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 […]
Case report
IDENTIFICATION OF A RARE VARIANT OF THE WAS GENE IN A MEXICAN PATIENT WITH ISOLATED THROMBOCYTOPENIA: A CASE REPORT
INTRODUCTION: Wiskott-Aldrich syndrome (WAS) is an inborn error of immunity whose pattern
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
Ruxolitinib for chronic GVHD after BMT in a patient with SCID: Case Report
Introduction: SCID is a medical emergency with the indication for early marrow
Ruxolitinib for chronic GVHD after BMT in a patient with SCID: Case Report Read More »
STAT1 GoF: not always the classic phenotype
Introduction: GoF mutations of STAT1 were initially associated with mucocutaneous candidiasis and
STAT1 GoF: not always the classic phenotype Read More »
Autoimmunity in Common Variable Immunodeficiency: Case report
Introduction: Common variable immunodeficiency (CVID) is a disease characterized by deficient antibody
Autoimmunity in Common Variable Immunodeficiency: Case report Read More »
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 »
Ruxolitinib combined with Hydroxychloroquine in a patient with alopecia universalis and an inborn error of immunity.
Introduction JAK/STAT pathways dysregulations can lead to a broad spectrum of immune
CHRONIC INVASIVE CUTANEOUS INFECTION CAUSED BY Cyphellophora spp. REVEALS CARD9 DEFICIENCY IN PREVIOUSLY HEALTHY ADULT WOMAN
Introduction. Invasive fungal diseases (IFDs) are life-threatening infections that require rapid diagnostic
Episcleritis as the first clinical manifestation of autoimmunity in patients with common variable immunodeficiency
Female, 10 years old, diagnosed with Inborn Error of Immunity Predominantly Antibodies,
