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Participant 072


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Female, age 26 with recurrent and severe bacterial, viral, and fungal infections

Date of Report

Jun 04, 2018

Description

The participant’s first infection occurred when she was a newborn. At this time, she had an infection in the umbilical cord area, which required hospitalization. Since then, she has had a long history of recurrent infections, including viral (shingles), fungal (onychomycosis), and bacterial (bronchopulmonary) infections. As a child, she had frequent courses of antibiotics. She was seen by an immunologist at the age 16 for four episodes of chickenpox (varicella) and was found to have increased antibody (IgE) levels.

Since then, she has undergone sinus surgery, as well as lung drainage and removal of a piece of the lung (lobectomy) for these recurrent infections. Due to this history and increased antibody (IgE) levels, she is being treated as though she has Job syndrome. However, she does not have a clear diagnosis and has had negative genetic testing for this syndrome.

Symptoms / Signs
  • Recurrent skin, viral, and upper respiratory infections (recurrent shingles and bronchopulmonary infections)
  • Increased antibody (IgE) levels
  • Increased white blood cell (eosinophil) count
  • Eczema
  • Weak bone structure (pathologic fracture)
  • High palate
  • Persistence of primary teeth
  • Lung cavity (pulmonary pneumatocele)
  • Curvature of the spine (scoliosis)
  • Fungal infection of the toes (onychomycosis)
Current Treatments
  • IgG replacement therapy- frequent infections
  • Prophylactic anti-microbials- frequent infections
Prior Treatments
  • Antibiotics, antimicrobials, IVIG, endoscopic sinus surgery, lung drainage, right upper lobectomy – frequent infections
Considered treatments
Previously Considered Diagnoses
  • Job syndrome – no STAT3 variant found
Other Photographs
Genetic Variants of Interest
Contact

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