ABSTRACT
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels. In spite of therapeutic doses of antibiotics, antivirals, and antifungal agents, in addition to immunoglobulin replacement therapy, he developed disseminated involvement of both lungs with peripheral nodules; transbronchial lung biopsy revealed possible bronchiolitis obliterans organizing pneumonia (BOOP). Combined homozygosity mapping and exome sequencing identified a homozygous LRBA mutation in this patient (p.Asp248Glufs*2). Such clinical and immunological findings have not been described to date and illustrate the broad and variable clinical phenotype of human LRBA deficiency.
Subject(s)
Agammaglobulinemia/complications , B-Lymphocytes , Bronchiolitis Obliterans/genetics , Mutation/genetics , Pneumonia/etiology , Adaptor Proteins, Signal Transducing , Autoimmunity , Cryptogenic Organizing Pneumonia , Homozygote , Humans , Immunoglobulin M , Inflammatory Bowel Diseases , Male , PhenotypeABSTRACT
INTRODUCTION: Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in RAB27A gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis. MATERIALS AND METHODS: We describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5). CONCLUSION: This hot spot is flanked by "direct repeats" of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.
Subject(s)
Albinism/genetics , Immunologic Deficiency Syndromes/genetics , Sequence Deletion/genetics , rab GTP-Binding Proteins/genetics , Age of Onset , Albinism/physiopathology , Base Sequence , Child , Child, Preschool , DNA Mutational Analysis , Female , Humans , Immunologic Deficiency Syndromes/physiopathology , Infant , Male , Polymerase Chain Reaction , Syndrome , rab27 GTP-Binding ProteinsABSTRACT
There have been reports that refer to the personality of the patients with atopic dermatitis (AD) especially adult patients but there are few studies regarding the behavioral characteristics in AD infants. The aim of this study was to compare behavioral characteristics of 30 AD infants (3-12 months old) with 40 controls. The infants with the definite diagnosis of AD (according to Hanifin and Rajka criteria) referring to children medical center were included in this study. For assessing behavioral characteristics we used revised version of Infant Behavior Questionnaire for measuring 11 scales of behavioral characteristics (Fear, Perceptual Sensitivity, Distress to Limitations, Sadness, High Pleasure, Low pleasure, Approach, Rate of Recovery from Distress, Soothability, Smiling and Laugher, and Duration of Orienting). Questionnaires were filled out by the physicians with the cooperation of the parents. The AD group showed significantly higher scores in Perceptual Sensitivity, Soothability, and High Pleasure compared with control group (p = 0.000). In other characteristics no significant difference were noticed between atopic and non-patients. For eight characteristics, scores of atopic infants were similar healthy infants, but they tend to show more pleasure when subjected to an intense, novel or incongruity stimuli compared with healthy infants. Theoretically, higher scores in Perceptual Sensitivity, Soothability, and High Pleasure are concordant with the pervious studies about adrenomedullary system over activity.
