Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent.

Chronic granulomatous disease (CGD) is a phagocytic disorder characterized by a defective production of reactive oxygen species (ROSs). Although infections and granuloma formation are the most common manifestations in CGD patients, a significant number of patients experienced autoimmunity and inflammatory diseases suggesting that adaptive immune abnormalities might be involved. Here we investigated T-cell compartment and showed that CGD patients had a skewed TCRV-beta distribution in CD8+ T cells, particularly in older patients, and a reduced proliferative responses toward mitogens compared to healthy donors (HD).

Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience.

Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency of phagocytes, characterized by life-threatening infections and hyperinflammation. Due to survival improvement, inflammatory bowel disease (IBD) is becoming increasingly relevant. Here, we report our 20 year experience.

Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.

Recombination-activating gene (RAG) 1 and 2 mutations in humans cause T B NK SCID and Omenn syndrome, but milder phenotypes associated with residual protein activity have been recently described. We report a male patient with a diagnosis of common variable immunodeficiency (CVID) born from non-consanguineous parents, whose immunological phenotype was characterized by severe reduction of B cells and agammaglobulinemia for which several candidate genes were excluded by targeted Sanger sequencing. Next Generation Sequencing revealed two compound heterozygous mutations in the RAG1 gene: the previously described p.

Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin.

Ataxia-Telangiectasia is a rare multisystem autosomal recessive disorder [OMIM 208900], caused by mutations in Ataxia-Telangiectasia Mutated gene. It is characterized by neurological, immunological and cutaneous involvement. Granulomas have been previously reported in Ataxia-Telangiectasia patients, even if acne rosacea has not been described.

How should eosinophilic cystitis be treated in patients with chronic granulomatous disease?

Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting from the absence or malfunction of oxidative mechanism in phagocytic cells. The disease is due to a mutation in one of four genes that encode subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Affected patients experience severe infections and granuloma formation due to exuberant inflammatory responses.

Differential diagnosis of food protein-induced enterocolitis syndrome.

Purpose Of Review: To assess all the possible differential diagnosis of food protein-induced enterocolitis syndrome (FPIES), both in acute and chronic presentation, reviewing the data reported in published studies.

Recent Findings: There is an increase of reported cases of FPIES in recent years. As the disease presents with nonspecific symptoms, it can be misunderstood in many ways.

Chronic granulomatous disease presenting with salmonella brain abscesses.

Chronic granulomatous disease is a rare primary immunodeficiency caused by phagocytic cell defect. We describe the case of 43-month-old boy with chronic granulomatous disease presenting with Salmonella spp brain abscesses, together with a review of the 13 cases reported in the literature.