Eponym

Aytekin, Caner; Germeshausen, Manuela; Tuygun, Nilden; Tanır, Gönül; Doğu, Figen; İkincioğulları, Aydan

doi:10.1007/s00431-010-1149-z

Cited by 8 publications

(3 citation statements)

References 28 publications

(42 reference statements)

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“…The classical form of SCN described by Kostmann (hence the name “Kostmann's syndrome”) is caused by autosomal recessive mutations in the HAX1 gene [2, 3]. The Hax-1 protein plays a role in the function of mitochondria and possibly accelerates apoptosis.…”

Section: Neutrophil Development and Neutropeniamentioning

confidence: 99%

Educational paper

Kuijpers

2011

Eur J Pediatr

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The neutrophilic granulocyte (neutrophil) is the most important cellular component of the innate immune system. A total absence of neutrophils or a significant decrease in their number leads to severe immunodeficiency. A mature neutrophil, released from the bone marrow, should be able to migrate from the blood towards the tissues, following a chemotactic gradient to a pathogen. In order to be neutralized, this pathogen has to be recognized, phagocytosed, and destroyed by lytic enzymes contained in the neutrophil's granules and reactive oxygen species formed by the enzyme complex NADPH oxidase. Rare genetic defects leading to the loss of each one of these biological properties of the neutrophil have been described and are associated with immunodeficiency. This review provides a summary of the normal development and biological functions of neutrophils and describes the diseases caused by defects in neutrophil number and function.

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Section: Neutrophil Development and Neutropeniamentioning

confidence: 99%

Educational paper

Kuijpers

2011

Eur J Pediatr

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“…Autosomal recessive severe congenital neutropenia (SCN) is characterized by a lack of mature neutrophils and frequent occurrences of bacterial infections in patients [1,11]. Mutations in the HCLS1-associated protein X1 (HAX1) [1,5,8,10,11,14] and G6PC3 [2] genes have been described in SCN3 and SCN4 patients, respectively.…”

Section: Introductionmentioning

confidence: 99%

“…Mutations in the HCLS1-associated protein X1 (HAX1) [1,5,8,10,11,14] and G6PC3 [2] genes have been described in SCN3 and SCN4 patients, respectively. HAX1, initially described as the hematopoietic and lymphoidrestricted intracellular protein HS1 (HCLS1)-interacting protein [15], is essential for the maintenance of inner mitochondrial membrane potential and for protection from apoptosis in myeloid cells [11].…”

Section: Introductionmentioning

confidence: 99%

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

et al. 2010

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Autosomal recessive severe congenital neutropenia (SCN) results from a maturation arrest of granulopoiesis at the level of promyelocytes and apoptosis of myeloid cells. In SCN patients, mutations have been described in the HAX1 gene. Most of the SCN patients who carry nonsense mutations that are common to both transcript variants of the HAX1 gene also exhibit neurological deficits. This study describes an SCN patient with neurological manifestations including daily episodes of atonic seizures, learning disabilities, and developmental delay. Sequencing of the HAX1 gene of this SCN patient identified a novel nonsense c.463_464insC homozygous mutation in exon 3, which is common to both transcript variants of the gene. This mutation encodes for a p.Gln155ProfsX14 change and causes premature truncation of the HAX1 protein. Neutrophils isolated from the patient exhibited spontaneous apoptosis and loss of inner mitochondrial membrane potential, which were further enhanced upon treatment with hydrogen peroxide. This study adds to the spectrum of novel HAX1 gene mutations and disease manifestations in ethnically distinct SCN patients. Our report describes the only nonsense mutation in the HAX1 gene present in SCN patients of Arab origin.

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Kostmann disease with developmental delay in three patients

et al. 2010

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Kostmann disease is a rare autosomal recessive form of severe congenital neutropenia characterized by maturation arrest at the stage of promyelocytes/myelocytes in bone marrow with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/L and severe recurrent bacterial infections from early infancy. Kostmann disease is caused by homozygous mutations in the gene encoding the mitochondrial protein HCLS1-associated X1. Here, we report three patients with Kostmann disease who, besides recurrent infections, have developmental delay.

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Eponym

Cited by 8 publications

References 28 publications

Educational paper

Educational paper

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

Kostmann disease with developmental delay in three patients

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