HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient
| Autor: | Gonca Keskindemirci, Aysenur Akinel, Funda Erol Cipe, Özlem Başoğlu Öner, Helen Bornaun, Günsel Kutluk, Cigdem Aydogmus, Melda Tas, Arzu Babayigit Hocaoglu |
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| Rok vydání: | 2015 |
| Předmět: |
Male
medicine.medical_specialty Pediatrics Neutropenia Adolescent Genetic counseling Immunology 030204 cardiovascular system & hematology Asymptomatic 03 medical and health sciences 0302 clinical medicine Granulocyte Colony-Stimulating Factor medicine Immunology and Allergy Congenital Bone Marrow Failure Syndromes Humans Congenital Neutropenia Child Stomatitis Adaptor Proteins Signal Transducing Retrospective Studies medicine.diagnostic_test business.industry Complete blood count Retrospective cohort study General Medicine medicine.disease Surgery nervous system 030220 oncology & carcinogenesis Child Preschool Mutation Absolute neutrophil count Female sense organs medicine.symptom business |
| Zdroj: | Asian Pacific journal of allergy and immunology. 34(1) |
| ISSN: | 0125-877X |
| Popis: | Background: Mutation in HAX-1gene cause an autosomal recessive form of Severe congenital neutropenia ( SCN ) and it particularly manifests with recurrent skin, lung and deep tissue infections from the first few months of life.The present study retrospectively evaluated the clinical and laboratory findings of the patients diagnosed with SCN carrying HAX1 gene mutation. Patients and Results: A total of five patients, who were diagnosed with SCN carrying HAX1 mutations, were evaluated in terms of clinical and laboratory findings. Of the five patients, three were girls and two were boys, and the mean age of the patients was 8,8 years old (range 4 - 15 years). The mean age of diagnosis was 25.8 months (range 2 months- 5 years). The infections diagnosed included recurrent gingivitis, stomatitis, and skin and soft tissue abscesses. Developmental retardation and epilepsy were present only one patient, whereas speech retardation was present in two patients.All of our patients had HAX-1 mutation, and are still alive and none of them has shown malignant transformation yet. Conclusion: Complete blood count should be performed and absolute neutrophil count should be evaluated in patients with recurrent severe infections. In the event neutropenia is detected, they should be investigated in terms of SCN and mutation analysis should be performed. This is important both for definite diagnosis of SCN, determination of subtype and treatment planning and also for genetic counseling. DOI 10.12932/AP0618.34.1.2016 |
| Databáze: | OpenAIRE |
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