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Skin lesions
Research project

Skin lesions in Primary Immunodeficiencies (PIDs)

Status: Ongoing

We strive to raise awareness of PIDs by recognizing specific skin lesions as a possible clinical symptom of PIDs.

What we do

About our project

Background information 

Based on registries it is estimated that six million people are living with a primary deficiency (PID) worldwide, whereas only 1% have been identified. Next to recurrent and/or severe infections, patients often show skin lesions. While skin infections induced by the bacterium Staphylococcus (S.) aureus are the most common infectious skin disorders in PIDs, dermatitis is one of the most predominant non-infectious skin manifestations and may be part of the atopic syndrome. Patients with an atopic constitution risk developing food allergies, asthma and allergic rhinitis next to atopic dermatitis.

Overall aim 

First, we aim to provide an overview of skin lesions and their prevalences in patients with PIDs, including the relation between PIDs and S. aureus related skin lesions and atopy. The occurrence of specific skin conditions from this overview in combination with other clinical features suggestive of an immune defect should alert clinicians to an underlying PID and may facilitate earlier diagnosis of PIDs. Second, we would like to study the effectiveness of local target therapy against S. aureus.

Research method 

  1. Systematic literature study to give insight in the skin lesions and their prevalences per associated PID.
  2. Questionnaire study on skin lesions in patients with PIDs from the Immunology outpatient clinic of Erasmus MC to validate the results of the literature study.
  3. Clinical study on the effect of treatment of S. aureus associated skin lesions in patients with PIDs from the Immunology outpatient clinic of Erasmus MC.
  4. Genetic study on genes involved in atopy, using atopy associated PID genes.

Desirable outcome

We strive to raise awareness of PIDs by recognizing specific skin lesions as a possible clinical symptom of PIDs. Secondary, we would like to improve treatment of skin lesions in PIDs, for example by target therapy against S. aureus.