Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with mutations.

Studies of the monogenic autoimmune disease immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) have elucidated the essential function of the transcription factor FOXP3 and thymic-derived regulatory T cells (T) in controlling peripheral tolerance. However, the presence and the source of autoreactive T cells in IPEX remain undetermined. Here, we investigated how FOXP3 deficiency affects the T cell receptor (TCR) repertoire and T stability in vivo and compared T cell abnormalities in patients with IPEX with those in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).

Severe food allergy reactions are associated with α-tryptase.

Background: Increased TPSAB1 copy numbers encoding ⍺-tryptase are associated with severe reactions in adults with Hymenoptera venom allergy, systemic mastocytosis, and idiopathic anaphylaxis.

Objective: The primary objective was to assess the association between ⍺-tryptase and severity of food allergy.

Methods: A total of 119 subjects underwent tryptase genotyping; 82 of them were from an observational food allergy cohort at the National Institute of Allergy and Infectious Disease (NIAID), and 37 were from a cohort of children who reacted to peanut oral food challenge (OFC) at Lurie Children's Hospital of Chicago.

Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency.

Mutations in the ARPC1B isoform component of human actin-related protein 2/3 complex have been recently associated with an inborn error of immunity characterized by combined immunodeficiency, allergies, autoinflammation, and platelet abnormalities. Currently, indications on the management of this novel disease and information on its outcome are lacking. We report the first case series of 7 children with a homozygous mutation in ARPC1B gene who underwent allogeneic-HSCT (allo-HSCT).

Real world use of peanut component testing among children in the Chicago metropolitan area.

Peanut component tests (PCT) have become important in the evaluation of peanut allergy. There remains a paucity of research across the United States in investigating the utility of PCT in clinical practice in conjunction with current standards of care. The primary aims were to evaluate the performance and sensitization patterns of PCT in clinical practice when first available at our institution.

Exploration of parent-reported food allergy symptoms via breastmilk exposures and likelihood to develop tolerance.

Background: Knowledge is limited about the relationship between clinical reactivity to foods through breastfeeding and long-term food allergy outcomes. We explored parent-perceived symptoms of food allergy via breastfeeding and the association with future tolerance.

Methods: Subjects identified from the Chicago Food Allergy Study (2005-2011) were categorized by parent-reported reactions to maternally ingested foods via breastfeeding (50/898 peanut-allergic, 69/620 egg-allergic, and 153/589 milk-allergic).

Involving Minors in Medical Decision Making: Understanding Ethical Issues in Assent and Refusal of Care by Minors.

When caring for minors, the clinician-patient relationship becomes more ethically complex by the inclusion of parents in the clinician-parent-patient triad. As they age, children become more capable of participating in the decision-making process. This involvement may lead them to either accept or refuse proposed care, both of which are ethically acceptable positions when the minor's capacity to participate in decision making is carefully considered in the context of their age, development, and overall health.

Iron Deficiency without Anemia: A Common Yet Under-Recognized Diagnosis in Young Women with Heavy Menstrual Bleeding.

Study Objective: To assess the proportion of iron deficiency that is not detected with a screening hemoglobin or complete blood count (CBC) alone in young women with heavy menstrual bleeding.

Design: Retrospective review of electronic medical records.

Setting: Nationwide Children's Hospital in Columbus, Ohio.