July 2025
A curated list of high-quality articles in IEI
1: Cabrera-Martinez B, Garcia-Perez JE, Baxter RM, Lui VG, Ghosh T, Eken A, Kostka-Newman Z, Garcia JRM, Rahkola J, Gessner RL, Dutmer CM, Klarquist J, Pietras EM, Ghosh D, Johnson SA, Kedl RM, Hsieh EWY. A hypomorphic Il2rb mutant mouse model recapitulates and reveals mechanisms of human T cell immune dysregulation in IL-2Rβ deficiency. Cell Rep. 2025 Jun 25;44(7):115902. doi: 10.1016/j.celrep.2025.115902. Epub ahead of print. PMID: 40570369.
2: Veronica B, Benetti E, Minici C, Jasmin M, Segala F, Lanzillotta M, Colavito D, Della-Torre E. Association of IgG4-related disease with human inborn errors of immunity. Rheumatology (Oxford). 2025 Jun 26:keaf353. doi: 10.1093/rheumatology/keaf353. Epub ahead of print. PMID: 40569058.
3: Sagar, Ehl S. γδ T Cells and Inborn Errors of Immunity. Eur J Immunol. 2025 Jun;55(6):e51457. doi: 10.1002/eji.202451457. PMID: 40556329; PMCID: PMC12188109.
4: Stine L, Cahill S, Humphries F. Interferons in human inborn errors of disease. mBio. 2025 Jun 24:e0157025. doi: 10.1128/mbio.01570-25. Epub ahead of print. PMID: 40552831.
5: Walsh ZH, Frangieh CJ, Kothapalli N, Levy J, Heck CK, Melms JC, Gejman RS, Shah P, Pollard JM, Naik A, Grauman SL, Huang LH, Lee A, Bogunovic D, Milner JD, Izar B. Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment. Cell. 2025 Jun 19:S0092-8674(25)00624-5. doi: 10.1016/j.cell.2025.05.037. Epub ahead of print. PMID: 40543502.
6: Sharma S, Basu S, Goyal T, Sharma M, Barman P, Kaur G, Shandilya JK, Vignesh P, Pilania RK, Jindal AK, Dhaliwal M, Bhatia P, Sreedharanunni S, Rastogi P, Mallik N, Sharma P, Kaur A, Suri D, Rawat A, Singh S. Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review. J Clin Immunol. 2025 Jun 19;45(1):108. doi: 10.1007/s10875-025-01895-x. PMID: 40536602; PMCID: PMC12178966.
7: Roque-Pereira L, Sisay MM, Ogar CK, Durán CE, van Puijenbroek E, Weibel D, Verhamme K, Sturkenboom M. Comparison of Adverse Events in Pregnant Persons Receiving COVID-19 and Influenza Vaccines: A Disproportionality Analysis Using Combined Data from US VAERS and EudraVigilance Spontaneous Report Databases. Drug Saf. 2025 Jun 10. doi: 10.1007/s40264-025-01561-6. Epub ahead of print. PMID: 40495022.
8: Do Carmo AP, Battle AR, Fragnan NTML, Machado CAS, Constantino-Silva RN, Henrickson SE, Grumach AS. Targeting Complex Cutaneous Viral Infections in Search of Inborn Errors of Immunity. Acta Derm Venereol. 2025 Jun 9;105:adv41318. doi: 10.2340/actadv.v105.41318. PMID: 40488587; PMCID: PMC12171738.
9: Demenego G, Mancinelli S, Borreca A, Proce RO, Aragona V, Miotto M, Cremonesi M, Zucchelli L, Corradini I, Kim E, Ilic K, Fraviga E, Pellegrino L, Badolato R, Rusconi R, Pozzi D, Kallikourdis M, Cash D, Matteoli M, Lodato S. Neurodevelopmental origins of structural and psychomotor defects in CXCR4-linked primary immunodeficiency. Neuron. 2025 Jun 4:S0896-6273(25)00363-0. doi: 10.1016/j.neuron.2025.05.016. Epub ahead of print. PMID: 40482638.
10: Xie T, Xu N, Zhao H, Han Y, Wu J, Di H, Peng M, Zhang T, Fan H, Zhang Y, Zeng X. Pulmonary features and stage of disease in adult patients with hyper-IgE syndrome: a single-centre clinical study and literature review. Orphanet J Rare Dis. 2025 Jun 3;20(1):270. doi: 10.1186/s13023-025-03749-6. PMID: 40462219; PMCID: PMC12131643.
11: Pereda J, Espinosa R, García-Solís B, Guerra-Galán T, Van-Den-Rym A, Kars ME, Mena R, Galán V, de Andrés-Martín A, Rodríguez-Gallego C, López-Lera A, Corvillo F, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Martínez- Barricarte R, Quintana-Murci L, Lorenzo-Salazar JM, Itan Y, Flores C, Pérez-de- Diego R. IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients. NAR Genom Bioinform. 2025 May 28;7(2):lqaf069. doi: 10.1093/nargab/lqaf069. PMID: 40438610; PMCID: PMC12117399.
12: Gowda M, Gupta A, Shreyanka HV, Avardal T, Aishwarya TP, Murugesan A, Khare C. Evaluation of Non-Immune Fetal Hydrops in Resource Poor Country: Challenges Faced in Ascertaining the Etiology. Prenat Diagn. 2025 Jun;45(7):939-950. doi: 10.1002/pd.6813. Epub 2025 May 8. PMID: 40344244.
13: Triaille C, Terrier B, Hadchouel A, Haddad E, Vaglio A, Frémond ML. The emerging concept of ANCA-associated vasculitis related to inborn errors of immunity. Autoimmun Rev. 2025 Jun 24;24(7):103824. doi: 10.1016/j.autrev.2025.103824. Epub 2025 Apr 26. PMID: 40294837.
14: Hajialigol A, Azizi G, Seifi Alan M, Soltani A, Arabian Z, Tamiji M, Tsilifis C, Gennery AR, Jamee M. Dominant-Negative Versus Gain-of-Function STAT3 Defects: A Systematic Review on Epidemiological, Clinical, Immunological, and Molecular Aspects. J Allergy Clin Immunol Pract. 2025 Jun;13(6):1440-1448.e4. doi: 10.1016/j.jaip.2025.04.014. Epub 2025 Apr 15. PMID: 40246075.
15: Noma K, Asano T, Taniguchi M, Ashihara K, Okada S. Anti-cytokine autoantibodies in human susceptibility to infectious diseases: insights from Inborn errors of immunity. Immunol Med. 2025 Jun;48(2):124-140. doi: 10.1080/25785826.2025.2488553. Epub 2025 Apr 8. PMID: 40197228.
16: Rider NL, Bastarache L, Anderson JT, Behrens EM, Chaimowitz N, Chandrakasan S, Hartline B, Liu A, Marsh RA, Connelly JA. Expert-Based, Institutional Approaches for Reducing the Diagnostic Odyssey of Patients With Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2025 Jun;13(6):1317-1324. doi: 10.1016/j.jaip.2025.03.040. Epub 2025 Apr 3. PMID: 40187490.
17: Fekrvand S, Saleki K, Abolhassani H, Almasi-Hashiani A, Hakimelahi A, Zargarzadeh N, Yekaninejad MS, Rezaei N. COVID-19 infection in inborn errors of immunity and their phenocopies: a systematic review and meta-analysis. Infect Dis (Lond). 2025 Jun;57(6):483-517. doi: 10.1080/23744235.2025.2483339. Epub 2025 Apr 3. PMID: 40178994.
18: Udemgba C, Pillay B, Shafer S, Alberstadt A, Abers M, Gilliaux O, Chen K, Rae W, Hanitsch L, Von Bernuth H, Neves JF, Raje N, Moens L, van Hagen PM, Bergerson J, Hartog N, Niehues T, Dückers G, Falcone E, Keller M, Hsu A, Meyts I, Holland SM. IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation. J Allergy Clin Immunol. 2025 Jun;155(6):2052-2062.e5. doi: 10.1016/j.jaci.2025.02.038. Epub 2025 Mar 14. PMID: 40090425.
19: Wijeyesinghe S, Chinen J. Gene therapy for inborn errors of immunity: Current clinical progress. Ann Allergy Asthma Immunol. 2025 Jun;134(6):630-638. doi: 10.1016/j.anai.2025.02.026. Epub 2025 Mar 8. PMID: 40058525.
20: Hadjadj J, Wolfers A, Borisov O, Hazard D, Leahy R, Jeanpierre M, Belot A, Bakhtiar S, Hauck F, Lee PY, Volpi S, Palmeri S, Barlogis V, Aladjidi N, Ebetsberger-Dachs G, Avouac J, Charbit-Henrion F, Cheminant M, Donadieu J, Ghosh S, Hoytema van Konijnenburg DP, Körholz J, Bustamante J, Rosain J, Forbes Satter L, Selmeryd I, Sogkas G, Neven B, Rieux-Laucat F, Ehl S; SOCS1 Study Group. Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study. Lancet Rheumatol. 2025 Jun;7(6):e391-e402. doi: 10.1016/S2665-9913(24)00348-5. Epub 2025 Feb 27. Erratum in: Lancet Rheumatol. 2025 May;7(5):e311. doi: 10.1016/S2665-9913(25)00096-7. PMID: 40024253.
21: Vaseghi-Shanjani M, Samra S, Yousefi P, Biggs CM, Turvey SE. Primary atopic disorders: inborn errors of immunity causing severe allergic disease. Curr Opin Immunol. 2025 Jun;94:102538. doi: 10.1016/j.coi.2025.102538. Epub 2025 Feb 27. PMID: 40020536.
22: Hiensch F, Dupré L, Salzer E. Immunoactinopathies revisited: understanding clinical manifestations and biological pathways. Blood. 2025 Jun 5;145(23):2709-2732. doi: 10.1182/blood.2024026763. PMID: 39970325.
23: Paulo-Pedro M, Moleirinho B, Santos DF, Gomes AMC, Rei M, Almeida ARM, Marques JG, Silva SL, Sousa AE. Adulthood outcomes of thymic transplantation in a case of congenital athymia due to FOXN1 mutation. J Allergy Clin Immunol. 2025 Jun;155(6):1813-1820.e6. doi: 10.1016/j.jaci.2025.02.006. Epub 2025 Feb 14. PMID: 39956280.
24: Su Z, Lan J, Wang Y, Ma N, Yang J, Liang D, Zeng H, Yang M. Lactylation- driven ALKBH5 diminishes macrophage NLRP3 inflammasome activation in patients with G6PT deficiency. J Allergy Clin Immunol. 2025 Jun;155(6):1783-1799.e8. doi: 10.1016/j.jaci.2025.01.028. Epub 2025 Feb 1. PMID: 39900266.
25: Tahuil MN, Bouso C, Llarens A, Urdinez L, Gómez Raccio A, Di Giovanni D, Spossito L, Galicchio M, Liberatore D, Skrie VC, Orellana JC, Nievas E, Tarquini L, Regairaz L, Triguy J, Peña S, Ballester MC, Labonia D, Pérez G, Tolin AL, Villa M, Cabanillas D. Recomendaciones para la inmunización de pacientes con errores innatos de la inmunidad [Recommendations about immunizations in patients with inborn errors of immunity]. Arch Argent Pediatr. 2025 Jun 1;123(3):e202310308. Spanish. doi: 10.5546/aap.2023-10308. PMID: 39178179.
Articles on IEI originating from India
1: Sharma S, Basu S, Goyal T, Sharma M, Barman P, Kaur G, S et al Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review. J Clin Immunol. 2025 Jun 19;45(1):108. doi: 10.1007/s10875-025-01895-x.
2: Ahammed J, Reddy M, Konda D, Sharma M, Rawat A, Samprathi M. Immunodeficiency or Autoimmunity? - Unravelling the Mystery. Indian J Pediatr. 2025 Jun 8. doi: 10.1007/s12098-025-05608-5. Epub ahead of print. PMID: 40483341.
Information and links to significant upcoming International and National IEI meetings
1: Primary immunodeficiency congress Nov 5-7, 2025 https://www.immunology.org/events/international-primary-immunodeficiencies-congress
A compilation of articles published in JHI (Journal of Human Immunity)
1: Callie C.Y. Wong, Tifenn Wauquier, Carolina Uggenti, Colin Stok, Alice Lepelley, Marie-Louise Frémond, Yanick J. Crow; Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy. J Hum Immun 7 July 2025; 1 (2): e20250035. doi: https://doi.org/10.70962/jhi.20250035
2: Stephan D. Gadola, Ömür Ardeniz, Angelica Cuapio, Jacques Zimmer, Hans-Gustaf Ljunggren; Inborn errors of immunity affecting the MHC class I pathway for antigen presentation. J Hum Immun 7 July 2025; 1 (2): e20250029. doi: https://doi.org/10.70962/jhi.20250029
3: Marie Materna, Simin Seyedpour, Tom Le Voyer, Nima Parvaneh, Niloufar Yazdanpanah, Amir Ali Hamidieh, Mehrzad Mehdizadeh, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Krishnajina Amarajeeva, Mana Momenilandi, Jean-Laurent Casanova, Mohammad Shahrooei, Jacinta Bustamante, Nima Rezaei, Vivien Béziat; Two different forms of inherited human TCRα chain deficiency. J Hum Immun 7 July 2025; 1 (2): e20250014. doi: https://doi.org/10.70962/jhi.20250014