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Unmasking inborn errors of immunity: identifying the red flags of immune dysregulation.

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Pediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy.

Inborn errors of immunity (IEI) are rare diseases that affect the immune system. According to the latest International Union of Immunological Societies (IUIS) classification, 485 different IEI have been identified. Even if increased susceptibility to infections is the best-known symptom, IEI are no longer defined by the higher likelihood of infections alone.

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Background: Late gadolinium enhancement (LGE) has been found in patients with autoimmune rheumatic disease (ARD). However, the prognostic implications of some specific LGE patterns in ARD patients remain unclear.

Purpose: To investigate the prevalence and prognostic significance of left ventricular (LV) subendocardium-involved LGE (LGEse) in a cohort of ARD patients.

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A 70-year-old female underwent open reduction and internal fixation (ORIF) of her right ankle following a mechanical trip and fell two weeks before hospital admission. Two weeks following surgery, the patient experienced sudden-onset bilateral anterior thigh paresthesias and burning mid-back pain. Over the ensuing two days, the patient developed bilateral lower extremity weakness, bilateral lower extremity numbness, and urinary retention with constipation, which led to hospital presentation.

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Autoantibodies contribute to many autoimmune diseases, yet there is no approved therapy to neutralize them selectively. A popular mouse model, experimental autoimmune encephalomyelitis (EAE), could serve to develop such a therapy, provided we can better understand the nature and importance of the autoantibodies involved. Here we report the discovery of autoantibody-secreting extrafollicular plasmablasts in EAE induced with specific myelin oligodendrocyte glycoprotein (MOG) antigens.

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Unmasking Vitamin B12 Deficiency Misdiagnosed as Myelodysplastic Syndrome.

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Pancytopenia is characterized by a decrease in all three types of blood cells. Instead of being a standalone disease, it acts as a common outcome resulting from various factors, including infections, autoimmune disorders, genetic issues, nutritional deficiencies, and malignancies. Pinpointing the root cause of pancytopenia poses a challenge but is essential for devising an effective treatment plan and predicting the likely prognosis.

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