Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing

2017 ◽  
Vol 54 (2) ◽  
pp. 261-268 ◽  
Author(s):  
Rohan Ameratunga ◽  
Klaus Lehnert ◽  
See-Tarn Woon ◽  
David Gillis ◽  
Vanessa L. Bryant ◽  
...  
2021 ◽  
Vol 8 (3) ◽  
pp. 565
Author(s):  
Mohammad Zahirul Islam Khan ◽  
Kamrul Laila ◽  
Mohammed Mahbubul Islam ◽  
Mohammad Imnul Islam ◽  
Shahana Akhter Rahman

Common variable immunodeficiency disorder (CVID) is the commonest type of primary immunodeficiency disorders (PIDs) characterized by hypogammaglobulinemia, defective specific antibody production and increased susceptibility of recurrent infections. Autoimmunity, neoplasm and lymphoproliferative disorders are usually associated with CVID. In most cases, the cause is unknown, but multiple gene mutations (10%) may be associated with CVID. Here, we report an eight years old girl with CVID presented with recurrent infections, growth failure, generalized lymphadenopathy and hepatosplenomegaly. Chest examination and radiological findings of this girl were consistent with bronchiectasis. Lack of awareness among health care providers is the reason for delayed diagnosis of several years for this girl. Therefore, it is essential to raise awareness regarding PID patients among the physicians to improve the quality of life.  


2011 ◽  
Vol 73 (4) ◽  
pp. AB460-AB461
Author(s):  
Laura Marelli ◽  
Darren Arokianathan ◽  
Linda Jackson ◽  
Hansa Palmer ◽  
Christos Toumpanakis ◽  
...  

2020 ◽  
Vol 181 (9) ◽  
pp. 706-714 ◽  
Author(s):  
Mohammad Hossein Asgardoon ◽  
Gholamreza Azizi ◽  
Reza Yazdani ◽  
Mahsa Sohani ◽  
Salar Pashangzadeh ◽  
...  

2014 ◽  
Vol 5 ◽  
Author(s):  
Rohan Ameratunga ◽  
Maia Brewerton ◽  
Charlotte Slade ◽  
Anthony Jordan ◽  
David Gillis ◽  
...  

CHEST Journal ◽  
2018 ◽  
Vol 154 (4) ◽  
pp. 944A
Author(s):  
CHELSEA LEIPOLD ◽  
RIJU DASGUPTA ◽  
DAVID TAYLOR ◽  
ASOK DASGUPTA ◽  
PARESH TIMBADIA

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