primary immunodeficiency – Asian Pacific Journal of Allergy and Immunology

May 20, 2024

Unraveling the immunogenetics of STAT proteins: Clinical perspectives on gain-of-function and loss-of-function variants

Signal Transducer and Activator of Transcription (STAT) proteins play pivotal roles in immune regulation. The dysregulation of these proteins, attributed to both gain-of-function (GOF) and loss-of-function (LOF) variants, has emerged as a substantial and intricate area of research.

gain-of-function variants, immune dysregulation, loss-of-function variants, primary immunodeficiency, STAT Proteins

December 2, 2020

Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency, caused by non-tuberculous mycobacteria or Bacillus Calmette-Guerin (BCG) vaccine and characterized by severe diseases in childhood.

BCG vaccine, consanguinity, IL12Rβ1 deficiency, mendelian susceptibility to mycobacterial disease, primary immunodeficiency

December 7, 2019

In case of recurrent wheezing and bronchiolitis: Think again, it may be a primary immunodeficiency

Wheezing, starting early in life, is a heterogeneous medical condition caused by airway obstruction due to different underlying mechanisms. Primary immunodeficiencies are also among the risk factors that cause wheezing and recurrent bronchiolitis. ADA deficiency is a primary immunodeficiency, also a rare metabolic disease associated with multisystemic clinical findings.

ADA deficiency, Lymphopenia, primary immunodeficiency, relative CD4 deficiency, Wheezy infant