Severe congenital neutropenia
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Severe congenital neutropenia is a condition that increases the risk of repeated infections in affected individuals. People with this condition have an abnormally low level (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The shortage of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to frequent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and likely to fracture. In people with severe congenital neutropenia, bone disorders can begin at any time from infancy through adulthood.
Beskrivning
Severe congenital neutropenia is a condition that increases the risk of repeated infections in affected individuals. People with this condition have an abnormally low level (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The shortage of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to frequent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and likely to fracture. In people with severe congenital neutropenia, bone disorders can begin at any time from infancy through adulthood.
Approximately 20 percent of people with severe congenital neutropenia develop certain cancerous conditions of the blood, particularly myelodysplastic syndrome or leukemia during adolescence.
Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant; X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
Congenital agranulocytosis
Congenital neutropenia
Infantile genetic agranulocytosis
Kostmann disease
Kostmann's agranulocytosis
Kostmann's syndrome
Severe infantile genetic neutropenia
Related patient information and medicines
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Fullständig blodstatus och blodutstryk
Different conditions can cause an abnormality in a blood count. Therefore, if an abnormality is found, you often need further tests to find the cause. These tests include a full blo... Too many red cells - this is called polycythaemia and can be due to various causes. Too few white cells - this is called leukopenia. Depending on which type of.
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Pneumokockvaccination
Pneumokocker kan cause diseases such as pneumonia, meningitis and blood infections. Children aged under 2 years should receive the vaccine. You should consider pneumococcal immunisation if you are aged over 65 years or have certain diseases of the lung, heart, kidney, liver and nervous system. Pneumonia vaccine side-effects are mild, and many.
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Nefrotiskt syndrom
The cause is unknown in most cases. However, a reaction of the immune system to something, or to various different things, is thought to be the cause. FSGS accounts for up to 1 in 10 cases of nephrotic syndrome in children but a higher percentage av cases in adults. Congenital nephrotic syndrome Detta är a rare cause of nephrotic syndrome which.
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Foods which tend to have a higher amount of iodine include dairy products, seafood, meat, some breads and eggs. How common is iodine deficiency. Underactive thyroid gland due to iodine deficiency from birth (congenital hypothyroidism) is the most common preventable cause of severe learning disability in the world. There has been a worldwide use of.
Vidare läsning och referenser
- Severe congenital neutropenia; MedlinePlus, National Library of Medicine.
- Berliner N. Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis. Blood. 2008 Jun 15;111(12):5427-32. doi: 10.1182/blood-2007-10-077396.
- Dale DC, Makaryan V. ELANE-Related Neutropenia. 2002 Jun 17 [updated 2018 Aug 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1533/
- Fioredda F, Iacobelli S, van Biezen A, Gaspar B, Ancliff P, Donadieu J, Aljurf M, Peters C, Calvillo M, Matthes-Martin S, Morreale G, van 't Veer-Tazelaar N, de Wreede L, Al Seraihy A, Yesilipek A, Fischer A, Bierings M, Ozturk G, Smith O, Veys P, Ljungman P, Peffault de Latour R, Sanchez de Toledo Codina J, Or R, Ganser A, Afanasyev B, Wynn R, Kalwak K, Marsh J, Dufour C; Severe Aplastic Anemia the Inborn Error, and the Pediatric Disease Working Parties of the European Society for Blood and Bone Marrow Transplantation (EBMT) and Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE). Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. Blood. 2015 Oct 15;126(16):1885-92; quiz 1970. doi: 10.1182/blood-2015-02-628859. Epub 2015 Jul 16.
- Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015 Jan;22(1):3-11. doi: 10.1097/MOH.0000000000000105.
- Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, Boxer LA, Dale DC. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008 Jan;140(2):210-3. doi: 10.1111/j.1365-2141.2007.06897.x. Epub 2007 Nov 20.
- Rosenthal EA, Makaryan V, Burt AA, Crosslin DR, Kim DS, Smith JD, Nickerson DA, Reiner AP, Rich SS, Jackson RD, Ganesh SK, Polfus LM, Qi L, Dale DC; University of Washington, Center for Mendelian Genomics; Jarvik GP. Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genet Epidemiol. 2016 Sep;40(6):470-4. doi: 10.1002/gepi.21976. Epub 2016 May 27.
- Schaffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):481-94. doi: 10.1097/ACI.0b013e3282f1d690.
- Shu Z, Li XH, Bai XM, Zhang ZY, Jiang LP, Tang XM, Zhao XD. Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations. Pediatr Infect Dis J. 2015 Feb;34(2):203-7. doi: 10.1097/INF.0000000000000522.
- Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Rev Dis Primers. 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32.
- Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009 Nov;147(4):535-42. doi: 10.1111/j.1365-2141.2009.07888.x. Epub 2009 Sep 22.
- 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 Feb;144(4):459-67. doi: 10.1111/j.1365-2141.2008.07425.x. Epub 2008 Dec 10.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
10 nov 2023 | Senaste versionen
1 Apr 2010 | Ursprungligen publicerad
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