Espectro clínico de paciente mexicano con Síndrome de Hiper IgE con mutación heterocigota c.1144C>T (p.Arg382Trp), en STAT3 con valores normales de IgE.
Introducción: La mutación de STAT-3, dentro de los errores innatos de la […]
Syndromes associated with IDP
Diagnóstico tardío en paciente con infecciones recurrentes por mutación heterocigota del gen TBX1 con síndrome de deleción 22q11.2 y ampliación molecular de genes continuos.
Síndrome de DiGeorge o deleción de 22q11.2 es un error innato de
Ataxia telangiectasia. Presentación de dos casos clínicos.
Introducción. La ataxia telangiectasia es un trastorno autosómico recesivo caracterizado principalmente por
Ataxia telangiectasia. Presentación de dos casos clínicos. Read More »
Interferon signature in inborn errors of immunity: The source matters
Introduction: Type 1 interferons are critical in initial anti-viral responses. Increased type
Interferon signature in inborn errors of immunity: The source matters Read More »
Genetic diversity in a cohort of patients with hemophagocytic lymphohistiocytosis: a multicenter study in México.
Introduction: Hemophagocytic Lymphohistiocytosis (HLH) is characterized by systemic hyperinflammatory life-threatening syndrome where
Leiomyoma in a patient with Cartilage-Hair Hypoplasia.
Cartilage-hair hypoplasia (CHH) is caused by variants in the RMRP gene, which
Leiomyoma in a patient with Cartilage-Hair Hypoplasia. Read More »
Response to ursodeoxycholic acid and beta-blocker in patients with liver disorders due to common variable immunodeficiency
At least 10% of patients with common variable immunodeficiency I (CVID) have
ENFERMEDAD DE KIKUCHI FUJIMOTO EN UN PACIENTE CON SÍNDROME HIPERIGE. REPORTE DE UN CASO.
Introducción: La enfermedad de Kikuchi Fujimoto se presenta en el 4% de
ENFERMEDAD DE KIKUCHI FUJIMOTO EN UN PACIENTE CON SÍNDROME HIPERIGE. REPORTE DE UN CASO. Read More »
Invasive Nocardia infection in Cartilage-Hair Hypoplasia (CHH)
Introduction: CHH RMRP related disease is an autosomal recessive disorder, characterised by
Invasive Nocardia infection in Cartilage-Hair Hypoplasia (CHH) Read More »
Clinical and immunological characteristics in patients with 22q11 deletion syndrome
Introduction: We aim to describe the clinical and immunologic characteristics of a
Clinical and immunological characteristics in patients with 22q11 deletion syndrome Read More »
