Wednesday, 16 Jan 2019

You are here

Autoimmunity in the Setting of Primary Immunodeficiency

There are many avenues for interdisciplinary collaboration within rheumatology, as our specialty encompasses every organ system and diseases with protean manifestations. The intersection of rheumatology and immunology is well known and has become increasingly important, given the association of autoimmune conditions with many of the primary immunodeficiency syndromes. This intersection was highlighted today at ACR by two excellent abstracts.

The first was presented during the plenary session and was the result of a multi-center collaboration – Screening of patients with adult-onset idiopathic polyarteritis nodosa for deficiency of adenosine deaminiase 2 (DADA2) (abstract #2790). DADA2 is a rare genetic disorder associated with inflammation in various tissues, including vasculitis and risk of stroke.  In particular it is known to be associated with polyarteritis nodosa (PAN). The investigators of this study looked at the prevalence of DADA2 in patients with presumed idiopathic PAN. 117 patients with idiopathic PAN (all negative for hepatitis B) were screened for mutations in ADA2 and 6.8% had rare missence variants in ADA2. While there were no clinical differences between PAN patients with or without these mutations, this may have implications in screening family members as well as for treatment, as TNF inhibitors are often used to treat DAD2, but are not often used for PAN.

The second abstract (#2838), presented by Kevin Byram, was a study examining what are the most common primary immunodeficiency (PID) syndromes associated with vasculitis. They did this by querying the USIDNET, a national consortium of PID patients, for vasculitis cases. 76 patients with vasculitis (out of 4,888 PID cases) were identified. The most common PID associations were common variable immunodeficiency (38%) and Wiskott-Aldrich Syndrome (26%). Interestingly, CNS vasculitis was the most common specific vasculitis syndrome identified (14%), and vasculitis cases were reported to be present before or at the time of PID diagnosis ~50% of the time. While vasculitis is an uncommon complication of PID, it is important for rheumatologists to be aware of this entity.

 

 

 

Add new comment

More Like This

Early Predictive Factors for Scleroderma Renal Crisis

It has been historically said that risk factors for scleroderma renal crisis (SRC) includes include cold exposure, steroid use, dehydration, rapid progression of skin disease, tendon friction rubs, anti-RNA polymerase III antibodies and pregnancy.  A new study examines risk factor for SRC at the onset and diagnosis in systemic sclerosis patients. 

Best of 2018: Ustekinumab May be Effective in Lupus

Ronald F van Vollenhoven and colleagues have reported in Lancet that ustekinumab (UST), an interleukin-12 and -23 inhibitor, when added to usual therapy in systemic lupus erythematosus (SLE) patients, was shown to be superior to placebo at improving clinical efficacy and laboratory parameters after 6 months of therapy.

Nailfold Videocapillaroscopy in Dermatomyositis

A study of nailfold videocapillaroscopy (NVC) in patients with idiopathic inflammatory myopathies (IIMs) finds abnormalities in more than half of patients suggesting this could be a useful clinical tool in diagnosing and managing patients with IIM. 

TIF1-Ab in Dermatomyositis Linked to Higher Cancer Risk

Several epidemiological studies have reported that a diagnosis of DM or PM may be associated with increased cancer risk. The association appears stronger for DM than PM. Based on a meta-analysis, DM cancer risk is five times higher than in the general population and twice that compared with PM cancer risk. 

Genetic Diagnosis for Previously Undiagnosed Disorders

The NEJM has reported the NIH's Undiagnosed Diseases Network (UDN) study results of genetically identifying new diseases from prospectively followed persons with undiagnosed disorders. The UDN was formed in 2014 as a network of seven clinical sites, two sequencing cores, a coordinating center, central biorepository, a metabolomics core, and a model organisms screening center. It was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases.