A rare case of long-term immune depletion in children following chemotherapy for acute leukemia: secondary or primary immunodeficiency?
Case presentation A 12-yo girl was diagnosed at the age of 3 […]
Diagnosis
Identification of the pathogenic variant rs201139487 (607 G>C) in ELANE gene among patients with severe congenital neutropenia
Introduction: Severe congenital neutropenias (SCN) are a heterogeneous group of rare hematological
A rare case of long-term immune depletion in children following chemotherapy for acute leukemia: secondary or primary immunodeficiency?
A 12-year-old girl was diagnosed at the age of 3 (2014) with
Pedigree relevance after the diagnostic of IL-12RB1 deficiency
Introduction IL-12RB1 deficiency is an inborn error of immunity (IEI), it is
Pedigree relevance after the diagnostic of IL-12RB1 deficiency 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 »
Inflammatory Bowel Disease and Inborn Errors of Immunity. Beyond the Acronym
Inflammatory bowel disease is an autoimmune disease with unclear etiology and characterized
Inflammatory Bowel Disease and Inborn Errors of Immunity. Beyond the Acronym Read More »
Deficiency of adenosine deaminase 2 (DADA2) presenting as myelodysplastic syndrome
INTRODUCTION Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder
Deficiency of adenosine deaminase 2 (DADA2) presenting as myelodysplastic syndrome Read More »
Infecciones de tejidos blandos de repetición como manifestación de inmunodeficiencia común variable
Introducción. La inmunodeficiencia común variable (IDCV) es un grupo heterogéneo de errores
Primary Immunodeficiencies. Updatereport of multi-project in Cuba.
Introduction: In Cuba, Primary Immunodeficiencies (PID) patients have been diagnosed since 1966.
Primary Immunodeficiencies. Updatereport of multi-project in Cuba. Read More »
