Red flags to suspect inborn errors of immunity in patients with autoimmune diseases.

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Bibliographic Details
Title:	Red flags to suspect inborn errors of immunity in patients with autoimmune diseases.
Alternate Title:	Señales de alerta para sospechar de errores innatos de la inmunidad en pacientes con enfermedades autoimmunitarias.
Authors:	Vélez, Natalia^1,2, De Ávila, Juliette¹, Cortés, Jaime³, Barrero, Nelson⁴, Rojas, Leosirlay⁵, Manuel Bello, Juan^4,6,7, Romero-Sánchez, Consuelo^1,4,6,7
Source:	Biomédica: Revista del Instituto Nacional de Salud. 2024 Supplement, Vol. 44, p236-262. 27p.
Subjects:	SYSTEMIC lupus erythematosus, INFLAMMATORY bowel diseases, AUTOIMMUNE diseases, DISEASE relapse, GENETIC counseling
Abstract (English):	Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity. The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review. The study followed the systematic reviews and meta-analysis guidelines (PRISMA). After selection, we included 36 articles, and their methodological quality was verified using the Joanna Briggs Institute tools for individual risk of bias analysis. The principal red flags in autoimmune cytopenias are chronic, recurrent, and refractory cytopenias, recurrent infection, severe infectious complications associated with immunosuppressive treatment, and chronic lymphoproliferation. In systemic lupus erythematosus, red flags include age of onset before five years, severe organ involvement, chilblain lesions, and chronic lymphoproliferation. For inflammatory bowel diseases, red flags are an age of onset before two years, resistance to conventional therapies, atypical endoscopic or histologic findings, and consanguineous parents. Autoimmune diseases may be the primary manifestation of inborn errors of immunity in pediatric and adult patients. An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling. [ABSTRACT FROM AUTHOR]
Abstract (Spanish):	Los errores innatos de la inmunidad son trastornos monogénicos que predisponen a los pacientes a la desregulación inmunitaria, la autoinmunidad y las infecciones. Algunas enfermedades autoinmunitarias, como las citopenias autoinmunitarias, el lupus eritematoso sistémico y las enfermedades inflamatorias intestinales son cada vez más reconocidas como errores innatos de la inmunidad. El objetivo de este artículo fue investigar las señales de alerta clínicas o de laboratorio que pueden hacer sospechar errores innatos de la inmunidad en pacientes con citopenias autoinmunitarias, lupus eritematoso sistémico y enfermedades inflamatorias intestinales, mediante una revisión sistemática de la literatura. El estudio se realizó bajo los parámetros para revisiones sistemáticas y metaanálisis (PRISMA). Después de la selección, se incluyeron 36 artículos cuya calidad metodológica se verificó por medio de las herramientas para el análisis individual del riesgo de sesgo del Joanna Briggs Institute. Las principales señales de alerta en las citopenias autoinmunitarias son presentación crónica, recurrente y resistente al tratamiento, infecciones recurrentes, complicaciones infecciosas graves asociadas con el tratamiento inmunosupresor y linfoproliferación crónica. En el lupus, las señales de alerta incluyen una edad de inicio antes de los 5 años, compromiso grave de órgano blanco, perniosis y linfoproliferación crónica. Finalmente, las señales de alerta en la enfermedad inflamatoria intestinal son la edad de inicio antes de los 2 años, la resistencia a los tratamientos convencionales, los hallazgos atípicos en la endoscopia o la histología, y la consanguinidad en los padres. Las enfermedades autoinmunitarias pueden ser la primera manifestación de los errores innatos de la inmunidad. El diagnóstico temprano de un defecto monogénico permite iniciar oportunamente el tratamiento farmacológico dirigido, ofrecer información sobre el pronóstico y brindar asesoría genética. [ABSTRACT FROM AUTHOR]
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Database:	MedicLatina

Description
Abstract:	Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity. The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review. The study followed the systematic reviews and meta-analysis guidelines (PRISMA). After selection, we included 36 articles, and their methodological quality was verified using the Joanna Briggs Institute tools for individual risk of bias analysis. The principal red flags in autoimmune cytopenias are chronic, recurrent, and refractory cytopenias, recurrent infection, severe infectious complications associated with immunosuppressive treatment, and chronic lymphoproliferation. In systemic lupus erythematosus, red flags include age of onset before five years, severe organ involvement, chilblain lesions, and chronic lymphoproliferation. For inflammatory bowel diseases, red flags are an age of onset before two years, resistance to conventional therapies, atypical endoscopic or histologic findings, and consanguineous parents. Autoimmune diseases may be the primary manifestation of inborn errors of immunity in pediatric and adult patients. An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling. [ABSTRACT FROM AUTHOR]
ISSN:	01204157
DOI:	10.7705/biomedica.7561