Stem-cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico.

Introduction: For many patients with primary immune deficiency (PID), stem-cell transplantation (SCT) may be life-saving.

Objective: To review our experience of 11 years transplanting children with PID in Mexico.

Methods: Chart review of patients who underwent SCT from 2008 to 2018, to describe their diagnoses, time to transplant, conditioning regime, survival rate and outcomes.

Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion.

Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse. DOCK8-deficient patients present early in life with eczema, viral cutaneous infections, chronic mucocutaneous candidiasis, bacterial pneumonia, and abscesses, together with eosinophilia, thrombocytosis, lymphopenia, and variable dysgammaglobulinemia that usually includes Hyper-IgE. In fact, before its genetic etiology was known, patients were described as having a form of Hyper-IgE syndrome, a name now deprecated in favor of genetic defects.

COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico.

Introduction: Patients with inborn errors of immunity (IEI) have a compromised or inappropriate immune response. Although they might be considered a high-risk group for severe SARS-CoV-2 infection, the reported impact of COVID-19 in these patients has been reassuring, while the differential susceptibility of distinct types of IEI remains unclear.

Objective: We aimed to describe the findings and outcomes of our known patients with IEI who were diagnosed with COVID-19.

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip dysplasia, and other skeletal malformations; as well as a severe combined immunodeficiency, radiosensitivity, and progressive bone marrow failure; or, they may present later in life with hematological neoplasias that respond catastrophically to chemo- and radiotherapy; or, they could be asymptomatic. We describe the clinical, laboratory, and genetic features of five Mexican patients with LIG4 deficiency, together with a review of 36 other patients available in PubMed Medline.

[Type and location of bronchiectasis in a cohort of adults with common variable immunodeficiency].

Background: Bronchiectasis are permanent dilatations of the bronchi. Its prevalence in patients with variable common immunodeficiency (CVID) is high, however there is little information regarding the type and location of the same; therefore the objective of this study is to know the type and location of bronchiectasis in a cohort of adult patients with CVID.

Methods: It has been made a transversal, observational and descriptive study that included 32 adult patients with diagnosis of CVID according to the criteria of the European Society of Immunodeficiencies (ESID).