RT Journal Article
SR Electronic
T1 Obstructive uropathy in STAT 3 hyper immunoglobulin E syndrome
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 851
OP 856
DO 10.15537/smj.2024.45.8.20240123
VO 45
IS 8
A1 Bukhari, Esraa M.
A1 Alsaidalani, Ashwag A.
YR 2024
UL http://smj.org.sa/content/45/8/851.abstract
AB Autosomal dominant hyper immunoglobulin E (IgE) syndrome is a rare inborn error of immunity that affects approximately one in a million individuals worldwide. It presents with various symptoms owing to multisystem involvement (immunological and non-immunological). Recurrent infections (mainly in the skin and lungs) are common presentations. A 5-year-old Middle Eastern boy presented with symptoms suggestive of obstructive uropathy secondary to multiple large pelviabdominal abscesses and acute kidney injury with hyperkalemia that necessitated admission to the intensive care unit. Upon further investigation, the patient’s genetic test (whole exome sequencing) demonstrated a heterozygous missense variant in the STAT3 gene. The patient completely recovered and did not require further admission after initiating prophylactic antibiotics. Although deep-seated infections are uncommon in STAT3 hyper IgE syndrome, skin and lung infections are most commonly observed. Multiple deep collections can occur and require prompt intervention and aggressive treatment.