Healio
Healio

American Academy of Allergy, Asthma & Immunology Annual Meeting
February 28, 2014
1 min read
Save

Expert cites monogenic diseases associated with atopy

SAN DIEGO — There may be more monogenic disease associated with atopy than meets the eye, according to data presented here at the American Academy of Allergy, Asthma & Immunology annual meeting.

“With the advent of better technologies to find genes, which is working for us, but at the same time working against us; is the need to spend more time with patients to get their family histories. There is the potential for discovering newer monogenic disease of allergy and perhaps ones that are not so severe, and ways we can start to think about allergy that perhaps there is a single gene that’s causing this,” Joshua D. Milner, MD, Chief of the Allergic Inflammation Unit at the Laboratory of Allergic Diseases of the National Institute of Allergy and Infectious Diseases, said during a presentation.

Identifying severe infectious phenotypes or severe autoimmune phenotype often brings attention to the following monogenic diseases associated with allergy: Autosomal dominant hyper IgE syndrome (AD-HIES), Wiskott Aldrich Syndrome, Adenosine deaminase deficiency, dedicator of cytokinesis 8 (Dock8) deficiency, Omenn Syndrome, immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX), Loewys-Dietz Syndrome, Netherton’s Syndrome, sinobronchial allergic mycosis (SAM) Syndrome, and (PLC gamma 2-associated antibody deficiency and immune dysregulation (PLAID).

Milner said that in some cases, very subtle allergic and nonallergic symptoms point to phenotypes that could lead to a specific monogenic disease which could be used to improve outcomes in patients.

“The trait that you inherit, that everybody inherits, may not necessarily be the allergic trait, or it may be the allergic trait – that’s the question,” Milner said.

Although traits may not necessarily be severe or rare, it may just be that they run in the family with a few other symptoms, according to Milner. Whole exome sequencing can help identify these phenotypes, he said.

However, collecting family history information is a beneficial approach for identifying monogenic disease associated with atopy. – by Samantha Costa

Disclosure: Milner reports no relevant financial disclosures.

For More information:

Milner JD. #1610: Lessons Learned from Genetic Diseases of Allergy. Presented at the 2014 American Academy of Allergy, Asthma & Immunology annual meeting; Feb. 28-March 4, San Diego.