Introduction to Dysregulation Syndrome

, HIV) to include a myriad of immune-dysregulation syndromes (e.

Hypersexuality, compulsive shopping, binge eating and pathological gambling are known as the major ICDs, however hobbyism, punding, hoarding, and dopamine dysregulation syndrome are also classified in the broad spectrum of ICDs, which are common in patients with PD, in the course of the disease (3).

BACKGROUND LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the LRBA gene.

Dopamine dysregulation syndrome is a rare complication of Parkinson’s disease (PD) treatment.

In recent years, monogenic causes of immune dysregulation syndromes, with variable phenotypes, have been documented.

Objectives: To explore the presence of dopamine dysregulation syndrome in non-Parkinson’s disease patients receiving dopamine replacement therapy.

At least two ICDs were found in 14% of patients and dopamine dysregulation syndrome in 10.

In conclusion, we report the novel association of CTLA-4 haploinsufficiency and concurrent presence of AGL and providing evidence that AGL can occur within the spectrum of immune dysregulation syndromes, opening the door to investigating these pathways as an etiology for an autoimmune variety of AGL.

Molecular findings were obtained by next generation sequencing analysis of genes involved in immune dysregulation syndromes.

Human CTLA‐4 insufficiency is caused by heterozygous germline mutations in CTLA4 and characterized by a complex immune dysregulation syndrome.

To the Editor: One recently discovered immune dysregulation syndromes is deficiency of adenosine deaminase 2 (DADA 2) caused by biallelic loss of functionmutations inADA2, previously known as CECR1 [1–3].

BACKGROUND X-linked immunodysregulation syndrome with polyendocrinopathy and enteropathy (IPEX) is caused by FOXP3 gene mutations that block the generation of regulatory T lymphocytes.

In addition to these behaviors, others include punding (stereotyped, repetitive, purposeless behaviors), compulsive medication use, or the dopamine dysregulation syndrome (DDS), and, more recently, the dopamine agonist withdrawal syndrome (DAWS) has been recognized and defined.

Such assays are increasingly vital for the study of immune function in both healthy individuals and patients with a variety of autoimmune and immune dysregulation syndromes.

Background: CTLA-4 (cytotoxic T-lymphocyte-associated protein 4) deficiency is a widely known cause of immunodeficiency and autoimmunity, determining an immune dysregulation syndrome.

Impulsive compulsive behaviours (ICBs) such as dopamine dysregulation syndrome (DDS), pathological gambling, compulsive sexual behaviour, punding, compulsive shopping and binge eating are recognised complications of dopaminergic treatment that affect at least one in seven patients with Parkinson’s disease (PD).

A possibility of underlying immune dysregulation syndrome was considered in view of long-standing chronic sinusitis, adenopathy and hepatosplenomegaly.