WBR0470

Author	[[PageAuthor::Yazan Daaboul, M.D. (Reviewed by Yazan Daaboul, M.D. and Alison Leibowitz [1])]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Immunology
Sub Category	SubCategory::Hematology
Prompt	[[Prompt::A 6-year-old boy is brought to the physician's office for concerns that he has a coarse face and an abnormal appearance. The mother explains that the patient has a long history of hospitalizations for lung infections. On physical examination, the physician notes the presence of multiple abscesses, simultaneous presence of primary and secondary teeth, and a facial eczema. Which of the following findings is most consistent with the patient's presentation?]]
Answer A	AnswerA::Low IgE levels
Answer A Explanation	[[AnswerAExp::Hyper IgE syndrome is characterized by abnormally high IgE levels.]]
Answer B	AnswerB::Abscess cultures growing gram-positive cocci
Answer B Explanation	AnswerBExp::Hyper IgE syndrome is characterized by cold abscess that typically grow ''S. aureus'' (gram-positive cocci), retained primary teeth, and early eczematoid rash that begins in infancy on the scalp and the face.
Answer C	AnswerC::Elevated IgG levels
Answer C Explanation	[[AnswerCExp::Elevated IgG levels are frequently observed following re-exposure to an antigen. Monocloncal IgG gammopathy is associated with multiple myeloma.]]
Answer D	AnswerD::Neutrophilia
Answer D Explanation	[[AnswerDExp::Neutrophilia is not usually present in Hyper IgE syndrome. Hyper IgE syndrome is characterized by abnormally high levels of IgE and eosinophilia. Eosinophilia is almost universally present in these patients. However, eosinophil levels do not correlate with the IgE values.]]
Answer E	AnswerE::Gradual reduction of all immunoglobulin levels
Answer E Explanation	[[AnswerEExp::The gradual reduction of immunoglobulin levels is characteristic of Wiskott-Aldrich syndrome.]]
Right Answer	RightAnswer::B
Explanation	[[Explanation::Hyper IgE syndrome (HIES) (Job's syndrome) is a rare primary immunodeficiency that is characterized by abnormally elevated IgE levels. Hyper IgE syndrome occurs in 2 forms: Autosomal dominant form (STAT3 gene mutation that causes a deficiency of the Th17 cells) and autosomal recessive form (unknown gene). Frequent manifestations and findings of the dominant form of Hyper IgE syndrome include elevated IgE levels, eczematoid rash that begins in infancy and typically involves the face and the scalp, and extracellular infections manifested by cold pustular abscesses that may be referred to as "boils". Abscesses usually grow Staphylococcus aureus on culture. Also, patients with Hyper IgE syndrome often have retained primary teeth due to failure of exfoliation. Consequently, patients simultaneously have 2 layers of primary and secondary teeth during childhood. In addition, patients usually have abnormal facies (facial asymmetry, broad nose, deep-set eyes, and prominent forehead), fractures following minimal trauma, and scoliosis during adolescence. Patients with Hyper IgE syndrome suffer from recurrent pyogenic pneumonias with minimal symptoms and usually have a long history of hospitalizations for lung infections. Similarly to the cold abscesses, sputum cultures in patients with pneumonias usually grow S. aureus. Pathognomonic lab findings include eosinophilia and extremely elevated IgE levels. Other abnormalities during lab work-up are not characteristic features of Hyper IgE syndrome. In contrast, signs and symptoms of patients with the recessive form of Hyper IgE syndrome include recurrent viral infections and neurological abnormalities. Educational Objective: Hyper IgE syndrome is a rare primary immunodeficiency that has 2 forms: Autosomal dominant form caused by a mutation of the STAT3 gene that results in deficiency of the Th17 cells and autosomal recessive form (unknown gene). Dominant-form Hyper IgE syndrome is characterized by coarse facial features, retained primary teeth, eczematoid rash, and cold staphylococcal abscesses. Lab work-up is remarkable for elevated IgE levels and eosinophilia. References: Freeman AF, Holland SM. The Hyper IgE syndromes. Immunol Allergy Clin North Am. 2008;28(2):277-91. Minegishi Y. Hyper IgE syndome. Curr Opin Immunol. 2009;21(5):487-492. First Aid 2014 page 212]]
Approved	Approved::Yes
Keyword	WBRKeyword::Job's syndrome, WBRKeyword::IgE, WBRKeyword::Coarse facies, WBRKeyword::Eczema, WBRKeyword::Teeth, WBRKeyword::Primary teeth, WBRKeyword::Abscess, WBRKeyword::Staphylococcus aureus, WBRKeyword::Cold abscesses, WBRKeyword::Hyper IgE syndrome, WBRKeyword::Eosinophilia
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