Hyperimmunoglobulin E syndrome

High Yield Notes

10 pages

Flashcards

Hyperimmunoglobulin E syndrome

de completadas

Preguntas

Preguntas del estilo USMLE Step 1

de completadas

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

2024

2023

2022

2021

Autosomal dominant disorders

hyper-IgE syndrome p. 114

Autosomal dominant hyper-IgE syndrome

Eczema

hyper-IgE syndrome p. 114, 722

Hyper-IgE syndrome

presentation p. 722

Resumen

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.

Elsevier

Copyright © 2024 Elsevier, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Cookies are used by this site.

USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.

RELX