MCID: NTR011
MIFTS: 29

Neutrophil-Specific Granule Deficiency malady

Rare diseases, Blood diseases categories

Summaries for Neutrophil-Specific Granule Deficiency

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MalaCards based summary: Neutrophil-Specific Granule Deficiency, also known as recurrent infection due to specific granule deficiency, is related to specific granule deficiency and atherosclerosis. An important gene associated with Neutrophil-Specific Granule Deficiency is CEBPE (CCAAT/enhancer binding protein (C/EBP), epsilon), and among its related pathways are Transcriptional misregulation in cancer and Hepatitis C. The compounds lipoteichoic acid and oxygen have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, testes and myeloid, and related mouse phenotypes are immune system and hematopoietic system.

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

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Sources:
43NIH Rare Diseases, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
See all sources

Neutrophil-Specific Granule Deficiency, Aliases & Descriptions:

Name: Neutrophil-Specific Granule Deficiency 43 49
Recurrent Infection Due to Specific Granule Deficiency 43 49
Neutrophil Lactoferrin Deficiency 43 62
 
Specific Granule Deficiency 43 62
Neutrophil Specific Granule Deficiency 62
Lactoferrin-Deficient Neutrophils 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
recurrent infection due to specific granule deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 169142
ICD10 via Orphanet28 D71

Related Diseases for Neutrophil-Specific Granule Deficiency

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Diseases related to Neutrophil-Specific Granule Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1specific granule deficiency10.8
2atherosclerosis10.0IL8, SCARB1
3viral infectious disease10.0IL8, SCARB1

Symptoms for Neutrophil-Specific Granule Deficiency

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Drugs & Therapeutics for Neutrophil-Specific Granule Deficiency

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Drug clinical trials:

Search ClinicalTrials for Neutrophil-Specific Granule Deficiency

Search NIH Clinical Center for Neutrophil-Specific Granule Deficiency

Genetic Tests for Neutrophil-Specific Granule Deficiency

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Anatomical Context for Neutrophil-Specific Granule Deficiency

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MalaCards organs/tissues related to Neutrophil-Specific Granule Deficiency:

33
Neutrophil, Testes, Myeloid, Monocytes

Animal Models for Neutrophil-Specific Granule Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Neutrophil-Specific Granule Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5IL8, CEBPE, SCARB1
2MP:00053978.2IL8, CEBPE, SCARB1

Publications for Neutrophil-Specific Granule Deficiency

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Articles related to Neutrophil-Specific Granule Deficiency:

(show all 13)
idTitleAuthorsYear
1
Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test. (25081842)
2014
2
Neutrophil-specific granule deficiency. (23294125)
2013
3
Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. (16407388)
2006
4
Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency. (16204633)
2005
5
Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. (14576362)
2004
6
Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). (11753076)
2002
7
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. (11313242)
2001
8
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. (10359588)
1999
9
A marked decrease in defensin mRNA in the only case of congenital neutrophil-specific granule deficiency reported in Japan. (8018907)
1994
10
Neutrophil-specific granule deficiency includes eosinophils. (8324226)
1993
11
Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. (2536400)
1989
12
Neutrophil specific granule deficiency. (3888052)
1985
13
Human neutrophil-specific granule deficiency: a model to assess the role of neutrophil-specific granules in the evolution of the inflammatory response. (7044447)
1982

Variations for Neutrophil-Specific Granule Deficiency

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Clinvar genetic disease variations for Neutrophil-Specific Granule Deficiency:

7
id Gene Variation Type Significance SNP ID Assembly Location
1CEBPECEBPE, 5-BP DEL, NT224deletionPathogenic
2CEBPECEBPE, 1-BP INS, 1113AinsertionPathogenic

Expression for genes affiliated with Neutrophil-Specific Granule Deficiency

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Search GEO for disease gene expression data for Neutrophil-Specific Granule Deficiency.

Pathways for genes affiliated with Neutrophil-Specific Granule Deficiency

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Pathways related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3IL8, CEBPE
29.1IL8, SCARB1

Compounds for genes affiliated with Neutrophil-Specific Granule Deficiency

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Compounds related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipoteichoic acid459.1IL8, SCARB1
2oxygen45 2610.1IL8, SCARB1
3simvastatin45 51 61 30 26 1314.0IL8, SCARB1
4nitric oxide45 26 1310.8IL8, SCARB1

GO Terms for genes affiliated with Neutrophil-Specific Granule Deficiency

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Biological processes related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular response to lipopolysaccharideGO:00712229.3IL8, CEBPE

Molecular functions related to Neutrophil-Specific Granule Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428039.0CEBPE, SCARB1

Products for genes affiliated with Neutrophil-Specific Granule Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neutrophil-Specific Granule Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet