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NEW YORK (Reuters Health) – Infection is the most frequent initial presenting manifestation of inborn errors of immunity (IEI), but both immune dysregulation and syndromic features may be indicative of these rare diseases, according to an analysis of registry data.

In a paper in the Journal of Allergy and Clinical Immunology, can you take gabapentin and adderall Dr. Stephan Ehl of Albert-Ludwigs University, in Freiburg, Germany, and colleagues note that the rarity of these conditions makes diagnosis a challenge. Estimated prevalence ranges from 2.7 per 100,000 in Germany to 11 per 100,000 in the U.K.

Currently, the authors say, there are more than 450 different IEIs known. Most of them have a specific monogenetic cause but there may be a potential harmful delay of several years between initial manifestations and diagnosis. Awareness of warning signs among non-specialists could help shorten this delay.

To help make the process more effective, in 2013 the European Society for Immunodeficiencies registry introduced data fields to record the initial disease-related clinical features of IEI patients. In the current study, the researchers present an analysis of this aspect of the dataset in more than 16,400 patients. Due to limited numbers, those with autoinflammatory diseases were excluded.

Altogether 89% of were analyzed for the age at symptom onset and one-third showed a first manifestation retrospectively related to the IEI within the first year of life and another third did so between the ages of one and five years. More than 75% of patients had had symptoms before the age of 16 years.

Initial presentation was with infection without immune dysregulation in 68% of patients. Immune dysregulation alone was seen in 9% and a further 9% showed a combination of both. Other presenting symptoms included asthma and ataxia.

Syndromic manifestations were the presenting feature in 12%. This broad category included, for example, dysmorphic features and heart or kidney defects and hearing abnormalities. Laboratory anomalies alone were seen in 4%, 1.5% were diagnosed due to family history, and 0.8% presented with malignancy.

Between the age of 6 and 25 years, immune dysregulation was the most frequently recognized initial manifestation. Up to the age of 10 years more than 60% thus involved were boys. This shifted to female predominance after the age of 40 years.

Thus, say the researchers, “An exclusive focus on infection-centered warning signs would have missed around 25% of IEI patients that initially present with other manifestation.”

“Our results,” they conclude, “provide a data-based rationale to add immune dysregulation and syndromic features to the primary immunodeficiency warning signs, which we hope will improve the early diagnosis of IEI.”

Dr. Ehl did not respond to requests for comment.

SOURCE: https://bit.ly/3b6JDNo Journal of Allergy and Clinical Immunology, online April 22, 2021.

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