bims-actimu 2025-07-13 papers

Issue of 2025–07–13
four papers selected by
Elodie Busch, University of Strasbourg

J Allergy Clin Immunol. 2025 Jul 07. pii: S0091-6749(25)00740-7. [Epub ahead of print]

Allergic Manifestations of Actinopathies: A Review.

Candice N Gard, George E Freigeh, Erin M Janssen.

Actinopathies are conditions that impact the maturation and formation of actin filaments. When actinopathies affect immune cells, immune dysregulation leads to atopic disease, autoimmunity, autoinflammation, and increased infection. Many actinopathies, including Wiskott Aldrich Syndrome and DOCK8 deficiency, have prominent atopic manifestations. With emerging research and new clinical descriptions of patients diagnosed with actinopathies, the impact of actinopathies on allergic pathways has expanded. Furthermore, effective treatments related to atopy have been identified in specific patient groups. Here, we review the literature of these disorders and their allergic manifestations, describe current treatment options, and discuss how providers can differentiate actinopathies from general atopy.

Keywords: ARPC1B; CARMIL2; CDC42; DOCK8; Inborn Errors of Immunity; RAC2; STK4; Wiskott Aldrich Syndrome; actinopathies; atopy

DOI: https://doi.org/10.1016/j.jaci.2025.06.030

Case Reports Plast Surg Hand Surg. 2025 ;12(1): 2527095

Necrotizing fasciitis secondary to Wiskott-Aldrich Syndrome: a unique clinical presentation. Case report.

Jose Ignacio Fonseca-Sada, Roberto Martinez-Mejorada, Gabriel Garcia-Gonzalez, Luis Carlos Lozano-Carrillo, Rodolfo Alfredo Valdez-Velez, Mauricio Garcia-Perez, Everardo Valdes-Flores.

Wiskott-Aldrich Syndrome presents unique diagnostic and therapeutic challenges. Our case highlights a rare clinical complication associated with WAS and emphasizes the importance of prompt recognition and management. Dissemination of such rare presentations is crucial for enhancing clinical awareness and optimizing patient outcomes.

Keywords: Wiskott-Aldrich Syndrome; case report; loxosceles reclusa; necrotizing fasciitis

DOI: https://doi.org/10.1080/23320885.2025.2527095

Saudi J Anaesth. 2025 Jul-Sep;19(3):19(3): 413-415

Successful management of a pediatric cardiac patient with Bombay blood group and leukocyte adhesion deficiency type II: A case report and literature review.

Ahmad Abuzaid, Ahmed Abdalwahab.

Bombay blood group is a rare blood phenotype, frequently misinterpreted as "O" blood group, and sometime causes severe hemolytic transfusion reactions. We are reporting a 4-year-old cardiac patient with congenital heart disease. During routine intraoperative evaluation, the patient was confirmed as having Bombay blood group and leukocyte adhesion deficiency type II. As this condition is extremely rare in Saudi Arabia, matched blood donors were secured from outside the country. The patient underwent bilateral peripheral artery stenosis reconstruction. Successful intraoperative management was done using one unit of matched blood transfusion, acute normovolemic hemodilution strategy, intravenous injection of antifibrinolytic agents, and regular antimicrobial surgical prophylaxis. The postoperative period was uneventful, and the patient was discharged from the hospital 1 week later. Correct and preoperative identification of Bombay phenotype, patient labeling and flagging, maintaining records for rare blood groups, and collaborations with other blood banks are necessary strategies for safe management of patients with Bombay blood group.

Keywords: Blood transfusion; Bombay blood group; cardiac anesthesia; congenital heart disease; leukocyte adhesion deficiency; pediatric

DOI: https://doi.org/10.4103/sja.sja_605_24

JCI Insight. 2025 Jul 08. pii: e174235. [Epub ahead of print]

Hem1 controls T cell activation, memory, and the regulated release of immunosuppressive and proinflammatory cytokines.

Alexandra Christodoulou, Nutthakarn Suwankitwat, Jacob T Tietsort, Ryan Z Culbert, Julia Y Tsai, Fatima A Tarbal, Chengsong Zhu, Brian M Iritani.

Hematopoietic Protein-1 (Hem1) is a component of the WASP-family verprolin-homologous protein (WAVE) actin regulatory complex, which is activated downstream of multiple immune receptors. Mutations in the NCKAP1L gene encoding HEM1 have recently been found to result in severe Primary Immunodeficiency Disease (PID), characterized by recurrent respiratory infections, hyperinflammation, autoimmunity, and high mortality. However, how loss of Hem1 results in PID is unclear. To define the importance of Hem1 specifically in T cells, we generated constitutive and T cell specific Hem1 null mice. Hem1 deficient T cells exhibited an increased shift from naïve to memory T cells, and increased ratio of immunosuppressive regulatory to effector T cells. Loss of Hem1 resulted in hallmarks of T cell exhaustion including T cell lymphopenia, decreased activation and proliferation, increased expression of PD-1 and Tim3, and increased IL-10 production. In vitro TCR stimulation of CD4 T cells resulted in increased production of Th1 (IFN), Th2 (IL-5, IL-13), Th17 (IL-17, IL-22), and Treg (IL-10) cytokines. This correlated with reduced F-actin, increased expression of CD107a, and increased granzyme release indicative of increased granule membrane fusion and exocytosis. These results suggest that Hem-1 is critical for maintaining T cell activation, homeostasis and regulated cytokine production following antigen encounter.

Keywords: Adaptive immunity; Cytoskeleton; Immunology; Inflammation; T cells

DOI: https://doi.org/10.1172/jci.insight.174235