Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.

Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and susceptibility to malignancies. According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, SH2DIA, XIAP, CD27 (TNFRSF7), FAS (TNFRSF6), FASLG (TNFSF6), CASP10, CASP8, FADD, LRBA, STAT3, AIRE, ITCH, ZAP70, TPP2, JAK1, PEPD, FOXP3, IL2RA, CTLA4, BACH2, IL2RB, DEF6, FERMT1, IL10, IL10RA, IL10RB, NFAT5, TGFB1, and RIPK1 genes.

Psychosocial Evaluation of Adults with Primary Immunodeficiency.

Purpose: Primary immunodeficiency disorder (PID) is a heterogeneous group of diseases characterized by immune dysregulation and increased susceptibility to infections, with various cognitive, emotional, behavioral, and social effects on patients. This study aimed to evaluate loneliness, social adaptation, anxiety, and depression and to identify associated factors in adults with immunodeficiency.

Methods: A cross-sectional study in Turkey (Feb-Aug 2022) obtained sociodemographic data from patient records.

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.

Comparison of chest computed tomography and 3-T magnetic resonance imaging results in patients with common variable immunodeficiency.

Background: Patients with common variable immunodeficiency (CVID) have an increased incidence of pulmonary infections and require frequent follow-up computed tomography (CT) scans.

Purpose: To evaluate the diagnostic performance of 3-T magnetic resonance imaging (MRI) in patients with CVID.

Material And Methods: In this prospective study, 3-T MRI was performed in 20 patients with CVID.

Primary hypoparathyroidism in a patient with common variable immunodeficiency associated enteropathy.

Common variable immunodeficiency (CVID) is a rare disease characterized by humoral immunodeficiency, often causing sinopulmonary and gastrointestinal infections, and may cause enteropathy in some patients, which leads to severe malnutrition and electrolyte deficiencies. Although many autoimmune diseases are seen with increased frequency in CVID patients, primary hypoparathyroidism is extremely rare. A 50-year-old man with CVID presented with diarrhea.

Spectrum of Hepatic Manifestations of Common Variable Immunodeficiency.

Common variable immunodeficiency (CVID) has a heterogenous clinical presentation and can be challenging to diagnose. Distinct histologic changes have been linked with CVID in several organ systems, which can help identify the correct diagnosis. In this study we review a cohort of hepatic CVID biopsies, to better define the spectrum of histologic and biochemical alterations.

Gastrointestinal findings in 26 adults with common variable immunodeficiency: The fickle nature of the disease manifests in gastrointestinal biopsies.

Background/aims: The aim of the present study was to demonstrate the histopathological findings in gastrointestinal (GI) biopsies in adults with common variable immunodeficiency (CVID).

Materials And Methods: A total of 172 GI biopsies of 26 patients with CVID obtained over a 16-year period were reevaluated. Findings were analyzed using descriptive analyzes and χ2 test.

Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.

Background: The actin-interacting protein WD repeat-containing protein 1 (WDR1) promotes cofilin-dependent actin filament turnover. Biallelic WDR1 mutations have been identified recently in an immunodeficiency/autoinflammatory syndrome with aberrant morphology and function of myeloid cells.

Objective: Given the pleiotropic expression of WDR1, here we investigated to what extent it might control the lymphoid arm of the immune system in human subjects.

Misleading Allergens in the Diagnosis of Latex Allergy: Profilin and Cross-Reactive Carbohydrate Determinants.

Background: It has been suggested that latex-specific IgE analysis may lead to false-positive results, especially in patients with pollen allergy. In the present study, the reasons underlying clinically irrelevant latex-specific IgE positivity were investigated.

Methods: Thirty patients with latex allergy (group 1), 89 patients sensitised to aeroallergens (group 2a), and 98 healthy individuals without allergy (group 2b) were enrolled.

Incidence of Parasitic Diarrhea in Patients with Common Variable Immune Deficiency.

Objective: Parasites might cause atypical and severe infections in immunocompromised hosts. The prevalence of diarrhea among common variable immune deficiency (CVID) syndrome patients varies between 20% and 94%, which indicates that diarrhea and gastrointestinal system (GIS) complaints could be the second leading cause of morbidity in CVID patients after respiratory tract infections. This study aimed to assess the prevalence of intestinal parasites in CVID patients with GIS complaints and diarrhea.

β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.

Background: Most patients with MHC class I (MHC-I) deficiency carry genetic defects in transporter associated with antigen processing 1 (TAP1) or TAP2. The clinical presentation can vary, and about half of the patients have severe skin disease. Previously, one report described β2-microglobulin (β2m) deficiency as another monogenetic cause of MHC-I deficiency, but no further immunologic evaluation was performed.

Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency.

Background: Common variable immunodeficiency (CVID) is usually well controlled with immunoglobulin substitution and immunomodulatory drugs. A subgroup of patients has a complicated disease course with high mortality. For these patients, investigation of more invasive, potentially curative treatments, such as allogeneic hematopoietic stem cell transplantation (HSCT), is warranted.

Phagocytic and oxidative burst activity of neutrophils in patients with spinal cord injury.

Objective: To evaluate phagocytic activity and neutrophil oxidative burst functions in patients with spinal cord injury (SCI) because alterations in neutrophil metabolic activity can be one of the causes of immune mechanism damage contributing to repeated bacterial infections.

Design: A controlled and cross-sectional study.

Setting: Departments of physical medicine and rehabilitation and immunology.

Desensitization effect of preseasonal seven-injection allergoid immunotherapy with olive pollen on basophil activation: the efficacy of olive pollen-specific preseasonal allergoid immunotherapy on basophils.

Background: It has previously been demonstrated that subcutaneous immunotherapy with allergoids positively affects clinical and immunological parameters even after 7 preseasonal injections. However, its effect on basophil activation remains unclear. We investigated the effect of preseasonal allergoid immunotherapy on basophils and concomitantly assessed its clinical and immunological efficacy in olive pollen-monosensitized patients.

Diagnostic value of specific IgE analysis in latex allergy.

Background: The precision of the methods used to diagnose latex allergy is of great importance due to false-positive results. Neither the skin prick test (SPT) nor the latex-specific IgE assay has 100% diagnostic accuracy. We analysed the diagnostic value of latex-specific IgE by the first-ever concomitant use of the SPT and nasal provocation test (NPT).

The Turkish Hereditary Angioedema Pilot Study (TURHAPS): the first Turkish series of hereditary angioedema.

Background: No published data presently exist concerning hereditary angioedema (HAE) in Turkey. The aim of the study was to initiate a preliminary multicentric evaluation about HAE and to determine the genetic properties of Turkish patients.

Methods: Based on records drawn from four medical centers we identified a total of 70 subjects, belonging to 60 unrelated families, fulfilling clinical and laboratory criteria for diagnosis of HAE with C1 inhibitor deficiency.

Clinical and immunological analysis of 23 adult patients with common variable immunodeficiency.

Background: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia, defective antibody production, and recurrent upper and lower airway tract infections.

Objectives: To reveal the clinical heterogeneity of this condition, analyze the high frequency of respiratory and gastrointestinal complications despite satisfactory trough immunoglobulin (Ig) G levels, and determine the main difficulties in management and treatment.

Methods: We performed a retrospective analysis of 23 patients (13 male and 10 female) diagnosed with CVID between 2001 and 2008.

Food allergy due to olive.

We report the case of a 28-year-old man who presented palatal itching and genaralized urticaria following ingestion of olive 3 years after being diagnosed with olive pollinosis. The patient did not have a history of food allergy or urticaria. The results of skin prick tests with aeroallergens including latex were positive for house dust mite and olive pollen.

Granulomatous disease in common variable immunodeficiency.

Granulomatous disease occurs in 8-22% of patients with common variable immunodeficiency (CVID). We examined the clinical and immunologic information of all 37 of 455 (8.1%) CVID subjects with this complication.

The importance of nasal provocation test in the diagnosis of natural rubber latex allergy.

Background: Most studies regarding natural rubber latex (NRL) allergy have concentrated on the prevalence using skin prick test (SPT) and specific IgE assay. The objective of this study is to examine the target organ (skin, nasal mucosa) responses in patients with positive SPT to NRL using the nasal provocation test (NPT) and glove use test (GUT).

Methods: Four thousand four hundred and twenty patients presented to our polyclinic between July 2003 and January 2007 were evaluated.

Vitamin D deficiency in the absence of enteropathy in three cases with common variable immunodeficiency.

Background: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and a defect in antibody production. Herein we describe 3 patients diagnosed with CVID in whom vitamin D deficiency was detected in the absence of enteropathy.

Methods: Biochemical and immunological analysis, serum osteocalcin, parathyroid hormone, 25-OH vitamin D, 1,25(OH)(2) vitamin D, vitamin A, vitamin E, urinary calcium, and deoxypyridinoline measurements were carried out.

Prevalence of cypress pollen sensitization and its clinical importance in Izmir, Turkey, with cypress allergy assessed by nasal provocation.

Background And Objective: Pollens from the Cupressaceae family are considered important allergens in the Mediterranean area, though reports of the prevalence of allergic symptoms have ranged from 1.04% to 35.4%.

New onset egg allergy in an adult.

We report newly presenting systemic and local allergic reactions to egg in a 55-year-old woman. The patient did not have a history of egg allergy in childhood or occupational exposure to egg proteins; nor did she report any disease that is known to be related to food allergy. A skin prick test with commercial extracts, prick-to-prick test, CAP radioallergosorbent assay, and a double-blind, placebo-controlled food challenge test were used to prove egg allergy.