,
Haifa Al Awadi,
Praseetha Kizhakkedath,
Ibrahim Baydoun,
Mohammed Tabouni,
Hiba Alblooshi,
Fatma Al-Jasmi,
Aisha Al Shamsi,
Hiba Mohammed Shendi*
Background: Specific granulocyte deficiency type 2(SGD2) is a rare disorder of neutrophil defect caused by mutation in SMARCD2 gene characterized by neutropenia, recurrent infections, skin and mucosal ulceration. Objective: We aim to describe a symptomatic patient with a novel homozygous nonsense variant in SMARCD2 to help expand the phenotypic description of this rare disease. Methods: A retrospective chart review was conducted on our patient. Data collection included information on demographic, clinical and laboratory data. Results: We report a 4 years old boy with history of delayed separation of cord, recurrent sepsis, skin infections as well as mucocutaneous ulceration, gastrointestinal bleeding and Epstein Barr virus induced lymphoproliferation. He had variable neutropenia, bone marrow biopsy revealed hypogranular neutrophils and no blast excess. Whole genome analysis detected a novel homozygous variant in SMARCD2 gene c.208C > T p.(Gln70*). Conclusion: This case report aims to provide insight on additional clinical and molecular features of SGD2. It also sheds light on potential role of SMARCD2 gene in other immune cells.
| Published in | International Journal of Immunology (Volume 12, Issue 4) |
| DOI | 10.11648/j.iji.20241204.11 |
| Page(s) | 52-58 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Inborn Errors of Immunity, Neutropenia, SMARCD2, Specific Granulocyte Deficiency
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APA Style
Kuwaiti, A. A. A., Awadi, H. A., Kizhakkedath, P., Baydoun, I., Tabouni, M., et al. (2024). A Novel Nonsense Homozygous Mutation in SMARCD2 Gene Causing Specific Granulocyte Deficiency Type 2: Case Report. International Journal of Immunology, 12(4), 52-58. https://doi.org/10.11648/j.iji.20241204.11
ACS Style
Kuwaiti, A. A. A.; Awadi, H. A.; Kizhakkedath, P.; Baydoun, I.; Tabouni, M., et al. A Novel Nonsense Homozygous Mutation in SMARCD2 Gene Causing Specific Granulocyte Deficiency Type 2: Case Report. Int. J. Immunol. 2024, 12(4), 52-58. doi: 10.11648/j.iji.20241204.11
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Download@article{10.11648/j.iji.20241204.11,
author = {Amna Ali Al Kuwaiti and Haifa Al Awadi and Praseetha Kizhakkedath and Ibrahim Baydoun and Mohammed Tabouni and Hiba Alblooshi and Fatma Al-Jasmi and Aisha Al Shamsi and Hiba Mohammed Shendi},
title = {A Novel Nonsense Homozygous Mutation in SMARCD2 Gene Causing Specific Granulocyte Deficiency Type 2: Case Report
},
journal = {International Journal of Immunology},
volume = {12},
number = {4},
pages = {52-58},
doi = {10.11648/j.iji.20241204.11},
url = {https://doi.org/10.11648/j.iji.20241204.11},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.iji.20241204.11},
abstract = {Background: Specific granulocyte deficiency type 2(SGD2) is a rare disorder of neutrophil defect caused by mutation in SMARCD2 gene characterized by neutropenia, recurrent infections, skin and mucosal ulceration. Objective: We aim to describe a symptomatic patient with a novel homozygous nonsense variant in SMARCD2 to help expand the phenotypic description of this rare disease. Methods: A retrospective chart review was conducted on our patient. Data collection included information on demographic, clinical and laboratory data. Results: We report a 4 years old boy with history of delayed separation of cord, recurrent sepsis, skin infections as well as mucocutaneous ulceration, gastrointestinal bleeding and Epstein Barr virus induced lymphoproliferation. He had variable neutropenia, bone marrow biopsy revealed hypogranular neutrophils and no blast excess. Whole genome analysis detected a novel homozygous variant in SMARCD2 gene c.208C > T p.(Gln70*). Conclusion: This case report aims to provide insight on additional clinical and molecular features of SGD2. It also sheds light on potential role of SMARCD2 gene in other immune cells.
},
year = {2024}
}
TY - JOUR T1 - A Novel Nonsense Homozygous Mutation in SMARCD2 Gene Causing Specific Granulocyte Deficiency Type 2: Case Report AU - Amna Ali Al Kuwaiti AU - Haifa Al Awadi AU - Praseetha Kizhakkedath AU - Ibrahim Baydoun AU - Mohammed Tabouni AU - Hiba Alblooshi AU - Fatma Al-Jasmi AU - Aisha Al Shamsi AU - Hiba Mohammed Shendi Y1 - 2024/12/31 PY - 2024 N1 - https://doi.org/10.11648/j.iji.20241204.11 DO - 10.11648/j.iji.20241204.11 T2 - International Journal of Immunology JF - International Journal of Immunology JO - International Journal of Immunology SP - 52 EP - 58 PB - Science Publishing Group SN - 2329-1753 UR - https://doi.org/10.11648/j.iji.20241204.11 AB - Background: Specific granulocyte deficiency type 2(SGD2) is a rare disorder of neutrophil defect caused by mutation in SMARCD2 gene characterized by neutropenia, recurrent infections, skin and mucosal ulceration. Objective: We aim to describe a symptomatic patient with a novel homozygous nonsense variant in SMARCD2 to help expand the phenotypic description of this rare disease. Methods: A retrospective chart review was conducted on our patient. Data collection included information on demographic, clinical and laboratory data. Results: We report a 4 years old boy with history of delayed separation of cord, recurrent sepsis, skin infections as well as mucocutaneous ulceration, gastrointestinal bleeding and Epstein Barr virus induced lymphoproliferation. He had variable neutropenia, bone marrow biopsy revealed hypogranular neutrophils and no blast excess. Whole genome analysis detected a novel homozygous variant in SMARCD2 gene c.208C > T p.(Gln70*). Conclusion: This case report aims to provide insight on additional clinical and molecular features of SGD2. It also sheds light on potential role of SMARCD2 gene in other immune cells. VL - 12 IS - 4 ER -
Division of Pediatric Allergy / Immunology, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
Division of Pediatric Gastroenterology, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates
Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates
Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates
Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates
Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
Division of Genetics, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
Division of Pediatric Allergy / Immunology, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
