Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.

Background: LPS-responsive beige-like anchor (LRBA) deficiency (LRBA) and cytotoxic T-lymphocyte-associated antigen-4 (CTLA4) insufficiency (CTLA4) are mechanistically overlapped diseases presenting with recurrent infections and autoimmunity. The effectiveness of different treatment regimens remains unknown.

Objective: Our aim was to determine the comparative efficacy and long-term outcome of therapy with immunosuppressants, CTLA4-immunoglobulin (abatacept), and hematopoietic stem cell transplantation (HSCT) in a single-country multicenter cohort of 98 patients with a 5-year median follow-up.

Incidental pulmonary nodules in children: characteristic features and clinical course.

Background: There exists insufficient information about the natural course of incidental pulmonary nodules (IPN) determined on tomography in children. The aim was to determine the characteristic features and factors affecting the course of IPN.

Methods: This retrospective study included patients who presented at the Pediatric Pulmonology, Allergy & Immunology Section of Akdeniz University Hospital between January 2014-2020, and were determined with pulmonary nodules on high-resolution computed tomography (HRCT).

Specific Granule Deficiency Due To Novel Homozygote Variant.

Specific granule deficiency (SGD) is a rare immunodeficiency associated with gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature.

Psychological State of Parents of Children with Primary Immunodeficiencies During the COVID-19 Pandemic.

COVID-19 has affected humanity not only physically but also mentally. It was expected to have impact on high-risk groups such as the immunocompromised patients and parents/caregivers of them. Our study was aimed to investigate the COVID-19 related anxiety, post-traumatic stress levels, and sleep-related parameters of the parents of children with primary immunodeficiency.

Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children.

Objective: To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children.

Material And Methods: This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.

Role of the Th1 and Th17 Pathway in Subacute Sclerosing Panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a progressive and fatal disease caused by reactivation of a mutated measles virus in brain tissue. The process of reactivation is yet to be elucidated. In this study, the possible roles of the Th1 (interleukin [IL]-12, interferon [IFN]-γ) and the Th17 axis (IL-23, IL-17, IL-22), particularly of IL-17, in the pathogenesis of SSPE were investigated.

An evaluation of banana allergy in children living in the Mediterranean region.

Background/aim: We aimed to apply a double-blind placebo-controlled food challenge (DBPCFC) test to patients who reported a reaction to banana and showed positivity for banana-specific IgE in Turkey. Materials and methods: Medical data of patients who had been analyzed for banana allergy were reviewed, focusing on banana-specific IgE positivity at the Department of Pediatric Allergy-Immunology at the Akdeniz University Faculty of Medicine between the years 2004 and 2012. Patients were called to the clinic for a DBPCFC test.

Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement?

Mutations in interleukin-10 and its receptors cause infantile inflammatory bowel disease (IBD), a hyperinflammatory disorder characterized by severe, treatment-refractory colitis, multiple abscesses, and enterocutaneous fistulas. Patients with infantile IBD often require several surgical interventions, including complete colectomy, and hematopoietic stem cell transplantation is currently the only known medical therapy. Traditionally, operative management has been preferred before stem cell transplantation because of the latter's increased susceptibility to procedural complications; however, surgical intervention could be delayed, and possibly reconsidered, because our 2 patients with infantile IBD demonstrated a rapid response to treatment via engraftment.

Immune Reconstitution Inflammatory Syndrome After DLI in a SCID Patient After Hematopoetic Stem Cell Transplantation.

Immune reconstitution inflammatory syndrome (IRIS) is a clinical condition emerging after immune recovery of an immunocompromised status, mostly in human immunodeficiency virus infected patients but also in several other settings, such as the recovery from the severe combined immunodeficiency status after hematopoietic stem cell transplantation. Herein, we report a patient transplanted for severe combined immunodeficiency who developed IRIS for 2 times, namely shortly after transplantation and after donor lymphocyte infusion. Pediatric transplant teams need to be aware of the previous IRIS phenomenon of BCG-adenitis while making the decision of donor lymphocyte infusions.

In vitro interferon γ improves the oxidative burst activity of neutrophils in patients with chronic granulomatous disease with a subtype of gp91phox deficiency.

Aim Of This Study: Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency caused by a defect in phagocyte production of oxygen metabolites, and resulting in infections produced by catalase-positive microorganisms and fungi. Interferon γ (IFN-γ) has a multitude of effects on the immune system. Although preliminary studies with CGD patients on treatment with IFN-γ showed that it enhanced phagocytosis and superoxide production, ongoing studies did not reveal a significant increase of this function.

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

Background: Inherited deficiencies of IL-10 or IL-10 receptor (IL-10R) lead to immune dysregulation with life-threatening early-onset enterocolitis.

Objectives: We sought to gather clinical data of IL-10/IL-10R-deficient patients and devise guidelines for diagnosis and management, including hematopoietic stem cell transplantation (HSCT).

Methods: We enrolled 40 patients with early-onset enterocolitis and screened for mutations in IL10/IL10R using genetic studies, functional studies, or both of the IL-10 signaling pathway.

Cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis in a child with interleukin-12 receptor beta-1 deficiency.

Defects in the interleukin 12 (IL-12)/interferon gamma (IFN-γ) pathway result in Mendelian susceptibility to mycobacterial disease (MSMD). IL-12 receptor beta 1 (IL-12Rβ1) deficiency, the most common form of MSMD, is associated with weakly virulent mycobacteria and salmonella. Infections in patients with this deficiency are extraintestinal, or septicemic, recurrent infections with nontyphoid salmonellae.