scholarly journals Severe congenital neutropenia associated with the ELANE gene in Chinese children: case report

2018 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Liwei Gao ◽  
Jianxin He ◽  
Runhui Wu
Keyword(s):  
Case Report ◽  
Chinese Children ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia

The importance of dental care for a child with severe congenital neutropenia: a case report

2010 ◽  
Vol 30 (6) ◽  
pp. 261-265 ◽  
Author(s):  
Andréa Gonçalves Antonio ◽  
Paula Cristina da Costa Alcantara ◽  
Maria Eliza Barboza Ramos ◽  
Ivete Pomarico Ribeiro De Souza
Keyword(s):  
Case Report ◽  
Dental Care ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia

Severe congenital neutropenia with mastoidectomy: A case report of HAX1

2021 ◽  
Author(s):  
Tuğçe Kandemir ◽  
Mutlu Uysal Yazici ◽  
Emre Ocak ◽  
Ebru Azapagasi ◽  
Fatma Nur Öz ◽  
...  
Keyword(s):  
Case Report ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia

scholarly journals Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Tham Thi Tran ◽  
Quang Van Vu ◽  
Taizo Wada ◽  
Akihiro Yachie ◽  
Huong Le Thi Minh ◽  
...  
Keyword(s):  
Early Onset ◽  
Bacterial Infections ◽  
Complete Blood Count ◽  
Hereditary Diseases ◽  
Severe Neutropenia ◽  
Sequencing Analysis ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Direct Dna Sequencing ◽  
Life Threatening

Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases. Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening infections, and preleukemia predisposition. A 7-year-old boy was admitted due to life-threatening infections, mental retardation, and severe neutropenia. He had early-onset bacterial infections, and his serial complete blood count showed persistent severe neutropenia. One older sister and one older brother of the patient died at the age of 6 months and 5 months, respectively, because of severe infection. Bone marrow analysis revealed a maturation arrest at the promyelocyte/myelocyte stage with few mature neutrophils. In direct DNA sequencing analysis, we found a novel homozygous frameshift mutation (c.423_424insG, p.Gly143fs) in the HAX1 gene, confirming the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor (G-CSF) and antibiotics. A child with early-onset recurrent infections and neutropenia should be considered to be affected with SCN. Genetic analysis is useful to confirm diagnosis. Timely diagnosis and suitable treatment with G-CSF and antibiotics are important to prevent further complication.

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