RESUMEN
Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients.
Asunto(s)
Síndromes de Inmunodeficiencia , Humanos , Proteína 10 de la LLC-Linfoma de Células B/genética , Trasplante de Médula Ósea , Síndromes de Inmunodeficiencia/diagnóstico , Síndromes de Inmunodeficiencia/genética , Síndromes de Inmunodeficiencia/terapia , Mutación/genéticaRESUMEN
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.