John Barber

Journal article J Allergy Clin Immunol · July 2023 BACKGROUND: Severe congenital neutropenia presents with recurrent infections early in life as a result of arrested granulopoiesis. Multiple genetic defects are known to block granulocyte differentiation; however, a genetic cause remains unknown in approxim ... Full text Link to item Cite

Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects.

Journal article Cell Mol Immunol · January 2023 Calcium signaling is essential for lymphocyte activation, with genetic disruptions of store-operated calcium (Ca2+) entry resulting in severe immunodeficiency. The inositol 1,4,5-trisphosphate receptor (IP3R), a homo- or heterotetramer of the IP3R1-3 isofo ... Full text Link to item Cite

Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.

Journal article J Allergy Clin Immunol · November 2020 BACKGROUND: The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of patients. SEC61A1 encodes the α-subunit of the Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mu ... Full text Link to item Cite

Murine myeloproliferative disorder as a consequence of impaired collaboration between dendritic cells and CD4 T cells.

Journal article Blood · January 24, 2019 Dendritic cells (DCs) are a key cell type in the initiation of the adaptive immune response. Recently, an additional role for DCs in suppressing myeloproliferation was discovered. Myeloproliferative disorder (MPD) was observed in murine studies with consti ... Full text Link to item Cite

PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients.

Journal article J Exp Med · September 4, 2017 Patients with hypomorphic mutations in STAT3 and patients with hypermorphic mutations in STAT1 share several clinical and cellular phenotypes suggesting overlapping pathophysiologic mechanisms. We, therefore, examined cytokine signaling and CD4+ T cell dif ... Full text Link to item Cite

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Journal article N Engl J Med · March 6, 2014 BACKGROUND: We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because th ... Full text Link to item Cite

Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation.

Journal article J Allergy Clin Immunol · December 2013 BACKGROUND: Severe atopic conditions associated with elevated serum IgE are heterogeneous with few known causes. Nearly every patient with autosomal-dominant hyper-IgE syndrome (AD-HIES) due to signal transducer and activator of transcription 3 (STAT3) mut ... Full text Link to item Cite

Elevated IgE and atopy in patients treated for early-onset ADA-SCID.

Journal article J Allergy Clin Immunol · December 2013 Full text Link to item Cite

Peptide library-based evaluation of T-cell receptor breadth detects defects in global and regulatory activation in human immunologic diseases.

Journal article Proc Natl Acad Sci U S A · May 14, 2013 The ability of T-cells to respond to foreign antigens and to appropriately regulate this response is crucial for maintaining immune homeostasis. Using combinatorial peptide libraries, we functionally measured broad T-cell reactivity and observed impaired r ... Full text Link to item Cite