MCID: NTR011
MIFTS: 32

Neutrophil-Specific Granule Deficiency

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Neutrophil-Specific Granule Deficiency

MalaCards integrated aliases for Neutrophil-Specific Granule Deficiency:

Name: Neutrophil-Specific Granule Deficiency 52 58
Recurrent Infection Due to Specific Granule Deficiency 52 58
Specific Granule Deficiency 52 71
Neutrophil Secondary Granule Deficiency 71
Neutrophil Specific Granule Deficiency 36
Lactoferrin-Deficient Neutrophils 52
Neutrophil Lactoferrin Deficiency 52

Characteristics:

Orphanet epidemiological data:

58
recurrent infection due to specific granule deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

KEGG 36 H02024
ICD10 via Orphanet 33 D71
Orphanet 58 ORPHA169142
UMLS 71 C0398593 C0398745

Summaries for Neutrophil-Specific Granule Deficiency

KEGG : 36 Neutrophil-specific granule deficiency (SGD) is a rare disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (CEBP) epsilon. Recently, loss-of-function mutations in SMARCD2 were identified from SGD patients. SMARCD2 is chromatin-remodeling factor, that interacts with CEBP epsilon.

MalaCards based summary : Neutrophil-Specific Granule Deficiency, also known as recurrent infection due to specific granule deficiency, is related to specific granule deficiency 1 and specific granule deficiency 2. An important gene associated with Neutrophil-Specific Granule Deficiency is CEBPE (CCAAT Enhancer Binding Protein Epsilon), and among its related pathways/superpathways are Transcriptional misregulation in cancer and C-MYB transcription factor network. Affiliated tissues include neutrophil, myeloid and monocytes, and related phenotype is mortality/aging.

Wikipedia : 74 Neutrophil-specific granule deficiency ( previously known as lactoferrin deficiency) is a rare... more...

Related Diseases for Neutrophil-Specific Granule Deficiency

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 specific granule deficiency 1 30.6 SMARCD2 CEBPE
2 specific granule deficiency 2 12.8
3 bacterial infectious disease 10.3
4 monocytic leukemia 10.0
5 diarrhea 10.0
6 impetigo 10.0
7 chediak-higashi syndrome 9.8
8 lymphoproliferative syndrome 9.8
9 cellulitis 9.8
10 severe congenital neutropenia 9.7 SMARCD2 CEBPE
11 erythroleukemia, familial 9.5 SPI1 GATA1
12 myeloproliferative neoplasm 9.2 SPI1 GATA1
13 leukemia, acute myeloid 9.0 SPI1 GATA1 CEBPE

Graphical network of the top 20 diseases related to Neutrophil-Specific Granule Deficiency:



Diseases related to Neutrophil-Specific Granule Deficiency

Symptoms & Phenotypes for Neutrophil-Specific Granule Deficiency

MGI Mouse Phenotypes related to Neutrophil-Specific Granule Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.02 CEBPE GATA1 SCARB1 SMARCD2 SPI1

Drugs & Therapeutics for Neutrophil-Specific Granule Deficiency

Search Clinical Trials , NIH Clinical Center for Neutrophil-Specific Granule Deficiency

Genetic Tests for Neutrophil-Specific Granule Deficiency

Anatomical Context for Neutrophil-Specific Granule Deficiency

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

40
Neutrophil, Myeloid, Monocytes, Brain, Testes

Publications for Neutrophil-Specific Granule Deficiency

Articles related to Neutrophil-Specific Granule Deficiency:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon. 61 6
11313242 2001
2
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. 6 61
10359588 1999
3
Neutrophil Defects and Diagnosis Disorders of Neutrophil Function: An Overview. 61
31728980 2020
4
Brain Abscess as Severe Presentation of Specific Granule Deficiency. 61
32391290 2020
5
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy. 61
31201888 2019
6
C/EBPε ΔRS derived from a neutrophil-specific granule deficiency patient interacts with HDAC1 and its dysfunction is restored by trichostatin A. 61
31256937 2019
7
Identification of a novel enhancer of CEBPE essential for granulocytic differentiation. 61
30952671 2019
8
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils. 61
29651288 2018
9
SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism. 61
28369034 2017
10
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. 61
28369036 2017
11
c-Myb acts in parallel and cooperatively with Cebp1 to regulate neutrophil maturation in zebrafish. 61
27268086 2016
12
Role of the Leucine Zipper Domain of CCAAT/ Enhancer Binding Protein-Epsilon (C/EBPε) in Neutrophil-Specific Granule Deficiency. 61
28322138 2016
13
A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency. 61
26019275 2015
14
The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study. 61
26119962 2015
15
Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test. 61
25081842 2014
16
Congenital candidiasis as a subject of research in medicine and human ecology. 61
25281815 2014
17
Disorders of neutrophil function: an overview. 61
24504971 2014
18
Human α-defensin expression is not dependent on CCAAT/enhancer binding protein-ε in a murine model. 61
24658030 2014
19
Impaired neutrophil function in 24p3 null mice contributes to enhanced susceptibility to bacterial infections. 61
23543755 2013
20
Neutrophil-specific granule deficiency. 61
23294125 2013
21
C/EBPε mediates nicotinamide-enhanced clearance of Staphylococcus aureus in mice. 61
22922257 2012
22
C/EBPepsilon directs granulocytic-vs-monocytic lineage determination and confers chemotactic function via Hlx. 61
19925846 2010
23
Stimulus-dependent impairment of the neutrophil oxidative burst response in lactoferrin-deficient mice. 61
18321995 2008
24
Derangement of transcription factor profiles during in vitro differentiation of HL60 and NB4 cells. 61
16942795 2007
25
Expression of bactericidal/permeability-increasing protein requires C/EBP epsilon. 61
17483073 2007
26
Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene. 61
17244686 2007
27
Disorders of neutrophil function: an overview. 61
18453130 2007
28
All-trans retinoic acid-induced expression of bactericidal/permeability-increasing protein (BPI) in human myeloid cells correlates to binding of C/EBPbeta and C/EBPepsilon to the BPI promoter. 61
16684888 2006
29
Haptoglobin is synthesized during granulocyte differentiation, stored in specific granules, and released by neutrophils in response to activation. 61
16543473 2006
30
Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. 61
16407388 2006
31
Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency. 61
16204633 2005
32
Highly glycosylated alpha1-acid glycoprotein is synthesized in myelocytes, stored in secondary granules, and released by activated neutrophils. 61
15941779 2005
33
Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. 61
14576362 2004
34
White blood cell defects: molecular discoveries and clinical management. 61
12165204 2002
35
Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). 61
11753076 2002
36
Deficiency of the specific granule proteins, R-binder/transcobalamin I and lactoferrin, in plasma and saliva: a new disorder. 61
11298376 2001
37
The role of C/EBP(epsilon) in the terminal stages of granulocyte differentiation. 61
11239167 2001
38
Inherited Neutrophil Disorders: Molecular Basis and New Therapies. 61
11701548 2000
39
CCAAT/enhancer binding protein epsilon is critical for effective neutrophil-mediated response to inflammatory challenge. 61
10216107 1999
40
CCAAT displacement protein (CDP/cut) recognizes a silencer element within the lactoferrin gene promoter. 61
9326246 1997
41
Heterogeneity of peroxidase positive granules in normal and pathologic human neutrophils. 61
9293701 1997
42
A marked decrease in defensin mRNA in the only case of congenital neutrophil-specific granule deficiency reported in Japan. 61
8018907 1994
43
Neutrophil-specific granule deficiency includes eosinophils. 61
8324226 1993
44
Ultrastructure of neutrophilic phagosome of autologous platelet in vivo in specific granule deficiency. 61
8342544 1993
45
Correlation of messenger RNA levels with protein defects in specific granule deficiency. 61
1327289 1992
46
Unique human neutrophil populations are defined by monoclonal antibody ED12F8C10. 61
1829650 1991
47
Glandular secretion of lactoferrin in a patient with neutrophil lactoferrin deficiency. 61
2600325 1989
48
The molecular biology of selected phagocyte defects. 61
2673450 1989
49
Laminin promotes the oxidative burst in human neutrophils via increased chemoattractant receptor expression. 61
2537868 1989
50
Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. 61
2536400 1989

Variations for Neutrophil-Specific Granule Deficiency

ClinVar genetic disease variations for Neutrophil-Specific Granule Deficiency:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEBPE NM_001805.3(CEBPE):c.205C>T (p.Leu69Phe)SNV Uncertain significance 530665 rs146580935 14:23588096-23588096 14:23118887-23118887
2 CEBPE NC_000014.9:g.23117555G>ASNV Uncertain significance 855048 14:23586764-23586764 14:23117555-23117555
3 CEBPE NC_000014.9:g.23117676G>ASNV Uncertain significance 842523 14:23586885-23586885 14:23117676-23117676
4 CEBPE NC_000014.9:g.23117768G>ASNV Uncertain significance 850508 14:23586977-23586977 14:23117768-23117768
5 CEBPE NC_000014.9:g.23117797G>ASNV Uncertain significance 834881 14:23587006-23587006 14:23117797-23117797
6 CEBPE NC_000014.9:g.23118736G>TSNV Uncertain significance 841081 14:23587945-23587945 14:23118736-23118736
7 CEBPE NC_000014.9:g.23118806C>TSNV Uncertain significance 863274 14:23588015-23588015 14:23118806-23118806
8 CEBPE NC_000014.9:g.23118875C>TSNV Uncertain significance 836534 14:23588084-23588084 14:23118875-23118875
9 CEBPE NC_000014.9:g.23118992A>TSNV Uncertain significance 847959 14:23588201-23588201 14:23118992-23118992
10 CEBPE NM_001805.3(CEBPE):c.828C>T (p.Gly276=)SNV Likely benign 787006 14:23586714-23586714 14:23117505-23117505
11 CEBPE NM_001805.3(CEBPE):c.842G>A (p.Ser281Asn)SNV Likely benign 714668 14:23586700-23586700 14:23117491-23117491
12 CEBPE NM_001805.3(CEBPE):c.177C>G (p.Ala59=)SNV Likely benign 732426 14:23588124-23588124 14:23118915-23118915
13 CEBPE NM_001805.3(CEBPE):c.357G>A (p.Ala119=)SNV Likely benign 762741 14:23587944-23587944 14:23118735-23118735
14 CEBPE NM_001805.3(CEBPE):c.789C>G (p.Leu263=)SNV Likely benign 795218 14:23586753-23586753 14:23117544-23117544
15 CEBPE NM_001805.3(CEBPE):c.558G>A (p.Ala186=)SNV Benign 727768 14:23586984-23586984 14:23117775-23117775
16 CEBPE NM_001805.3(CEBPE):c.463C>A (p.Leu155Met)SNV Benign 530670 rs141903485 14:23587838-23587838 14:23118629-23118629
17 CEBPE NM_001805.3(CEBPE):c.747C>T (p.Arg249=)SNV Benign 461468 rs55722931 14:23586795-23586795 14:23117586-23117586
18 CEBPE NM_001805.3(CEBPE):c.234C>T (p.Pro78=)SNV Benign 530669 rs114913626 14:23588067-23588067 14:23118858-23118858

Expression for Neutrophil-Specific Granule Deficiency

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

Pathways for Neutrophil-Specific Granule Deficiency

Pathways related to Neutrophil-Specific Granule Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 SPI1 CEBPE
2 10.85 SPI1 GATA1
3 10.3 SPI1 GATA1

GO Terms for Neutrophil-Specific Granule Deficiency

Cellular components related to Neutrophil-Specific Granule Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.96 SPI1 GATA1
2 nuclear chromatin GO:0000790 8.92 SPI1 SMARCD2 GATA1 CEBPE

Biological processes related to Neutrophil-Specific Granule Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 9.26 SPI1 GATA1
2 myeloid cell differentiation GO:0030099 9.16 GATA1 CEBPE
3 macrophage differentiation GO:0030225 8.96 SPI1 CEBPE
4 granulocyte differentiation GO:0030851 8.62 SPI1 CEBPE

Molecular functions related to Neutrophil-Specific Granule Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.5 SPI1 GATA1 CEBPE
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 SPI1 GATA1 CEBPE
3 RNA polymerase II transcription factor binding GO:0001085 9.16 SPI1 GATA1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.13 SPI1 GATA1 CEBPE
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.92 SPI1 SMARCD2 GATA1 CEBPE

Sources for Neutrophil-Specific Granule Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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