Literature DB >> 25851723

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.

S Baris1, E Karakoc-Aydiner, A Ozen, K Delil, A Kiykim, I Ogulur, I Baris, I B Barlan.   

Abstract

Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. These findings imply the role of JAGN1 in neutrophil survival. Here, we report two siblings with a homozygous mutation in JAGN1 gene, exhibiting multisystemic involvement.

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25851723     DOI： 10.1007/s10875-015-0156-2

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  9 in total

1.  Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.

Authors:  K Devriendt; A S Kim; G Mathijs; S G Frints; M Schwartz; J J Van Den Oord; G E Verhoef; M A Boogaerts; J P Fryns; D You; M K Rosen; P Vandenberghe
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

Review 2.  Genetic etiologies of severe congenital neutropenia.

Authors:  Kaan Boztug; Christoph Klein
Journal:  Curr Opin Pediatr       Date:  2011-02       Impact factor: 2.856

3.  HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

Authors:  Christoph Klein; Magda Grudzien; Giridharan Appaswamy; Manuela Germeshausen; Inga Sandrock; Alejandro A Schäffer; Chozhavendan Rathinam; Kaan Boztug; Beate Schwinzer; Nima Rezaei; Georg Bohn; Malin Melin; Göran Carlsson; Bengt Fadeel; Niklas Dahl; Jan Palmblad; Jan-Inge Henter; Cornelia Zeidler; Bodo Grimbacher; Karl Welte
Journal:  Nat Genet       Date:  2006-12-24       Impact factor: 38.330

4.  Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

Authors:  Mohammed A Sadat; Susan Moir; Tae-Wook Chun; Paolo Lusso; Gerardo Kaplan; Lynne Wolfe; Matthew J Memoli; Miao He; Hugo Vega; Leo J Y Kim; Yan Huang; Nadia Hussein; Elma Nievas; Raquel Mitchell; Mary Garofalo; Aaron Louie; Derek C Ireland; Claire Grunes; Raffaello Cimbro; Vyomesh Patel; Genevieve Holzapfel; Daniel Salahuddin; Tyler Bristol; David Adams; Beatriz E Marciano; Madhuri Hegde; Yuxing Li; Katherine R Calvo; Jennifer Stoddard; J Shawn Justement; Jerome Jacques; Debra A Long Priel; Danielle Murray; Peter Sun; Douglas B Kuhns; Cornelius F Boerkoel; John A Chiorini; Giovanni Di Pasquale; Daniela Verthelyi; Sergio D Rosenzweig
Journal:  N Engl J Med       Date:  2014-04-09       Impact factor: 91.245

5.  Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

Authors:  David S Grenda; Mark Murakami; Jhuma Ghatak; Jun Xia; Laurence A Boxer; David Dale; Mary C Dinauer; Daniel C Link
Journal:  Blood       Date:  2007-08-30       Impact factor: 22.113

6.  Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.

Authors:  Richard E Person; Feng-Qian Li; Zhijun Duan; Kathleen F Benson; Jeremy Wechsler; Helen A Papadaki; George Eliopoulos; Christina Kaufman; Salvatore J Bertolone; Betty Nakamoto; Thalia Papayannopoulou; H Leighton Grimes; Marshall Horwitz
Journal:  Nat Genet       Date:  2003-07       Impact factor: 38.330

7.  A syndrome with congenital neutropenia and mutations in G6PC3.

Authors:  Kaan Boztug; Giridharan Appaswamy; Angel Ashikov; Alejandro A Schäffer; Ulrich Salzer; Jana Diestelhorst; Manuela Germeshausen; Gudrun Brandes; Jacqueline Lee-Gossler; Fatih Noyan; Anna-Katherina Gatzke; Milen Minkov; Johann Greil; Christian Kratz; Theoni Petropoulou; Isabelle Pellier; Christine Bellanné-Chantelot; Nima Rezaei; Kirsten Mönkemöller; Noha Irani-Hakimeh; Hans Bakker; Rita Gerardy-Schahn; Cornelia Zeidler; Bodo Grimbacher; Karl Welte; Christoph Klein
Journal:  N Engl J Med       Date:  2009-01-01       Impact factor: 91.245

Review 8.  Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes.

Authors:  Fabian Hauck; Christoph Klein
Journal:  Curr Opin Allergy Clin Immunol       Date:  2013-12

9.  JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Authors:  Kaan Boztug; Päivi M Järvinen; Elisabeth Salzer; Tomas Racek; Sebastian Mönch; Wojciech Garncarz; E Michael Gertz; Alejandro A Schäffer; Aristotelis Antonopoulos; Stuart M Haslam; Lena Schieck; Jacek Puchałka; Jana Diestelhorst; Giridharan Appaswamy; Brigitte Lescoeur; Roberto Giambruno; Johannes W Bigenzahn; Ulrich Elling; Dietmar Pfeifer; Cecilia Domínguez Conde; Michael H Albert; Karl Welte; Gudrun Brandes; Roya Sherkat; Jutte van der Werff Ten Bosch; Nima Rezaei; Amos Etzioni; Christine Bellanné-Chantelot; Giulio Superti-Furga; Josef M Penninger; Keiryn L Bennett; Julia von Blume; Anne Dell; Jean Donadieu; Christoph Klein
Journal:  Nat Genet       Date:  2014-08-17       Impact factor: 38.330
  9 in total
  6 in total

Review 1.  New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.

Authors:  Seth J Corey; Usua Oyarbide
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

Review 2.  The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT.

Authors:  Shahrzad Bakhtiar; Bella Shadur; Polina Stepensky
Journal:  Front Pediatr       Date:  2019-10-24       Impact factor: 3.418

3.  Management of Inborn Errors of Immunity in the Genomic Era.

Authors:  Doğa Damla Demir; Kosar Asnaashari; Nima Rezaei; Ahmet Özen
Journal:  Turk Arch Pediatr       Date:  2022-03

Review 4.  Lessons learned from the study of human inborn errors of innate immunity.

Authors:  Giorgia Bucciol; Leen Moens; Barbara Bosch; Xavier Bossuyt; Jean-Laurent Casanova; Anne Puel; Isabelle Meyts
Journal:  J Allergy Clin Immunol       Date:  2018-08-01       Impact factor: 10.793

5.  JAGN1, tetraspanins, and Erv proteins: is common topology indicative of common function in cargo sorting?

Authors:  Peyton E VanWinkle; Felicia Parish; Yvonne J K Edwards; Elizabeth Sztul
Journal:  Am J Physiol Cell Physiol       Date:  2020-08-12       Impact factor: 4.249

6.  A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans.

Authors:  Astrid Hagelkruys; Gerald Wirnsberger; Johannes Stadlmann; Miriam Wöhner; Marion Horrer; Bojan Vilagos; Gustav Jonsson; Melanie Kogler; Luigi Tortola; Maria Novatchkova; Peter Bönelt; David Hoffmann; Rubina Koglgruber; Ulrike Steffen; Georg Schett; Meinrad Busslinger; Andreas Bergthaler; Christoph Klein; Josef M Penninger
Journal:  J Exp Med       Date:  2021-01-04       Impact factor: 14.307
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.