Literature DB >> 18424332

Congenital neutropenia syndromes.

Kaan Boztug1, Karl Welte, Cornelia Zeidler, Christoph Klein.   

Abstract

Congenital neutropenia syndromes comprise a heterogeneous group of inherited disorders. Hereditary conditions associated with low neutrophil counts are persistent and need to be differentiated from neutropenia secondary to autoimmune processes or other pathologic conditions, such as myelodysplasia or leukemia. Clinically, congenital neutropenia is characterized by recurrent bacterial infections. Recently, several novel genetic defects were described in patients with congenital neutropenia, shedding light on the pathophysiology of these rare diseases.

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Mesh：

Year:  2008        PMID： 18424332     DOI： 10.1016/j.iac.2008.01.007

Source DB:  PubMed          Journal:  Immunol Allergy Clin North Am        ISSN： 0889-8561            Impact factor:   3.479


  9 in total

1.  Kostmann disease with developmental delay in three patients.

Authors:  Caner Aytekin; Manuela Germeshausen; Nilden Tuygun; Gonul Tanir; Figen Dogu; Aydan Ikinciogullari
Journal:  Eur J Pediatr       Date:  2010-02-23       Impact factor: 3.183

Review 2.  Genetic insights into congenital neutropenia.

Authors:  Christoph Klein; Karl Welte
Journal:  Clin Rev Allergy Immunol       Date:  2010-02       Impact factor: 8.667

3.  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 4.  Laboratory evaluation of primary immunodeficiencies.

Authors:  João B Oliveira; Thomas A Fleisher
Journal:  J Allergy Clin Immunol       Date:  2009-12-29       Impact factor: 10.793

Review 5.  Human genetics of infectious diseases: between proof of principle and paradigm.

Authors:  Alexandre Alcaïs; Laurent Abel; Jean-Laurent Casanova
Journal:  J Clin Invest       Date:  2009-09       Impact factor: 14.808

Review 6.  Eponym. Kostmann disease.

Authors:  Caner Aytekin; Manuela Germeshausen; Nilden Tuygun; Gonul Tanir; Figen Dogu; Aydan Ikinciogullari
Journal:  Eur J Pediatr       Date:  2010-02-18       Impact factor: 3.183

7.  Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia.

Authors:  Aziz Eghbali; Peyman Eshghi; Fatemeh Malek; Nima Rezaei
Journal:  Iran J Pediatr       Date:  2010-06       Impact factor: 0.364

8.  Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.

Authors:  Andrew R Cullinane; Thierry Vilboux; Kevin O'Brien; James A Curry; Dawn M Maynard; Hannah Carlson-Donohoe; Carla Ciccone; Thomas C Markello; Meral Gunay-Aygun; Marjan Huizing; William A Gahl
Journal:  J Invest Dermatol       Date:  2011-06-16       Impact factor: 8.551

9.  A Rare Case of Kostmann Syndrome Presenting Difficult Airway Challenges and Patient Preparedness for Anesthesiologists.

Authors:  Vamsi Krishna Uppalapati; Ashok Chattoraj; Deb Sanjay Nag; Himanshu Kumar; Sharad Kumar
Journal:  Cureus       Date:  2022-07-18
  9 in total

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