Hyperimmunoglobulin E syndrome




Hyperimmunoglobulin E syndrome

Immune system

General infections


Neonatal sepsis


Hypersensitivity reactions

Type I hypersensitivity

Food allergy



Type II hypersensitivity

Immune thrombocytopenic purpura

Autoimmune hemolytic anemia

Hemolytic disease of the newborn

Goodpasture syndrome

Rheumatic heart disease

Myasthenia gravis

Graves disease

Pemphigus vulgaris

Type III hypersensitivity

Serum sickness

Systemic lupus erythematosus

Poststreptococcal glomerulonephritis

Type IV hypersensitivity

Graft-versus-host disease

Contact dermatitis


Transplant rejection

Graft-versus-host disease

Cytomegalovirus infection after transplant (NORD)

Post-transplant lymphoproliferative disorders (NORD)


X-linked agammaglobulinemia

Selective immunoglobulin A deficiency

Common variable immunodeficiency

IgG subclass deficiency

Hyperimmunoglobulin E syndrome

Isolated primary immunoglobulin M deficiency

Thymic aplasia

DiGeorge syndrome

Severe combined immunodeficiency

Adenosine deaminase deficiency


Hyper IgM syndrome

Wiskott-Aldrich syndrome

Leukocyte adhesion deficiency

Chediak-Higashi syndrome

Chronic granulomatous disease

Complement deficiency

Hereditary angioedema


Immune system organ disorders


Ruptured spleen

Immune system pathology review

Blood transfusion reactions and transplant rejection: Pathology review

Immunodeficiencies: T-cell and B-cell disorders: Pathology review

Immunodeficiencies: Combined T-cell and B-cell disorders: Pathology review

Immunodeficiencies: Phagocyte and complement dysfunction: Pathology review


Hyperimmunoglobulin E syndrome


0 / 9 complete

USMLE® Step 1 questions

0 / 1 complete

High Yield Notes

10 pages


Hyperimmunoglobulin E syndrome

of complete


USMLE® Step 1 style questions USMLE

of complete

A 20-year-old man presents to his primary care physician due to cough and shortness of breath. The patient’s cough is productive of yellow, blood-tinged sputum. The patient has had recurrent pneumonia over the past ten years treated with oral antibiotics. Past medical history is significant for eczema since the newborn period, as well as recurrent pustular and eczematous rashes on the face and scalp throughout childhood. He underwent extraction of his primary teeth at the age of 14 years due to failure of eruption of secondary teeth. Family history is significant for similar symptoms in the patient’s mother. Temperature is 38.7 C (101.7 F), pulse is 90/min, respirations are 25/min and blood pressure is 110/70 mmHg. Physical examination demonstrates a broad nose, prominent lower lip, deep-set eyes with a prominent forehead, and a rough complexion with exaggerated pore size. Auscultation of lungs demonstrates bilateral rales in the lower lung fields and decreased breath sounds at the right lung base. Which of the following laboratory abnormalities is most likely to be observed in this patient?

External References

First Aid








Autosomal dominant disorders

hyper-IgE syndrome p. 114

Autosomal dominant hyper-IgE syndrome


hyper-IgE syndrome p. 114, 716

Hyper-IgE syndrome

presentation p. 716


Hyperimmunoglobulin E syndrome (HIES) is a genetic disorder caused by STAT3 gene mutation. It is characterized by Th17 cell deficiency, impaired neutrophil recruitment to sites of infection, and increased serum IgE concentrations. People with HIES physically present with coarse facial features, recurrent staphylococcal abscesses, retained primary teeth, and eczema.


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