A Novel Homozygous Variant in JAK3 in a Patient with Severe Combined Immunodeficiency (SCID) with T-B+NK- Phenotype and Persistent Covid-19.
Introduction: Severe combined immunodeficiency (SCID) is a condition in which defects in […]
Introduction: Severe combined immunodeficiency (SCID) is a condition in which defects in […]
A 12-year-old girl was diagnosed at the age of 3 (2014) with
Introducción Inmunodeficiencia común variable (CVID) es la inmunodeficiencia primaria humoral sintomática más
Female, 10 years old, diagnosed with Inborn Error of Immunity Predominantly Antibodies,
INTRODUCTION: Proteasome Associated Autoinflammatory Syndromes (PRAAS) are a heterogeneous group of interferonopathies
INTRODUCTION: Hereditary Angioedema (HA), is an autosomal dominant disease caused by the
CASE REPORT OF TYPE 1 HEREDITARY ANGIOEDEMA Read More »
Introduction: A patient with TNRT1 defect with COVID-19 infection, was treated with
COVID-19 IN A PATIENT WITH TNTR1 DEFECT TREATED WITH NIRMATRELVIR/RITONAVIR. Read More »
INTRODUCTION Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder
Deficiency of adenosine deaminase 2 (DADA2) presenting as myelodysplastic syndrome Read More »
Introduction: We present the case of a patient with GATA 2 Deficiency
OTHER USES IMMUNOGLOBULIN INTRAVENOUS IN PATIENT WHIT GATA 2 DEFFICIENCY Read More »
Introduction Selective IgA deficiency is the most common primary selective immunodeficiency, defined
DEFICIENCIA SELECTIVA DE IGA: SERIE DE CASOS Read More »