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12/2010
Background: G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenic, early onset infections and additional... 
Severe congenital neittropenia | Renal malformation | G6PC3 | Cardiac malformation | Mutation
Web Resource
Frontiers in Immunology, ISSN 1664-3224, 11/2017, Volume 8, p. 1485
G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However,... 
Systemic autoinflammatory syndromes | PID | G6PC3 | Adalimumab | Neutropenia | systemic autoinflammatory syndromes | CROHNS-DISEASE | CHRONIC GRANULOMATOUS-DISEASE | SEVERE CONGENITAL NEUTROPENIA | neutropenia | AUTOPHAGY | IMMUNOLOGY | adalimumab | INFLAMMATORY-BOWEL-DISEASE | MUTATIONS | DYSFUNCTION | BLOCKADE
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2012, Volume 160, Issue 4, pp. 679 - 683.e2
Journal Article
Glycobiology, ISSN 0959-6658, 7/2011, Volume 21, Issue 7, pp. 914 - 924
Journal Article
Current Opinion in Pediatrics, ISSN 1040-8703, 02/2011, Volume 23, Issue 1, pp. 21 - 26
Purpose of review To review recent advances in severe congenital neutropenia (SCN) syndromes. Recent findings The majority of patients with SCN bear... 
neutropenia | G6PC3 | HAX1 | congenital | CYCLIC NEUTROPENIA | ACTIN POLYMERIZATION | GFI1 | WISKOTT-ALDRICH-SYNDROME | G-CSF THERAPY | X-LINKED NEUTROPENIA | WASP | UNFOLDED PROTEIN RESPONSE | ELASTASE | PEDIATRICS | MUTATIONS | Genetic Predisposition to Disease - genetics | Neutropenia - genetics | Child | Humans | Neutropenia - congenital
Journal Article
Turk Pediatri Arsivi, ISSN 1306-0015, 2012, Volume 47, Issue 4, pp. 272 - 277
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 2018, Volume 6, p. 305
Objectives: Severe congenital neutropenia (SCN) is a primary immunodeficiency disease characterized by the early onset of recurrent infections and persistent... 
Severe congenital neutropenia | Primary immunodeficiency diseases | Severe idiopathic neutropenia | G6PC3 | ELANE | DIAGNOSIS | severe idiopathic neutropenia | primary immunodeficiency diseases | PEDIATRICS | MUTATIONS | OUTCOMES | severe congenital neutropenia | Development and progression | Genetic aspects | Children | Patient outcomes | Neutropenia | Diseases
Journal Article
JOURNAL OF CLINICAL IMMUNOLOGY, ISSN 0271-9142, 08/2014, Volume 34, Issue 6, pp. 744 - 745
Conference Proceeding