KEGG DISEASE: Neutrophil specific granule deficiency

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:

ICD-10:

MeSH:

OMIM:

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

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