6Mukesh M. Desai7Department of Paediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, IndiaDepartment of Paediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, IndiaDepartment of Paediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, IndiaDepartment of Paediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, IndiaDepartment of Haemostasis and Thrombosis, Indian Council of Medical Research, National Institute of Immunohaematology, Mumbai, IndiaDepartment of Paediatric Immunology and Leukocyte Biology, Indian Council of Medical Research, National Institute of Immunohaematology, Mumbai, IndiaDepartment of Paediatrics, Bai Jerbai Wadia Hospital for Children, Mumbai, IndiaDepartment of Paediatric Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India; Corresponding author. Department of Immunology, Hematology – Oncology, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, 400012, India.Leukocyte adhesion deficiency (LAD) Type-III is caused by homozygous mutations in FERMT3 causing Kindlin-3 deficiency. Here we describe three children with molecularly proven LAD-III presenting with neonatal onset mucocutaneous bleeding, infections and persistent neutrophilic leukocytosis. CD18 and CD11a expression on neutrophils was normal in all three, thus ruling out LAD-I. All three had normal platelet glycoprotein expression. Platelet aggregation studies in P2 showed an abnormality similar to Glanzmann thrombasthenia. This article aims to highlight clinical and laboratory clues to the diagnosis of LAD-III, aiding prompt administration of prophylaxis and curative therapy of haematopoietic stem cell transplant.http://www.sciencedirect.com/science/article/pii/S2468124522005216LeukocytosisBleeding tendenciesPrimary immunodeficiencyLeukocyte adhesion deficiency type-III |
| spellingShingle | Akshaya Chougule Prasad Taur Vaishnavi V. Iyengar Vijaya Gowri Bipin P. Kulkarni Manisha R. Madkaikar Minnie Bodhanwala Mukesh M. Desai Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India Pediatric Hematology Oncology Journal Leukocytosis Bleeding tendencies Primary immunodeficiency Leukocyte adhesion deficiency type-III |
| title | Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India |
| title_full | Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India |
| title_fullStr | Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India |
| title_full_unstemmed | Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India |
| title_short | Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India |
| title_sort | clinical features laboratory and molecular findings of children with leukocyte adhesion deficiency type iii from a single center in india |
| topic | Leukocytosis Bleeding tendencies Primary immunodeficiency Leukocyte adhesion deficiency type-III |
| url | http://www.sciencedirect.com/science/article/pii/S2468124522005216 |
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