Studies of children with recurrent infection demonstrate that primary immunodeficiency (PID)
has a significant genetic component. In PID, over 300 genes of high penetrance inherited …

The immune system is inseparable from every part of human biology. From cell intrinsic
mechanisms of pathogen recognition to multi-cellular interactions over vast ranges of time …

Primary immunodeficiency diseases (PIDs) are a group of disorders caused by defects in
one or multiple components of the immune system. PID patients usually present with …

Gene analysis of seven cases of primary immunodeficiency - PMC Back to Top Skip to main
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Genetic testing in primary immunodeficiency cannot be standardized, but instead needs to
be personalized based on the presenting phenotype and a basic understanding of the utility …

■ Abstract Objectives: We analyzed the clinical features of 138 patients with primary
immunodeficiency (PID) and performed genetic testing on a subset of patients in order to …

Background Common variable immunodeficiency (CVID) comprises a heterogeneous group
of primary antibody deficiencies with complex clinical and immunological phenotypes. The …

The primary immunodeficiency disorders are clinically heterogeneous diseases, the majority
of which arise from inborn errors in immunologically relevant genes. A high index of …

Primary immunodeficiencies are rare, but important for 3 reasons. First, a high index of
suspicion and prompt diagnosis can lead to lifesaving treatment or significant improvement …

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …