Hematopoietic stem cell transplantation for primary immunodeficiency.

Primary immunodeficiencies, also commonly called inborn errors of immunity (IEI), are commonly due to developmental or functional defects in peripheral blood cells derived from hematopoietic stem cells. In light of this, for the past 50 years, hematopoietic stem cell transplantation (HSCT) has been used as a definitive therapy for IEI. The fields of both clinical immunology and transplantation medicine have had significant advances.

Proof-of-concept study evaluating humoral primary immunodeficiencies via CJ:KREC ratio and serum BAFF level.

Humoral primary immunodeficiencies are the most prevalent form of primary immunodeficiency (PID). Currently, there is no convenient method to quantify newly formed B cells. The aim of this proof-of-concept study was to quantitate the ratio of coding joints (CJs) to Kappa-deleting recombination excision circles (KRECs) and serum B cell activating factor (BAFF) in patients with humoral primary immunodeficiency and assess if they correlate with disease severity.

B Cell Lymphocytosis in Juvenile Dermatomyositis.

In this study, we determined if B lymphocytosis may serve as a JDM biomarker for disease activity. Children with untreated JDM were divided into two groups based on age-adjusted B cell percentage (determined through flow cytometry): 90 JDM in the normal B cell group and 45 in the high B cell group. We compared through -testing the age, sex, ethnicity, duration of untreated disease (DUD), disease activity scores for skin (sDAS), muscle (mDAS), total (tDAS), CMAS, and neopterin between these two groups.

Coding joint: kappa-deleting recombination excision circle ratio and B cell activating factor level: predicting juvenile dermatomyositis rituximab response, a proof-of-concept study.

Background: This pilot study's primary aim was to determine if oligoclonal B cell expansion in children with Juvenile Dermatomyositis (JDM) predicts response to Rituximab therapy. We evaluated: (1) tissue B cell depletion efficacy by measuring the ratio of Coding joint (CJ) to Kappa-deleting recombination excision circle (KREC) DNA, and (2) serum BAFF level upon B cell recovery.

Methods: CJ and KREC values were measured via qPCR assessment of serial PBMC stored (- 80 °C) in the CureJM Center's BioRepository.

Diurnal Variations in Skin Prick Testing.

Prior research suggests that skin prick testing (SPT) might be larger in the afternoon, with unclear clinical significance. This retrospective chart review analyzed SPT results from patients between June 2008 and June 2017, organized into 4 time groups for analysis (Group 1: 7:00 AM -10:29 AM, Group 2: 10:30 AM -11:59 AM, Group 3: 12:00 PM -2:29 PM, and Group 4: 2:30 PM -8:15 PM). In total, 12,982 () patient test results had positive histamine and were included in final analysis.

A Novel Mutation in WAS Gene Causing a Phenotypic Presentation of Wiskott-Aldrich Syndrome: A Case Report.

Background: Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by immunodeficiency, thrombocytopenia, and atopic dermatitis.

Observations: This infant presented at birth with petechiae and bruising, with severe neonatal thrombocytopenia. Genetic testing for WAS revealed a variant of unknown significance hemizygous missense mutation in the WAS gene.

testing for allergic and immunologic diseases.

In vitro tests are used to assist in the diagnosis of both allergic and immunologic diseases. Unfortunately, there is no single test that is pathognomonic for most allergic diseases. The most commonly ordered in vitro test by allergists is allergen specific IgE (sIgE), which is used to help diagnose IgE mediated hypersensitivity to foods, aeroallergens and venoms.

Food allergy: Diagnosis and treatment.

Immunoglobulin E-mediated food reactions usually develop within minutes of food ingestion. Although most reactions are not life-threatening, fatalities do occur. Risk factors for fatal food-induced anaphylaxis include the presence of asthma (a risk factor for anaphylaxis in general), failure to use epinephrine autoinjectors promptly, a history of severe reactions, known food allergy, denial of symptoms, and adolescent and young adult age.

Stinging insect allergy and venom immunotherapy.

The Hymenoptera order is divided into three families: Apidae, Vespidae, and Formicidae. Apidae include the honeybee, bumblebee, and sweat bee, which are all docile and tend to sting mostly on provocation. The Africanized killer bee, a product of interbreeding between the domestic and African honeybee, is very aggressive and is mostly found in Mexico, Central America, Arizona, and California.

Risk factors for Clostridioides (Clostridium) difficile infection following solid organ transplantation in children.

Background: Clostridioides (Clostridium) difficile infection (CDI) in pediatric solid organ transplant (SOT) recipients is a growing problem, though CDI risk factors in this population are poorly understood. Our objective was to characterize CDI risk factors in pediatric SOT recipients.

Methods: This retrospective case-control study, performed at a single freestanding academic children's hospital, included all SOT recipients age 1-22 years who were tested for C.

Lesion analysis of cortical regions associated with the comprehension of Nonreversible and Reversible yes/no questions.

We investigated the association between yes/no sentence comprehension and dysfunction in anterior and posterior left-hemisphere cortical regions in acute stroke patients. More specifically, we manipulated whether questions were Nonreversible (e.g.

Ischemia in broca area is associated with broca aphasia more reliably in acute than in chronic stroke.

Background And Purpose: We aimed to determine if ischemia involving Broca area predicts Broca aphasia more reliably in acute or chronic stroke.

Methods: We included consecutive right-hand-dominant patients with left hemisphere ischemic stroke (<48 hours from onset for acute stroke or >6 months after stroke for chronic stroke). MRI scans were analyzed for ischemic lesions or hypoperfusion in Broca area (Brodmann areas 44 and 45).