Neurologic Involvement in Primary Immunodeficiency Disorders

Area of Science:

• Neurology
• Immunology
• Genetics

Background:

• Primary immune deficiency (PID) syndromes can impact the nervous system through various mechanisms including infection, autoimmunity, and neoplasia.
• Some neurological problems in PID patients do not fit established etiopathogenetic categories, suggesting a need for further investigation into the spectrum of nervous system involvement.

Purpose of the Study:

• To retrospectively examine patients with primary immune deficiency (PID) who were seen in neurology consultation between 2014 and 2017.
• To determine the full spectrum of nervous system involvement in PID patients, including primary neurological manifestations.

Main Methods:

• Retrospective analysis of 35 PID patients with confirmed neurological problems.
• Review of clinical data to identify common neurological manifestations and categorize their relationship to PID.

Main Results:

• Encephalopathy and global developmental/cognitive delay were common neurological manifestations in PID patients.
• In 37% of cases, neurological signs (e.g., acquired microcephaly, CNS malformation, peripheral neuropathy) were primary findings unrelated to treatment, infection, or vascular complications.
• In 17% of patients, the diagnosis of PID was established only after the onset of neurological manifestations.

Conclusions:

• Neurological presentation can be a primary feature of certain primary immune deficiency syndromes.
• The diagnosis of PID should be considered even when neurological symptoms lack apparent infectious, autoimmune, or neoplastic links.
• Neurologic manifestations may be the initial presenting sign in some types of PID, highlighting the importance of a comprehensive neurological evaluation.