Kostmann disease and other forms of severe congenital neutropenia

Fadeel, Bengt; Garwicz, Daniel; Carlsson, Göran; Sandstedt, Bengt; Nordenskjöld, Magnus

doi:10.1111/apa.16005

Cited by 10 publications

(13 citation statements)

References 60 publications

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“…Kostmann disease is an autosomal recessive severe congenital neutropenia caused by mutations in HCLS1-associated protein X-1 (HAX1) with aberrant cell death of the myeloid progenitor cells ( 97 ). Patients with Kostmann syndrome suffer from life-threatening bacterial infections such as omphalitis, skin infections, otitis, tonsillitis, abscesses, and sepsis ( 98 ).…”

Section: Interplay Between the Gut Microbiome And Ieimentioning

confidence: 99%

Inborn errors of immunity and related microbiome

Hazime

Eddehbi²,

Mojadili³

et al. 2022

Front. Immunol.

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Inborn errors of immunity (IEI) are characterized by diverse clinical manifestations that are dominated by atypical, recurrent, chronic, or severe infectious or non-infectious features, including autoimmunity, lymphoproliferative disease, granulomas, and/or malignancy, which contribute substantially to morbidity and mortality. Some data suggest a correlation between clinical manifestations of IEI and altered gut microbiota. Many IEI display microbial dysbiosis resulting from the proliferation of pro-inflammatory bacteria or a decrease in anti-inflammatory bacteria with variations in the composition and function of numerous microbiota. Dysbiosis is considered more established, mainly within common variable immunodeficiency, selective immunoglobulin A deficiency, severe combined immunodeficiency diseases, Wiskott–Aldrich syndrome, Hyper-IgE syndrome, autoimmune polyendocrinopathy–candidiasis–ectodermal-dystrophy (APECED), immune dysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome, IL-10 receptor deficiency, chronic granulomatous disease, and Kostmann disease. For certain IEIs, the specific predominance of gastrointestinal, respiratory, and cutaneous involvement, which is frequently associated with dysbiosis, justifies the interest for microbiome identification. With the better understanding of the relationship between gut microbiota, host immunity, and infectious diseases, the integration of microbiota modulation as a therapeutic approach or a preventive measure of infection becomes increasingly relevant. Thus, a promising strategy is to develop optimized prebiotics, probiotics, postbiotics, and fecal microbial transplantation to rebalance the intestinal microbiota and thereby attenuate the disease activity of many IEIs.

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Section: Interplay Between the Gut Microbiome And Ieimentioning

confidence: 99%

Inborn errors of immunity and related microbiome

Hazime

Eddehbi²,

Mojadili³

et al. 2022

Front. Immunol.

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“…Jan‐Inge's groundbreaking research has served to shed light on the pathophysiology and treatment of several diseases in children, not least the histiocytosis diseases, familial haemophagocytic lymphohistiocytosis (FHL) and Langerhans cell histiocytosis (LCH). He has also contributed in a fundamental way to our understanding of severe congenital neutropenia (SCN), with particular reference to the autosomal recessive variety described in northern Sweden by another pioneering paediatrician‐scientist 1 …”

Section: Figurementioning

confidence: 99%

“…The present collection of articles in this special issue entitled Paediatric Haematology and Oncology in Honor of Professor Jan‐Inge Henter provides a panoramic view of clinical and pre‐clinical research on familial haemophagocytic lymphohistiocytosis (FHL), 3,5 virus‐associated haemophagocytic lymphohistiocytosis (HLH), 4 Langerhans cell histiocytosis (LCH) 6,7 and severe congenital neutropenia (SCN), 1 as well as a primer on hyperinflammation 8 . Additionally, the special issue contains a perspective on rare diseases 9 and paediatric palliative care 10 …”

Section: Figurementioning

confidence: 99%

“…He has also contributed in a fundamental way to our understanding of severe congenital neutropenia (SCN), with particular reference to the autosomal recessive variety described in northern Sweden by another pioneering paediatrician-scientist. 1 The latter work was conducted in collaboration with Professor Jan Palmblad at the Karolinska University Hospital. Indeed, a pathognomonic sign of Jan-Inge's work is collaboration (across disciplines and continents, as well as between basic and clinical science).…”

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confidence: 99%

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Tribute to Jan‐Inge Henter, the Paediatrician‐Scientist

Fadeel

2021

Acta Paediatrica

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“…ŧźƃƑźƋƌƟƒƂƆƂ ƉƊƂƑƂƇźƆƂ żƊƈžƀſƇƂƏ ƇſƃƌƊƈƉſƇƟƃ Ɲ ŽſƇſƌƂƑƇƟ ƆƍƌźƐƟƠ ż ELANE (žſƎƟƐƂƌ ſƅźƋƌźƁƂ), HAX1 (HAX1 žſƎƟƐƂƌ źŻƈ ƏżƈƊƈŻź ŤƈƋƌƆźƇź), GFI1 (GFI 1 žſƎƟƐƂƌy), TAZ (ƋƂƇžƊƈƆ śźƊƌź), VPS13B (ƋƂƇžƊƈƆ ŤƈſƇź) [4,16,18]. ŞſƄƟƅƖƄź ŽſƇƟż (SBDS, DNAJC21, EFL1) żƟžƟŽƊźƘƌƖ ƊƈƅƖ ƍ ƊƈƁżƂƌƄƍ ƋƂƇžƊƈƆƍ ŲżźƏƆźƇź-ŞźƃƆƈƇžź [34].…”

mentioning

confidence: 99%

Modern approaches to the treatment of congenital neutropenia

Boyarchuk¹

2022

MPU

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Neutropenia is common in the practice of both primary care physicians and physicians of sub-speciality. Congenital neutropenia are rare diseases; they can be both isolated independent diseases and accompany a number of other inborn errors of immunity. The clinical course of neutropenia can range from asymptomatic in patients with mild neutropenia to life-threatening infections in cases of severe neutropenia. Treatment of congenital neutropenia remains discutable to this day. The most common and accessible method of treatment of severe congenital neutropenia is granulocyte colony-stimulating factor, although it does not cure the disease and does not prevent the development of malignant transformation. On the other hand, the use of granulocyte colony-stimulating factor in the correct doses can improve the clinical course of the disease, the quality of life of patients, avoid severe septic complications. Hematopoietic stem cell transplant is an effective treatment for severe congenital neutropenia that does not respond to granulocyte colony-stimulating factor therapy. Modern methods of genetic therapy open new perspectives in the treatment of patients with severe congenital neutropenia. No conflict of interests was declared by the author. Key words: congenital neutropenia, treatment, Granulocyte colony-stimulating factor (G-CSF).

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Kostmann disease and other forms of severe congenital neutropenia

Cited by 10 publications

References 60 publications

Inborn errors of immunity and related microbiome

Inborn errors of immunity and related microbiome

Tribute to Jan‐Inge Henter, the Paediatrician‐Scientist

Modern approaches to the treatment of congenital neutropenia

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