Aproximación diagnóstica ultrasonográfica prenatal al síndrome de Omenn: reporte de caso / Prenatal ultrasound diagnostic approach to Omenn syndrome: case report

Objetivo: reportar el caso de una gestante con diagnóstico ultrasonográfico de alteración del sistema tegumentario fetal y diagnóstico posnatal de síndrome de Omenn. Presentación de caso: se presenta el caso de paciente de 27 años con embarazo de 31 semanas, con exploración ultrasonográfica prenatal que evidencia feto con edema significativo del cuero cabelludo, líquido amniótico ecogénico y descamación de la piel abdominal, con aproximación diagnóstica ultrasonográfica de variante de ictiosis. El recién nacido presentó eritrodermia congénita complicada con infección de piel, con posterior choque séptico y muerte. El estudio genético y patológico concluye síndrome de Omenn. Conclusión: el síndrome de Omenn debe ser tomado en cuenta en los diagnósticos diferenciales cuando en la ultrasonografía prenatal existan hallazgos ultrasongráficos de una alteración del sistema tegumentario. Se requieren estudios que evalúen la exactitud del ultrasonido en el diagnóstico antenatal de las eritrodermias.

Objective: To report the case of a pregnant woman with ultrasound diagnosis of altered fetal tegumental system and postnatal diagnosis of Omenn syndrome. Case presentation: A 27-year-old patient who presented at 31 weeks of gestation with prenatal ultrasound evidence of a fetus with significant scalp edema, echogenic amniotic fluid and scaly abdominal skin, with ichtyosis variant impression on diagnostic ultrasound. The baby was born with congenital erythroderma complicated with skin infection, and later developed septic shock and died. The genetic and pathologic workup led to the conclusion of Omenn syndrome. Conclusion: Omenn syndrome must be considered as part of the differential diagnoses when prenatal ultrasound shows findings of altered tegument system. Studies are required to assess the accuracy of ultrasound for prenatal diagnosis of erythroderma.

Analysis of clinical phenotype and genetic diagnosis in patients with Omenn syndrome / 临床儿科杂志

Objective To investigate the clinical features and genetic change of Omenn syndrome. Method Clinical data of two sporadic patients with Omenn syndrome and their family members were collected, and next generation sequencing was used to analyze immunodeficiency associated genes. Results Two patients (one boy and one girl) had a history of recurrent infection and skin rash. The level of IgA, IgM and IgG was decreased. Both of them have a lower level of CD8+T lymphocytes and CD19+B lymphocytes, but the number of NK cells increased. Sequencing found a homozygous mutation (c.1211G>A) in RAG1 gene in the girl,and both her father and mother were heterogeneous carrier of this mutation.In the boy,we found novel compound heterozygous mutations,c.830A>G and c.104G>C in RAG2R gene,inherited from his mother and father,respectively. Bioinformatics predicts that these two mutations are likely to be pathogenic. Conclusions The age of Omenn syndrome onset was earlier, with compromised immunological function. Gene detection was helpful for early diagnosis. We found that two novel mutations in RAG2R could cause Omenn syndrome.

Eritrodermia en lactante con inmunodeficiencia: A propósito de un caso / Erythroderma in infancy associated with immunodeficiency: A case report

La eritrodermia en niños pequeños es una rara patología. Los médicos debemos estar atentos frente a la sospecha diagnóstica del síndrome de Omenn, un infrecuente trastorno que asocia una inmunodeficiencia combinada severa con: infecciones recurrentes, dermatitis exfoliativa, linfadenopatías, hepatoesplenomegalia, eosinofilia y niveles séricos altos de IgE. El trasplante de células madre hematopoyéticas es fundamental para la sobrevivencia. Presentamos una lactante de siete meses de vida, que cursaba con infección respiratoria y diarrea, asociadas a hepatoesplenomegalia y linfadenopatía diseminada. Se evidenciaron alteraciones complejas de la inmunidad, mediante exámenes de laboratorio.

Exfoliative dermatitis or erythroderma in infancy is rare. Clinicians need to be alert to the possible diagnosis of Omenn syndrome (OS), a rare form of combined immunodeficiency in infants presenting with recurrent infections, erythroderma, lymphadenopathy, hepatosplenomegaly, eosinophilia, and increased serum IgE levels. OS is fatal unless treated by hematopoietic stem cell transplantation. We described a seven months of age female patient with respiratory infection and diarrhea, associated with hepatosplenomegaly and disseminated lymphadenopathy. Were evident laboratory anomalies suspected a complex immunodeficiency problem.

The diverse phenotypes of RAG mutation associated immunodeficiency / 国际儿科学杂志

RAG mutations cause a spectrum of severe immunodeficiencies ranging from classical severe combined immunodeficiency( SCID) and Omenn syndrome to an increasing number of peculiar phenotypes. Based on the distinct levels of RAG expression in various patients, their immunophenotypes, histopathological findings and clinical manifestations are diverse. The subtypes of RAG-defect diseases have been described as classical SCID,SCID with maternal T cells,classical Omenn syndrome,atypical Omenn syndrome,granuloma-tous inflammation,predominance/expansion of γδ-T cells and maternal T-cell engraftment. The complete failure or partial blockage of lymphocyte development and differentiation can cause repeated infections with autoimmune reactions frequently,and may be lethal. Thorough assessment and interpretation of various phenotypes will guide accurate diagnosis,definitive treatment and the mechanism research.

A Case of Omenn Syndrome in a Patient Treated for Chronic Diarrhea and Severe Exfoliative Erythrodermia / 소아알레르기및호흡기학회지

Omenn syndrome (OS) is a peculiar, autosomal recessive severe combined immunodeficiency (SCID) associated with early-onset, generalized, exudative erythrodermia, lymphadenopathy, hepatosplenomegaly, hypereosinophilia, elevated serum IgE, and normal to highly activated, yet non-functional oligoclonal T cells. Recently, abnormalities in both alleles of either recombinant activating genes (RAG) 1 or RAG2 genes are found in all OS patients. Therapeutic option is stem cell transplantation, however, the mortality is still 40-50 percent. We experienced a case of OS with severe exudative erythrodermia, chronic diarrhea and recurrent septicemia in a 4 months old boy. He showed RAG1 mutation and was treated with stem cell transplantation but died. We report a case of OS with RAG1 mutation.