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Eosinophil peroxidase deficiency(EPXD)

MedGen UID:
342386
Concept ID:
C1850000
Disease or Syndrome
Synonyms: EOSINOPHIL PEROXIDASE DEFICIENCY, PARTIAL; EPXD; Peroxidase and phospholipid deficiency in eosinophils; PRESENTEY ANOMALY
SNOMED CT: Eosinophil peroxidase deficiency (711160007); Presentey anomaly (711160007); Peroxidase and phospholipid deficiency in eosinophils (711160007)
 
Gene (location): EPX (17q22)
 
Monarch Initiative: MONDO:0043364
OMIM®: 261500

Definition

Eosinophil peroxidase deficiency is a rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix (summary by Romano et al., 1994). Nakagawa et al. (2001) noted that there are no clinical symptoms and the diagnosis is made solely by cytochemical analysis. [from OMIM]

Additional description

From MedlinePlus Genetics
Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or inflammation. The cells then release proteins and other compounds that have a toxic effect on severely damaged cells or invading organisms. One of these proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, eosinophils have little or no eosinophil peroxidase. A lack of this protein does not seem to affect the eosinophils' ability to carry out an immune response.

Because eosinophil peroxidase deficiency does not cause any health problems, this condition is often diagnosed when blood tests are done for other reasons or when a family member has been diagnosed with the condition.  https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency

Clinical features

From HPO
Eosinophil nuclear hypersegmentation
MedGen UID:
1814395
Concept ID:
C5676831
Finding
An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.

Professional guidelines

PubMed

Kutter D, Janecki J, Verstraeten L
Redox Rep 2000;5(4):225-8. doi: 10.1179/135100000101535663. PMID: 10994877
Wildenburg G, Darge K, Knab J, Tischendorf FW, Bonow I, Büttner DW
Trop Med Parasitol 1994 Jun;45(2):87-96. PMID: 7939167

Recent clinical studies

Etiology

Romano M, Baralle FE, Patriarca P
Eur J Biochem 2000 Jun;267(12):3704-11. doi: 10.1046/j.1432-1327.2000.01403.x. PMID: 10848988

Diagnosis

Romano M, Baralle FE, Patriarca P
Eur J Biochem 2000 Jun;267(12):3704-11. doi: 10.1046/j.1432-1327.2000.01403.x. PMID: 10848988
Menegazzi R, Zabucchi G, Zuccato P, Cramer R, Piccinini C, Patriarca P
J Immunol Methods 1991 Mar 1;137(1):55-63. doi: 10.1016/0022-1759(91)90393-t. PMID: 1849156

Clinical prediction guides

Percopo CM, Krumholz JO, Fischer ER, Kraemer LS, Ma M, Laky K, Rosenberg HF
J Leukoc Biol 2019 Jan;105(1):151-161. Epub 2018 Oct 4 doi: 10.1002/JLB.3AB0318-090RR. PMID: 30285291Free PMC Article

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