Approach to diagnosing and managing granulomatous-lymphocytic interstitial lung disease.

Granulomatous-lymphocytic interstitial lung disease (GLILD) is a lymphoproliferative and granulomatous pulmonary manifestation of primary immune deficiency diseases, notably common variable immunodeficiency (CVID), and is an important contributor of excess morbidity. As with all forms of ILD, the significance of utilizing a multidisciplinary team discussion to enhance diagnostic and treatment confidence of GLILD cannot be overstated. In this review, key clinical, radiological, and pathological features are integrated into a diagnostic algorithm to facilitate a consensus diagnosis.

Identification of a heterozygous pathogenic variant in IRAK4 in an adult patient with pneumococcal sepsis, monoclonal gammopathy of uncertain significance, and idiopathic systemic capillary leak syndrome.

IRAK-4 haploinsufficiency can present with pneumococcal sepsis and poor pneumococcal vaccine response in adults. Further research can determine the significance of unrecognized pathogenic variants in in adults presenting with pneumococcal sepsis and the utility of immunoglobulin replacement in these patients.

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.

Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator () gene. More recently, dominant-negative mutations within the PHD1, PHD2, and SAND domains have been associated with an incompletely penetrant milder phenotype with later onset familial clustering, often masquerading as organ-specific autoimmunity. Patients with immunodeficiencies or autoimmunity where genetic analyses revealed heterozygous mutations were included in the study and the dominant-negative effects of the mutations were functionally assessed .

Selective Immunoglobulin A Deficiency and the Microbiome.

Selective immunoglobulin A (IgA) deficiency (SIgAD) is the most common primary immunodeficiency disease with a prevalence of about 1:500 individuals. SIgAD is heterogeneous, though thought to be due to a defect in the differentiation of IgA-bearing B lymphocytes into IgA-secreting plasma cells which provide a first line of defense against bacterial and viral pathogens. Although SIgAD was for a long time considered asymptomatic, longitudinal studies have revealed that about 80% of patients are symptomatic and can present with a range of phenotypes including allergic disease, recurrent bacterial respiratory tract infections, gastrointestinal disorders, and autoimmune diseases.

What is in your pantry? Entomologic anaphylaxis.

The booklouse, Liposcelis bostrychophila, is a potent environmental allergen clinically associated with rhinoconjunctivitis and asthma. Despite its known infestation of grain products, anaphylaxis from ingestion of this organism has, to our knowledge, not been previously reported. We present the case of a 44-year-old woman who developed anaphylaxis to ingested oats and rice shown to be contaminated with L.

Landscape of Immune-Related Pneumonitis in Cancer Patients with Asthma Being Treated with Immune Checkpoint Blockade.

Introduction: Predicting the factors that increase the risk of immune-related pneumonitis, a potentially life-threatening complication of treatment with immune checkpoint inhibitors for cancer, is a clinical challenge. Baseline clinical factors such as asthma may portend the development of pneumonitis due to pre-existing airway inflammation prior to immunotherapy.

Objective: The purpose of the study was to investigate whether a prior diagnosis of asthma is associated with an increased risk of immune-related pneumonitis in patients undergoing cancer immunotherapy.

A 37-Year-Old Man With Pleuritic Chest Pain.

A 37-year-old man with poorly controlled type 2 diabetes presented with severe right-sided pleuritic chest pain, respiratory splinting, and cough. Two weeks earlier, he had been evaluated at an urgent care for cough and was prescribed a 5-day course of azithromycin for bronchitis. He then presented to our ED reporting mild, right-sided pleuritic chest pain.

Helios Deficiency Predisposes the Differentiation of CD4Foxp3 T Cells into Peripherally Derived Regulatory T Cells.

The transcription factor Helios is expressed in a large percentage of Foxp3 regulatory T (Treg) cells and is required for the maintenance of their suppressive phenotype, as mice with a selective deficiency of Helios in Treg cells spontaneously develop autoimmunity. However, mice with a deficiency of Helios in all T cells do not exhibit autoimmunity, despite the defect in the suppressor function of their Treg cell population, suggesting that Helios also functions in non-Treg cells. Although Helios is expressed in a small subset of CD4Foxp3 and CD8 T cells and its expression is upregulated upon T cell activation, its function in non-Treg cells remains unknown.