Genomes and Genes
Raif S Geha
Affiliation: Harvard University
- Günaydin N, Chou J, Karaca N, Aksu G, Massaad M, Azarsiz E, et al. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. Clin Immunol. 2014;153:288-91 pubmed publisher..This case highlights the variability in the clinical evolution and phenotype of CD40L deficiency. ..
- Galand C, Leyva Castillo J, Yoon J, Han A, Lee M, McKenzie A, et al. IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells. J Allergy Clin Immunol. 2016;138:1356-1366 pubmed publisher..IL-33 neutralization might be useful in treating food-induced anaphylaxis in patients with AD. ..
- Jabara H, Lee J, Janssen E, Ullas S, Liadaki K, Garibyan L, et al. Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice. J Allergy Clin Immunol. 2017;139:1293-1301.e4 pubmed publisher..These results suggest that TACI A181E heterozygosity results in TACI haploinsufficiency with increased susceptibility to pneumococcal infection. This has important implications for asymptomatic TACI A181E carriers. ..
- Abolhassani H, Chou J, Bainter W, Platt C, Tavassoli M, Momen T, et al. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018;141:1450-1458 pubmed publisher..The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients. ..
- Janssen E, Morbach H, Ullas S, Bannock J, Massad C, Menard L, et al. Dedicator of cytokinesis 8-deficient patients have aÂ breakdown in peripheral B-cell tolerance and defectiveÂ regulatory T cells. J Allergy Clin Immunol. 2014;134:1365-1374 pubmed publisher..Our data support a critical role for DOCK8 in Treg cell homeostasis and function and the enforcement of peripheral B-cell tolerance. ..
- Yoon J, Leyva Castillo J, Wang G, Galand C, Oyoshi M, Kumar L, et al. IL-23 induced in keratinocytes by endogenous TLR4 ligands polarizes dendritic cells to drive IL-22 responses to skin immunization. J Exp Med. 2016;213:2147-66 pubmed publisher..We also show that IL-23 is released in human skin after scratching and polarizes human skin DCs to drive an IL-22 response, supporting the utility of IL-23 and IL-22 blockade in AD. ..
- Platt C, Chou J, Houlihan P, Badran Y, Kumar L, Bainter W, et al. Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function. J Allergy Clin Immunol. 2017;140:1651-1659.e1 pubmed publisher..LRRC8A-dependent VRAC activity is dispensable for T-cell development and function. ..
- Petersheim D, Massaad M, Lee S, Scarselli A, Cancrini C, Moriya K, et al. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J Allergy Clin Immunol. 2018;141:1060-1073.e3 pubmed publisher..IκBα point mutants accumulate at higher levels compared with truncation mutants and are associated with more severe disease and greater impairment of canonical and noncanonical NF-κB activity in patients with AD EDA-ID. ..
- Platt C, Fried A, Hoyos Bachiloglu R, Usmani G, Schmidt B, Whangbo J, et al. Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Clin Immunol. 2017;183:142-144 pubmed publisher..The severity of the disease and the development of EBV lymphoma in both patients suggest that hematopoietic stem cell transplantation should be performed rapidly in patients with RASGRP1 deficiency. ..
- Massaad M, Oyoshi M, Kane J, Koduru S, Alcaide P, Nakamura F, et al. Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing. Mol Cell Biol. 2014;34:4343-54 pubmed publisher..Disruption of WIP binding to actin could be of therapeutic value in T cell-driven inflammatory diseases. ..
- Yee C, Massaad M, Bainter W, Ohsumi T, FÃ¶ger N, Chan A, et al. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol. 2016;137:879-88.e2 pubmed publisher..Our studies demonstrate the importance of intact CORO1AÂ C-terminal domains in thymic egress and T-cell survival, as well as in defense against viral pathogens. ..