KEGG   DISEASE: Neutrophil specific granule deficiency
Entry
H02024                      Disease                                
Name
Neutrophil specific granule deficiency
  Supergrp
Other phagocyte defects [DS:H00101]
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Description
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.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H02024  Neutrophil specific granule deficiency
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H02024  Neutrophil specific granule deficiency
Gene
(SGD1) CEBPE [HSA:1053] [KO:K10051]
(SGD2) SMARCD2 [HSA:6603] [KO:K11650]
Other DBs
ICD-11: 4A00.0Y
ICD-10: D71
MeSH: C562873
OMIM: 245480 617475
Reference
PMID:10359588 (CEBPE)
  Authors
Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI
  Title
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.
  Journal
J Exp Med 189:1847-52 (1999)
DOI:10.1084/jem.189.11.1847
Reference
PMID:28369036 (SMARCD2)
  Authors
Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchalka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schaffer AA, Klein C
  Title
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
  Journal
Nat Genet 49:742-752 (2017)
DOI:10.1038/ng.3833
LinkDB

» Japanese version

DBGET integrated database retrieval system