Recommended Citation
Glusman JW, Mansur J, Logsdon M. The Bare Truth Behind a Sore Throat. Presented at Scientific Day; May 21, 2025; Park Ridge, IL.
Abstract
Introduction/Background:
A fully vaccinated 16-year-old female from Mexico with PMH of sinusitis requiring surgery, presented with a three-month history of chronic pharyngitis despite multiple courses of antibiotics, difficulty swallowing, voice changes, fevers, chills, and a 30-pound weight loss. ROS revealed acute-onset worsening throat pain, right-sided headache, ear pain, cough, and biliteral lacrimation. On exam, she was non-toxic, visibly uncomfortable. She had a severely muffled voice, lacrimation, bilateral tonsillar hypertrophy, pseudomembranes on right tonsil/pharynx, and difficulty swallowing thick secretions. Her neck was supple with normal ROM and no tenderness. She saturated well on room air but was tachycardic, had mild hepatosplenomegaly, and mild non-pitting edema of bilateral lower extremities.
Description:
Serum studies revealed pancytopenia, lymphopenia, elevated inflammatory markers, elevated EBV IgG, and significant depletion of T and B cells. She tested negative for HIV twice. Throat biopsy cultures were positive for resistant pseudomonas and yeast, negative for diphtheria. CT and MRI identified significant retropharyngeal edema, tonsillitis, supraglottitis, thickening of the epiglottis creating a critical airway, diffuse pansinusitis, and gallstones. Bone marrow and tonsil biopsy flow cytometry were negative. Her symptoms never resolved despite multiple rounds of antibiotics while inpatient. Given the cytopenias and chronicity and progression of symptoms, there was high suspicion for underlying immunodeficiency. Immunology testing revealed a diagnosis of autosomal recessive hereditary major histocompatibility complex class I deficiency, also known as Bare Leukocyte Syndrome (BLS) Type I. This is an extremely rare subtype of severe combined immunodeficiency syndrome (SCID), with only 30 cases reported in medical literature. It can sometimes be treated with a stem cell transplant. Three days before this patient’s scheduled transplant she suffered an episode of massive hematemesis, and despite several attempts to secure her airway, she went into cardiac arrest and expired.
Discussion:
BLS typically presents in the first year of life with recurrent infections and often results in death before puberty, like other congenital immunodeficiencies. Rarely, patients with a heterotypic phenotype can present later in life, as in this case. Therefore, when presenting symptoms are chronic or resistant to treatment, suspicion should remain high for immunodeficiencies regardless of age.
Presentation Notes
Presented at Scientific Day; May 21, 2025; Park Ridge, IL.
Full Text of Presentation
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Document Type
Poster
The Bare Truth Behind a Sore Throat
Introduction/Background:
A fully vaccinated 16-year-old female from Mexico with PMH of sinusitis requiring surgery, presented with a three-month history of chronic pharyngitis despite multiple courses of antibiotics, difficulty swallowing, voice changes, fevers, chills, and a 30-pound weight loss. ROS revealed acute-onset worsening throat pain, right-sided headache, ear pain, cough, and biliteral lacrimation. On exam, she was non-toxic, visibly uncomfortable. She had a severely muffled voice, lacrimation, bilateral tonsillar hypertrophy, pseudomembranes on right tonsil/pharynx, and difficulty swallowing thick secretions. Her neck was supple with normal ROM and no tenderness. She saturated well on room air but was tachycardic, had mild hepatosplenomegaly, and mild non-pitting edema of bilateral lower extremities.
Description:
Serum studies revealed pancytopenia, lymphopenia, elevated inflammatory markers, elevated EBV IgG, and significant depletion of T and B cells. She tested negative for HIV twice. Throat biopsy cultures were positive for resistant pseudomonas and yeast, negative for diphtheria. CT and MRI identified significant retropharyngeal edema, tonsillitis, supraglottitis, thickening of the epiglottis creating a critical airway, diffuse pansinusitis, and gallstones. Bone marrow and tonsil biopsy flow cytometry were negative. Her symptoms never resolved despite multiple rounds of antibiotics while inpatient. Given the cytopenias and chronicity and progression of symptoms, there was high suspicion for underlying immunodeficiency. Immunology testing revealed a diagnosis of autosomal recessive hereditary major histocompatibility complex class I deficiency, also known as Bare Leukocyte Syndrome (BLS) Type I. This is an extremely rare subtype of severe combined immunodeficiency syndrome (SCID), with only 30 cases reported in medical literature. It can sometimes be treated with a stem cell transplant. Three days before this patient’s scheduled transplant she suffered an episode of massive hematemesis, and despite several attempts to secure her airway, she went into cardiac arrest and expired.
Discussion:
BLS typically presents in the first year of life with recurrent infections and often results in death before puberty, like other congenital immunodeficiencies. Rarely, patients with a heterotypic phenotype can present later in life, as in this case. Therefore, when presenting symptoms are chronic or resistant to treatment, suspicion should remain high for immunodeficiencies regardless of age.
Affiliations
Advocate Children's Hospital