background participants

Participant 011

nasal polyps
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Male, age 55, with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm), and neuropathy caused by changes in the IFIH1 gene

Date of Report

Oct 28, 2016


The patient began to have episodes of wheezing and shortness of breath in his 20s. These symptoms did not improve with inhalers, but did respond to prednisone. His asthma flares continued to occur 1-2 times per year and between flares, he felt well.

In his mid 40s, the patient began to have asthma flares more frequently. He lost his sense of smell (anosmia) and was found to have nasal polyps. A surgery to remove the polyps (nasal polypectomy) helped his symptoms; however, a month after surgery he developed a foul odor and taste from his right sinus. Antibiotics were unable to relieve his symptoms and his polyps came back, along with mucosa growth. He had two more surgeries and has had severe, constant sinus congestion ever since. Since then, cultures have been positive for Staph, mold, and pseudomonas.

In 2012, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm) was found incidentally on a chest CT.

The patient has also developed a “cold” feeling in both feet and a sense of pins and needles, which has been moving up his legs. This sensation has progressed to involve the arms.

Symptoms / Signs
  • Chronic sinus infections (sinusitis)
  • Seasonal allergies (allergic rhinitis)
  • Impaired temperature sensation
  • Chronic fatigue
  • Staph infections
  • Reduced levels of gamma globulins (hypogammaglobulinemia)
  • Abnormal antibody levels (IgM deficiency, increased IgG level)
  • Increased lipid levels in blood (hyperlipidemia)
  • Abnormal white blood cell levels (eosinophilia, lymphocytopenia, increased number of peripheral CD3+ T cells)
  • Abnormality of the optic nerve
  • Reduced or absent eye pigment (ocular albinism)
  • Nearsightedness (myopia)
  • Nasal polyps
  • Middle ear abnormality (abnormality of the Eustachian tube)
  • Ear infections (recurrent otitis media)
  • Chronic ear pain
  • Bulging, weakened wall of the aortic root (aortic root aneurysm)
  • Inflammation of blood vessels (vasculitis)
  • Rapid resting heart rate (tachycardia)
  • Partial collapse of lung (atelectasis)
  • Asthma like symptoms, non-responsive to conventional treatment
  • Shortness of breath (dyspnea)
  • Acid reflux disease (gastroesophageal reflux)
  • Inflammation of the esophagus (esophagitis)
  • Hernia in upper part of the stomach (hiatus hernia)
  • Pain in the groin (inguinal groin pain)
  • Mild liver and spleen enlargement (hepatosplenomegaly)
  • Blood clot in deep vein (deep venous thrombosis)
  • Joint and muscle pain
Current Treatments
  • Nucala injection- asthma, upper respiratory
  • Lexapro- depression and anxiety
  • Amlodipine, Hyzaar – high blood pressure
  • Prednisone- asthma, joint pain, general inflamation
  • Levalbuterol, ProAir HFA 108- asthma
  • Clarithromycin, Tobramycin OP, Vancomycin- antibiotic for infections
  • Cyclophosphamide, Hyqvia- immunotherapy
  • Restoril- insomnia
Prior Treatments
  • Nasal polypectomy- nasal polyps
  • Sinus surgeries
  • Laparoscopic Nissen fundoplication- gastroesophageal reflux disease
Considered treatments
Previously Considered Diagnoses
  • Combined Variable Immunodeficiency
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
see gene page
see gene page
see gene page
see gene page
see gene page

If this participant sounds like you or someone you know, please contact us!


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