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Congenital agranulocytosis

MedGen UID:
1631650
Concept ID:
C4551555
Congenital Abnormality
HPO: HP:0005541

Definition

Congenital onset of a marked decrease in the number of granulocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital agranulocytosis

Conditions with this feature

Reticular dysgenesis
MedGen UID:
124417
Concept ID:
C0272167
Disease or Syndrome
Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009).
Neutropenia, severe congenital, 1, autosomal dominant
MedGen UID:
348506
Concept ID:
C1859966
Disease or Syndrome
ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony-stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia (AML) is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.

Professional guidelines

PubMed

Dannenmann B, Skokowa J
STAR Protoc 2022 Jun 17;3(2):101400. Epub 2022 May 14 doi: 10.1016/j.xpro.2022.101400. PMID: 35600931Free PMC Article
Touw IP
Curr Opin Hematol 2022 Jan 1;29(1):27-33. doi: 10.1097/MOH.0000000000000696. PMID: 34854832Free PMC Article
Lanini LL, Prader S, Siler U, Reichenbach J
Pediatr Allergy Immunol 2017 Mar;28(2):124-134. Epub 2016 Oct 13 doi: 10.1111/pai.12654. PMID: 27612320

Recent clinical studies

Diagnosis

Scully C, Malamos D
Dent Update 2016 Mar;43(2):194-5. doi: 10.12968/denu.2016.43.2.194. PMID: 27188141
Shekhter-Levin S, Penchansky L, Wollman MR, Sherer ME, Wald N, Gollin SM
Cancer Genet Cytogenet 1995 Oct 15;84(2):99-104. doi: 10.1016/0165-4608(95)00095-x. PMID: 8536230
Imashuku S, Tsuchida M, Sasaki M, Shimokawa T, Nakamura H, Matsuyama T, Taniguchi N, Oda M, Higuchi S, Ishimoto K
Acta Paediatr 1992 Feb;81(2):133-6. doi: 10.1111/j.1651-2227.1992.tb12188.x. PMID: 1381248
Glasser L, Duncan BR, Corrigan JJ Jr
Am J Dis Child 1991 Aug;145(8):925-8. doi: 10.1001/archpedi.1991.02160080103029. PMID: 1713405
Mizuno Y, Hara T, Nagata M, Omori F, Shimoda K, Okamura S, Niho Y, Ueda K
Pediatr Hematol Oncol 1990;7(4):377-81. doi: 10.3109/08880019009033415. PMID: 1702678

Therapy

Clarke SA, Eiser C
Health Qual Life Outcomes 2004 Nov 22;2:66. doi: 10.1186/1477-7525-2-66. PMID: 15555077Free PMC Article
Lau AS, Lehman D, Geertsma FR, Yeung MC
Pediatr Infect Dis J 1996 Jul;15(7):563-75. doi: 10.1097/00006454-199607000-00002. PMID: 8823848
Sachs L
Proc Natl Acad Sci U S A 1996 May 14;93(10):4742-9. doi: 10.1073/pnas.93.10.4742. PMID: 8643473Free PMC Article
Yee GC
Am J Hosp Pharm 1989 Nov;46(11 Suppl 2):S24-9. PMID: 2690607
Gilman PA, Jackson DP, Guild HG
Blood 1970 Nov;36(5):576-85. PMID: 4319697

Prognosis

Donadieu J, Boutard P, Tchernia G, Oster G, Gordon-Smith EC, Philippe N, Le Gall E, Nivelon JL, Dopfer P, Babin-Boilletot A
Nouv Rev Fr Hematol (1978) 1994 Dec;36(6):441-8. PMID: 7538658
Imashuku S, Tsuchida M, Sasaki M, Shimokawa T, Nakamura H, Matsuyama T, Taniguchi N, Oda M, Higuchi S, Ishimoto K
Acta Paediatr 1992 Feb;81(2):133-6. doi: 10.1111/j.1651-2227.1992.tb12188.x. PMID: 1381248

Clinical prediction guides

Defraia E, Marinelli A
J Clin Pediatr Dent 2001 Fall;26(1):99-102. doi: 10.17796/jcpd.26.1.n1vhq267271378l1. PMID: 11688822
Shekhter-Levin S, Penchansky L, Wollman MR, Sherer ME, Wald N, Gollin SM
Cancer Genet Cytogenet 1995 Oct 15;84(2):99-104. doi: 10.1016/0165-4608(95)00095-x. PMID: 8536230
Bonilla MA, Gillio AP, Ruggeiro M, Kernan NA, Brochstein JA, Abboud M, Fumagalli L, Vincent M, Gabrilove JL, Welte K, Souza LM, O'Reilly RJ
N Engl J Med 1989 Jun 15;320(24):1574-80. doi: 10.1056/NEJM198906153202402. PMID: 2471075

Recent systematic reviews

Clarke SA, Eiser C
Health Qual Life Outcomes 2004 Nov 22;2:66. doi: 10.1186/1477-7525-2-66. PMID: 15555077Free PMC Article

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