The effect of formula type on the prognosis of allergic proctocolitis due to cow's milk allergy.

Background: Food protein-induced allergic proctocolitis is a nonimmunoglobulin E-mediated, self-limited food allergy of the rectum and the colon. Cow's milk protein is the most common allergen responsible for the disease.

Objective: This study aimed to investigate the roles of different types of formulas in building early tolerance to food protein-induced allergic proctocolitis in infants.

Single Mutation Different Clinical Findings: IGLL1 Defect.

Agammaglobulinemia is a rare inherited immunodeficiency disorder characterized by low or absent B cells with absent immunoglobulins. While X-linked agammaglobulinemia (XLA) is the most common type other genetic forms of agammaglobulinemia have been identified. During early childhood, passively transferred maternal Immunoglobulin G protects against various infections.

Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant.

Agammaglobulinemia represents the most profound primary antibody deficiency, stemming from early cessation of B-cell development. Deficiency in folliculin-interacting protein 1 (FNIP1) is a novel inborn error of immunity characterized by a severe defect in B-cell development, agammaglobulinemia, variable neutropenia, and hypertrophic cardiomyopathy. FNIP1 plays a critical role in B-cell development and metabolic homeostasis, establishing a metabolic checkpoint that ensures pre-B cells possess sufficient metabolic capacity to undergo division while concurrently limiting lymphogenesis due to abnormal growth.

Life quality, depression, and anxiety levels in parents of children with primary immunodeficiency.

Background: Primary immune deficiencies (PID) encompasses genetic disorders that result in recurrent infections and immune dysregulation, often increasing the risk of malignancies. The aim of this study is to determine the quality of life, depression, and anxiety in parents of children with PID.

Methods: Various validated assessment tools, including the Beck Depression Inventory (BDI), State and Trait Anxiety Inventory (STAI), the 36-item Short Form Survey (SF-36), and a demographic form, were employed to gather data from 85 parents of 64 PID patients and 85 parents of 75 healthy children.

Risk factors predisposing children to food allergies.

Background: Food allergies are the most common cause of anaphylaxis in children, and their incidence is increasing globally. The aim of this study was to determine the risk factors leading to food allergies in childhood.

Methods: Children with food allergies and non-atopic healthy children were compared using a questionnaire that included prenatal, neonatal, and postnatal risk factors.

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.

In 15 Turkish LAD-1 patients and controls, we assessed the impact of pathogenic ITGB2 mutations on Th17/Treg differentiation and functions, and innate lymphoid cell (ILC) subsets. The percentage of peripheral blood Treg cells, in vitro-generated induced Tregs differentiated from naive CD4 T cells were decreased despite the elevated absolute counts of CD4 cells in LAD-1 patients. Serum IL-23 levels were elevated in LAD-1 patients.

The Effect of Serum Vitamin D Level on Allergic Rhinitis Symptoms in Children.

Allergic rhinitis (AR) is a chronic disease that is becoming increasingly common worldwide and has a negative impact on school performance, work performance, and quality of life. The aim of this study was to investigate the effect of vitamin D on the symptoms of AR in children. Serum vitamin D levels of children with AR and age-matched healthy controls were compared using the high-pressure liquid chromatography method.

A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I.

Leukocyte adhesion deficiency is an autosomal recessive primary immunodeficiency that has been divided into three types: LAD1 (beta-2 integrin (CD18) family deficiency/defect), LAD2 (absence of fucosylated carbonhydrate ligands for selectins) and LAD3 (defective activation of all beta integrins). However, recently LAD4 has been described in cystic fibrosis patients, with a defect in integrin activation reported in monocytes. LAD-I is the most common type and prevalence of 1 in 1,000,000 live births.

A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis.

Hyper-IgE syndrome (HIES) patients may share many features observed in severe atopic dermatitis (SAD), making a diagnostic dilemma for physicians. Determining clinical and laboratory markers that distinguish both disorders could provide early diagnosis and treatment. We analyzed patients (DOCK8 deficiency:14, STAT3-HIES:10, SAD:10) with early-onset SAD.

An examination of the relationship between regulatory T cells and symptom flare-ups in children and adolescents diagnosed with chronic tic disorder and Tourette syndrome.

Background: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by several motor and phonic tics.

Aims: In this study, we aimed to compare activated regulatory T cell (Treg) values between patients with TS/chronic tic disorder (CTD) and age- and sex-matched healthy controls (HCs).

Materials And Method: Patients with TS/CTD and age- and sex-matched HCs were included in the study.

Effects of modifying visual inhaler spacer usage instructions on correct usage rate of untrained users.

Background: Pressurized metered-dose inhalers (pMDIs) used with spacers are considered the method of choice for delivery of inhaled drugs in preschool-age children. The aim of this study was to determine the effects of modifying the visual inhaler spacer usage guidelines on the correct usage rate.

Methods: The parents and caregivers of patients <6 years old who were prescribed inhalers with spacers for the first time were included in our study.

Characteristics of persistent diaper dermatitis in children with food allergy.

Background/objectives: Diaper dermatitis is often caused by irritant contact occurring beneath the diaper of an infant, and it is aggravated by factors such as dampness, friction, urea, and feces. Food-allergic patients are known to exhibit various skin lesions ranging from urticaria to eczema. This study aims to determine the relationship between persistent diaper dermatitis and food allergy.

Independent predictive factors for the persistence and tolerance of cow's milk allergy.

Background: Cow's milk protein allergy (CMPA) is usually transient, with most children tolerating ingested cow's milk by 3 years of age. This study aimed to determine factors that promote or hindering the development of tolerance to CMPA.

Methods: A logistic regression model was used to determine independent risk factors associated with tolerance and persistence of CMPA.

Cyclic manner of neutropenia in a patient with mutation.

Severe congenital neutropenia (SCN) includes a group of genetic disorders which cause to arrest of neutrophil maturation. SCN can be associated with heterogenous group of genetic defects in , , , , , or activating mutations in the Wiskott-Aldrich syndrome (WAS) gene. Here we report a patient who has a HAX1 mutation presented with cyclic manner.

A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.

Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility.

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Patients in the Black Sea Region of Turkey.

Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation.

Evaluation of olfactory function in children with allergic rhinitis and nonallergic rhinitis.

Objectives: Allergic rhinitis (AR) occurs when the symptoms of rhinitis arise as a result of allergen-induced nasal mucosal inflammation. In the presence of rhinitis symptoms without infection or an allergic reaction in the nose, non-allergic rhinitis (NAR) is considered. Adults with these diseases have increased frequency of olfactory dysfunction.

The value of the clinical history for the diagnosis of immediate nonsteroidal anti-inflammatory drug hypersensitivity and safe alternative drugs in children.

Background: Diagnosing hypersensitivity reactions that develop as a result of nonsteroidal anti-inflammatory drugs (NSAID) with a history is mostly misleading, and skin tests and/or provocation tests are needed for a definitive diagnosis.

Objective: To determine the frequency of actual NSAID hypersensitivity and whether there are any parameters in the history to predict NSAID hypersensitivity. In addition, to determine safe alternative drugs for children who are diagnosed with actual NSAID hypersensitivity.

Assessment of skills using a spacer device for a metered-dose inhaler and related independent predictive factors in caregivers of asthmatic preschool children.

Background: The correct use of inhalation devices is essential for successful therapy. We aimed to evaluate the skills in the use of a spacer device with an metered-dose inhaler (MDI) and factors that influence this skill in asthmatic preschool children's caregivers.

Methods: The caregivers of 12-month-old to 72-month-old children were interviewed face-to-face and filled out questionnaires.