About: Severe congenital neutropenia

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Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections. Kostmann disease (SCN3), the initial subtype recognized, was clinically described in 1956. This type has an autosomal recessive inheritance pattern, whereas the most common subtype, SCN1, shows autosomal dominant inheritance.

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rdf:type	Thing Disease disease
rdfs:label	نقص العدلات الخلقي الشديد (ar) Kostmann-Syndrom (de) Neutropenia congénita severa (es) Sindrome di Kostmann (it) Choroba Kostmanna (pl) Severe congenital neutropenia (en) Kostmanns sjukdom (sv)
rdfs:comment	La sindrome di Kostmann è una rara patologia dell'emopoiesi che causa una neutropenia congenita, solitamente non accompagnata da altri sintomi. La neutropenia si manifesta nell'infanzia con infezioni batteriche potenzialmente letali. La maggior parte dei casi risponde al trattamento con fattori di crescita dei granulociti (filgrastim), che incrementa la conta dei neutrofili e diminuisce la frequenza e la gravità delle infezioni. (it) Choroba Kostmanna (zespół Kostmanna, ang. Kostmann syndrome, Kostmann disease) – rzadki zespół pierwotnego niedoboru odporności, spowodowany mutacjami w genie . Głównym objawem choroby jest całkowita liczba neutrofilów mniejsza niż 500/mm³. Dziedziczenie jest autosomalne recesywne. Jednostkę chorobową opisał (1909-1982) w 1956 roku. (pl) Kostmanns sjukdom är en sjukdom som beror på låga halter av neutrofiler (vita blodkroppar), vilket gör att den som drabbas kan bli väldigt sjuk av en vanlig infektion därför att immunförsvaret inte fungerar som det ska. Det finns även risk för leukemi. Sjukdomen beskrevs av den svenske läkaren på 1940-talet. (sv) نقص العدلات الخلقي الشديد «إس سي إن» (بالإنجليزية: Severe congenital neutropenia)‏، المعروف أيضًا بمتلازمة أو مرض كوستمان، هو مجموعة من الاضطرابات النادرة تؤثر في التكوّن النخاعي مسببةً شكلًا خلقيًا من نقص العدلات دون أن تترافق بتشوهات جسدية أخرى عادةً. يتظاهر إس سي إن في مرحلة الطفولة بعدوى جرثومية مهددة للحياة. وُصفت أول مجموعة فرعية من هذا الاضطراب سريريًا عام 1965، وأُطلق عليها داء كوستمان «إس سي إن 3». ينتقل المرض في هذه المجموعة بوراثة جسمية متنحية، بينما تورث المجموعة الفرعية الأشيع «إس سي إن 1» وفق نمط وراثي جسمي مسيطر. (ar) Das Kostmann-Syndrom (synonym: Morbus Kostmann, schwere kongenitale Neutropenie) ist eine seltene Erbkrankheit, bei der ab Geburt im Blut zu wenig oder keine neutrophile Granulozyten (die zu den weißen Blutkörperchen gehören) zu finden sind. Aufgrund der Neutropenie treten häufig schwere bakterielle Infektionen und Abszesse auf. Häufig kommt es ab dem zweiten Lebensjahr zu einer erosiven Gingivitis und Periodontitis der Mundhöhle. (de) El síndrome de Kostmann, o neutropenia severa congénita, autosomal recesiva tipo 3 (SCN3); y enfermedad de Kostmann, es una neutropenia (disminución de los leucocitos neutrófilos) congénita. Este trastorno se produce de forma esporádica o como un trastorno autosómico recesivo, este tipo de neutropenia congénita causa neutropenia intensa pero con preservación del linaje de células eritroides o megacariocíticas que son las que producen glóbulos rojos y plaquetas. (es) Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections. Kostmann disease (SCN3), the initial subtype recognized, was clinically described in 1956. This type has an autosomal recessive inheritance pattern, whereas the most common subtype, SCN1, shows autosomal dominant inheritance. (en)
foaf:name	Severe congenital neutropenia (en)
name	Severe congenital neutropenia (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Enzyme defects Congenital defects of phagocyte number, function, or both Rare diseases Syndromes affecting blood Autosomal dominant disorders
Wikipage page ID	2556493 (xsd:integer)
Wikipage revision ID	1055403998 (xsd:integer)
Link from a Wikipage to another Wikipage	Pulmonary hypertension Elastase Mutation Barth syndrome Cyclic neutropenia Umbrella term VPS45 Promyelocyte Mastoiditis Genetic testing Myelopoiesis Gene Myelodysplastic syndrome Myelofibrosis Orphanet Autosomal recessive disorders Apoptosis Leukemia Enzyme defects Staphylococcus Stem cell Platelet Syndrome Synonym Autosomal dominant Autosomal recessive G6PC3 GATA2 GATA2 deficiency GFI1 Acute myeloid leukemia Alpha granule Filgrastim Congenital defects of phagocyte number, function, or both Chédiak–Higashi syndrome Glycogen storage disease Granulocyte Granulocyte colony-stimulating factor Haploinsufficiency Transcription factor Protein Rare diseases Griscelli syndrome Hematopoietic stem cell transplantation Hermansky–Pudlak syndrome Acute myelogenous leukemia Hyperimmunoglobulin E syndrome Syndromes affecting blood Absolute neutrophil count Autosomal dominant disorders Charcot–Marie–Tooth disease Albinism Blood Blood test Cohen syndrome Dominance (genetics) Autosome Bone marrow Phenotype Fibroblast Human papillomavirus infection Animal embryonic development HAX1 Neuropathy Chronic (medicine) WHIM syndrome Neutropenia Neutrophil Congenital Lymphatic system Lysosome

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