Kostmann Sendromu: Bir Vaka Sunumu

Mehmet Kılıç; Mehmet Kılıç; Zeynep Hüz; Erdal Taşkın; Saadet Akarsu; Aşkın Şen

doi:10.12956/tchd.886720

Case Report

Turk J Pediatr Dis 2022; 16(2): 160-164.

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Kostmann Syndrome: A Case Report

Authors

Mehmet Kılıç

Zeynep Hüz

Erdal Taşkın

Saadet Akarsu

Aşkın Şen

Affiliations

Turk J Pediatr Dis 2022; 16(2): 160-164. DOI: 10.12956/tchd.886720

Published: March 16, 2022

Abstract

Severe congenital neutropenia (SCN) is a primary immune deficiency disease characterized by a rare deficiency of mature neutrophils. Clinical features include recurrent and life-threatening infections and a reduced absolute neutrophil count from birth. There is also an increased risk of myelodysplastic syndrome and acute myeloblastic leukemia.
A four-year-old girl has recurrent oral aft, tonsillopharyngitis, soft tissue, and lung infections. Due to the complaints of the patient, she was hospitalized several times, once in intensive care. She needed intravenous or oral antibiotics about 15 times a year due to recurrent infections. The patient applied to our clinic with fever, fatigue, swelling, and redness in the frontal region. In her history has the patient was administered drainage and antibiotic therapy one year ago due to an abscess in the frontal region. There was a kinship between the parents. There were no individuals with similar complaints in the family. In our patient’s genetic analysis, there was a homozygous mutation in the HAX1 (HCLS1-associated protein X-1) gene, and SCN type 3 was diagnosed. The heterozygous same mutation was present in the mother and father.
We reported this case to emphasize that Kostmann Syndrome as a rare disease in children with recurrent infections and neutropenia.

Keywords: Childhood, Kostmann Syndrome, Neutropenia, Recurrent infections

References

Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: Diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011;6:26.
Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum. Mutat 2013;34: 905-14.
Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009;144:459-67.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009;360:32-43.
Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, et al. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood 2013;121: 5078–87.
Boztug K, Klein C. Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr 2011; 23: 21-6.
Carlsson G, Fasth A, Berglöf E, Lagerstedt-Robinson K, Nordenskjöld M, Palmblad J, et al. İncidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic
syndrome/leukaemia. Br J Haematol 2012;158:363-9.
Kostmann R. İnfantile genetic agranulocytosis. Acta Pediatr Scand 1956; 45:1-78.
Carlsson G, van’t Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, et al. Central nervous system involvement in severe congenital neutropenia: Neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 2008; 264:388–400.
Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008; 111:4954–7.
Karaca NE, Aksu G, Gülez N, Azarsız E, Kavaklı K, Klein C, ve ark. Clinical, Laboratory and Molecular Approach to Ten Children with Congenital Neutropenia. J Pediat Res 2016;3:7-12.
Öncel MY, Metin A, Özcan C, Çay Ü, Çelikel E, Yakut Hİ, ve ark. The case of congenitale neutropenia which is presented with staphylococcal omphalitis. Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi 2013;10: 1596-8.
Akbayram S, Akgün C, Özkan M, Değer İ, Gündoğdu M, Yeşilmen O, ve ark. Tekrarlayan Akciğer Enfeksiyonları ile Başvuran Bir Kostmann Olgusu. Van Tıp Dergisi 2010; 17 : 58-61.
Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, et al. The severe chronic neutropenia international registry: 10-year follow-up report. Support Cancer Ther 2006;3:220-31.
Cottle TE, Fier CJ, Donadieu J, Kinsey SE. Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony stimulating factor. Semin Hematol 2002; 39:134-40.

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How to cite

Kılıç M, Kılıç M, Hüz Z, Taşkın E, Akarsu S, Şen A. Kostmann Syndrome: A Case Report. Turk J Pediatr Dis [Internet]. 2022 Mar. 16 [cited 2025 May 25];16(2):160-4. Available from: https://turkjpediatrdis.org/article/view/907

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[ref1] Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: Diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011;6:26.

[ref2] Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum. Mutat 2013;34: 905-14.

[ref3] Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009;144:459-67.

[ref4] Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009;360:32-43.

[ref5] Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, et al. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood 2013;121: 5078–87.

[ref6] Boztug K, Klein C. Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr 2011; 23: 21-6.

[ref7] Carlsson G, Fasth A, Berglöf E, Lagerstedt-Robinson K, Nordenskjöld M, Palmblad J, et al. İncidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic

[ref8] syndrome/leukaemia. Br J Haematol 2012;158:363-9.

[ref9] Kostmann R. İnfantile genetic agranulocytosis. Acta Pediatr Scand 1956; 45:1-78.

[ref10] Carlsson G, van’t Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, et al. Central nervous system involvement in severe congenital neutropenia: Neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 2008; 264:388–400.

[ref11] Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008; 111:4954–7.

[ref12] Karaca NE, Aksu G, Gülez N, Azarsız E, Kavaklı K, Klein C, ve ark. Clinical, Laboratory and Molecular Approach to Ten Children with Congenital Neutropenia. J Pediat Res 2016;3:7-12.

[ref13] Öncel MY, Metin A, Özcan C, Çay Ü, Çelikel E, Yakut Hİ, ve ark. The case of congenitale neutropenia which is presented with staphylococcal omphalitis. Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi 2013;10: 1596-8.

[ref14] Akbayram S, Akgün C, Özkan M, Değer İ, Gündoğdu M, Yeşilmen O, ve ark. Tekrarlayan Akciğer Enfeksiyonları ile Başvuran Bir Kostmann Olgusu. Van Tıp Dergisi 2010; 17 : 58-61.

[ref15] Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, et al. The severe chronic neutropenia international registry: 10-year follow-up report. Support Cancer Ther 2006;3:220-31.