Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.

Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control autoimmune disorders or autoimmunity associated with infection predisposition. We identified the genetic variants that were compatible with the patients' phenotype in 54% of the patients. Autoimmune diseases are often caused by a combination of genetic factors, but cases that appear at a young age are resistant to treatment or occur in clusters, as well as the presence of autoimmune symptoms alongside infectious diseases should raise suspicion for an underlying inborn error of immunity.

Bronchopulmonary infection by Lophomonas blattarum in a pediatric patient after hematopoietic progenitor cell transplantation: first report in Mexico.

Lophomonas blattarum is a multiflagellated protozoon which parasitizes the gut of termites and cockroaches. Although L. blattarum infection is rare, it can affect lung, maxillary sinuses and genitourinary tract. The presentation of bronchopulmonary lophomonas includes nonspecific symptoms such as fever, cough and dyspnea. Diagnosis is based on identification of living protozoan forms in fresh samples from respiratory secretions (bronchoalveolar lavage). We report the case of a 2-year-old male with a history of severe combined immunodeficiency (T-, B-, NK-), post-hematopoietic stem cell transplant and full immune reconstitution 12 months following a successful transplant who thereafter presented lophomonas.