Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

[Infection due to Mycobacterium bovis in common variable immunodeficiency].

Herrera-Sánchez DA, Castilla-Rodríguez JL, Castrejón-Vázquez MI, et al.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2015; (62(1)):75-82.

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Keller MD, Pandey R, Li D, et al.

The Journal of allergy and clinical immunology 2016; (138(2)):544-550.e4.

Comparison of various classifications for patients with common variable immunodeficiency (CVID) using measurement of B-cell subsets.

Yazdani R, Seify R, Ganjalikhani-Hakemi M, et al.

Allergologia et immunopathologia 2017; (45(2)):183-192 doi:10.1016/j.aller.2016.07.001.

Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort.

Westh L, Mogensen TH, Dalgaard LS, et al.

Scandinavian journal of immunology 2017; (85(6)):450-461 doi:10.1111/sji.12551.

Fifth Percentile Cutoff Values for Antipneumococcal Polysaccharide and Anti-Salmonella typhi Vi IgG Describe a Normal Polysaccharide Response.

Schaballie H, Bosch B, Schrijvers R, et al.

Frontiers in immunology 2017; (8()):546 doi:10.3389/fimmu.2017.00546.

Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry.

Feuille EJ, Anooshiravani N, Sullivan KE, et al.

Journal of clinical immunology 2018; (38(1)):28-34 doi:10.1007/s10875-017-0456-9.

Prescribing Immunoglobulin Replacement Therapy for Patients with Non-classical and Secondary Antibody Deficiency: an Analysis of the Practice of Clinical Immunologists in the UK and Republic of Ireland.

Edgar JDM, Richter AG, Huissoon AP, et al.

Journal of clinical immunology 2018; (38(2)):204-213 doi:10.1007/s10875-017-0469-4.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

Tuijnenburg P, Lango Allen H, Burns SO, et al.

The Journal of allergy and clinical immunology 2018; (142(4)):1285-1296 doi:10.1016/j.jaci.2018.01.039.

What Is the Burden of Immunoglobulin Replacement Therapy in Adult Patients With Primary Immunodeficiencies? A Systematic Review.

Jones GL, Vogt KS, Chambers D, et al.

Frontiers in immunology 2018; (9()):1308 doi:10.3389/fimmu.2018.01308.

Fatigue and the wear-off effect in adult patients with common variable immunodeficiency.

Hajjar J, Kutac C, Rider NL, et al.

Clinical and experimental immunology 2018; (194(3)):327-338 doi:10.1111/cei.13210.

Hematopoietic Stem Cell Transplantation for Primary Immunodeficiency Disorders: Experience from a Referral Center in India.

Uppuluri R, Jayaraman D, Sivasankaran M, et al.

Indian pediatrics 2018; (55(8)):661-664.

Gastric Cancer Screening in Common Variable Immunodeficiency.

van der Poorten DK, McLeod D, Ahlenstiel G, et al.

Journal of clinical immunology 2018; (38(7)):768-777 doi:10.1007/s10875-018-0546-3.

A case report of pregnancy in a patient with common variable immunodeficiency emphasizing the need for personalized immunoglobulin replacement.

Więsik-Szewczyk E, Jahnz-Różyk K

Medicine 2018; (97(44)):e12804 doi:10.1097/MD.0000000000012804.

Common Variable Immunodeficiency-Associated Inflammatory Enteropathy: The New Era of Biological Therapy.

Arieira C, Dias de Castro F, Moreira MJ, Cotter J

GE Portuguese journal of gastroenterology 2018; (25(6)):322-326 doi:10.1159/000486448.

A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency.

Pikkarainen S, Martelius T, Ristimäki A, et al.

The American journal of gastroenterology 2019; (114(4)):648-655 doi:10.14309/ajg.0000000000000140.

IRF2BP2: A new player in the regulation of cell homeostasis.

Ramalho-Oliveira R, Oliveira-Vieira B, Viola JPB

Journal of leukocyte biology 2019; (106(3)):717-723 doi:10.1002/JLB.MR1218-507R.

Liver stiffness assessment by transient elastography suggests high prevalence of liver involvement in common variable immunodeficiency.

Crescenzi L, Pecoraro A, Fiorentino A, et al.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2019; (51(11)):1599-1603 doi:10.1016/j.dld.2019.05.016.

The evaluation of neutropenia in common variable immune deficiency patients.

Ghorbani M, Fekrvand S, Shahkarami S, et al.

Expert review of clinical immunology 2019; (15(11)):1225-1233 doi:10.1080/1744666X.2020.1677154.

Lung disease in patients with common variable immunodeficiency.

López AL, Paolini MV, Fernández Romero DS

Allergologia et immunopathologia 2020; (48(6)):720-728 doi:10.1016/j.aller.2020.04.001.

Defining Common Variable Immunodeficiency Disorders in 2020.

Ameratunga R, Allan C, Woon ST

Immunology and allergy clinics of North America 2020; (40(3)):403-420 doi:10.1016/j.iac.2020.03.001.

PROMIS-29 survey confirms major impact of fatigue on health-related quality of life in common variable immunodeficiency.

Zhang S, Kline M, Fuleihan RL, et al.

Immunologic research 2020; (68(6)):379-388 doi:10.1007/s12026-020-09162-4.

Comparison of Two Different Criteria for Specific Antibody Deficiency in Patients With Chronic and Recurrent Rhinosinusitis.

Chernikova D, Stiehm R, Estevez D, Song CH

Allergy & rhinology (Providence, R.I.) 2020; (11()):2152656720980408 doi:10.1177/2152656720980408.

State-of-the-art diagnostic evaluation of common variable immunodeficiency.

Lee TK, Gereige JD, Maglione PJ

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2021; (127(1)):19-27 doi:10.1016/j.anai.2021.03.005.

Lessons Learned From the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis.

Janssen LMA, van der Flier M, de Vries E

Frontiers in immunology 2021; (12()):620709 doi:10.3389/fimmu.2021.620709.

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

Li J, Lei WT, Zhang P, et al.

The Journal of experimental medicine 2021; (218(11)) doi:10.1084/jem.20210566.

Impaired Memory B-Cell Response to Influenza Immunization in Patients With Common Variable Immunodeficiency (CVID).

Zhan W, Hatchette T, Yue F, et al.

Pathogens & immunity 2021; (6(2)):105-118 doi:10.20411/pai.v6i2.405.

Monitoring patients with uncomplicated common variable immunodeficiency: a systematic review.

Lee EY, Betschel S, Grunebaum E

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022; (18(1)):21 doi:10.1186/s13223-022-00661-7.

The Euroflow PID Orientation Tube in the diagnostic workup of primary immunodeficiency: Daily practice performance in a tertiary university hospital.

Neirinck J, Emmaneel A, Buysse M, et al.

Frontiers in immunology 2022; (13()):937738 doi:10.3389/fimmu.2022.937738.

Novel mutation and expanding phenotype in IRF2BP2 deficiency.

Körholz J, Gabrielyan A, Sczakiel HL, et al.

Rheumatology (Oxford, England) 2023; (62(4)):1699-1705 doi:10.1093/rheumatology/keac575.

Clinical manifestations and approach to the management of patients with common variable immunodeficiency and liver disease.

Daza-Cajigal V, Segura-Guerrero M, López-Cueto M, et al.

Frontiers in immunology 2023; (14()):1197361 doi:10.3389/fimmu.2023.1197361.

Case Report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders.

Pan Y, Shang G, Li J, et al.

Frontiers in immunology 2023; (14()):967345 doi:10.3389/fimmu.2023.967345.

Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

García-Aznar JM, Maneiro Pampín E, García Ramos M, et al.

Frontiers in immunology 2023; (14()):1279171 doi:10.3389/fimmu.2023.1279171.

Pyopericardium presenting as pericardial tamponade in a patient with common variable immunodeficiency disorder.

Windels A, Neri I, Conceição C, Osório J

BMJ case reports 2023; (16(10)) doi:10.1136/bcr-2023-255362.

Endoscopic and histopathological hints on infections in patients of common variable immunodeficiency disorder with gastrointestinal symptoms.

Chen Y, You Y, Li J, et al.

BMC gastroenterology 2023; (23(1)):413 doi:10.1186/s12876-023-03052-3.

Portal hypertension in common variable immunodeficiency disorders - a single center analysis on clinical and immunological parameter in 196 patients.

Hanitsch LG, Steiner S, Schumann M, et al.

Frontiers in immunology 2023; (14()):1268207 doi:10.3389/fimmu.2023.1268207.

Primary Immunodeficiency: Specific antibody deficiency with normal IgG.

Hatcher VR, Alix VC, Hellu TS, Schuldt MM

Allergy and asthma proceedings 2024; (45(5)):321-325 doi:10.2500/aap.2024.45.240057.

Immunodeficiency: Burden of Illness.

Hsueh JC, Van Hersh AT, Zhao W

Allergy and asthma proceedings 2024; (45(5)):294-298 doi:10.2500/aap.2024.45.240060.

The role of immunophenotyping in common variable immunodeficiency: a narrative review.

Neirinck J, Buysse M, De Vriendt C, et al.

Critical reviews in clinical laboratory sciences 2025; (62(2)):65-84 doi:10.1080/10408363.2024.2404842.

Intrinsic functional defects in B cells of patients with NFKB2 mutations.

Min Q, Li Y, Wu X, et al.

Clinical and experimental immunology 2025; (219(1)) doi:10.1093/cei/uxae090.

A patient with CVID-enteropathy successfully treated with ustekinumab.

Marley F, Lockett M, Gompels M, Grammatikos A

Immunologic research 2024; (73(1)):19 doi:10.1007/s12026-024-09559-5.

Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.

Barbati F, Lodi L, Boscia S, et al.

European journal of immunology 2025; (55(3)):e202451433 doi:10.1002/eji.202451433.

IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation.

Udemgba C, Pillay B, Shafer S, et al.

The Journal of allergy and clinical immunology 2025; (155(6)):2052-2062.e5 doi:10.1016/j.jaci.2025.02.038.

Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency.

Danieli MG, Murdaca G, Mezzanotte C, et al.

Biomedicines 2025; (13(3)) doi:10.3390/biomedicines13030552.

An IRF2BP2 Variant in a Pediatric Patient with Common Variable Immunodeficiency.

Tekcan D, Ceylan A, Kulhas Celik I, Artac H

Pediatric allergy, immunology, and pulmonology 2025; (38(3)):100-104 doi:10.1177/2151321X251360561.

Multiplexed assays of variant effect for clinical variant interpretation.

McEwen AE, Tejura M, Fayer S, et al.

Nature reviews. Genetics 2026; (27(2)):137-154 doi:10.1038/s41576-025-00870-x.

Reassessing Polysaccharide Responsiveness: Unveiling Limitations of Current Guidelines and Introducing the Polysaccharide Responsiveness Percentile Approach.

Fogsgaard SF, Todaro S, Larsen CS, et al.

Journal of clinical immunology 2025; (45(1)):115.

Real-world patterns of immunoglobulin replacement therapy for infection prevention in common variable immunodeficiency: a multicenter nationwide study.

Moral Moral P, Garcia-Bustos V, Balastegui-Martin H, et al.

Frontiers in immunology 2025; (16()):1640290 doi:10.3389/fimmu.2025.1640290.

Immunoglobulin G Trough Levels and Infection Risk in Adults with Inborn Errors of Immunity Receiving Immunoglobulin Therapy.

Aktaş ÖÖ, Özer NO, Kaplankıran C, et al.

Medicina (Kaunas, Lithuania) 2025; (61(9)) doi:10.3390/medicina61091549.

CVID Enteropathy Is Difficult To Treat and Shows a Heterogeneous Histopathology.

Juliana NM, Severs M, Marsden JW, et al.

Journal of clinical immunology 2025; (45(1)):129.

Common variable immunodeficiency.

Solanich X, Antolí A, Alsina L

Medicina clinica 2025; (165(5)):107168 doi:10.1016/j.medcli.2025.107168.

The Presentation, Diagnosis, and Management of Autosomal Dominant Common Variable Immunodeficiency Type XII with NFKB1 Mutation and Autoimmune Neutropenia Treated with Allogenic Stem Cell Transplantation.

Gold M, Kannan C, Schofield A, et al.

Hematology reports 2025; (17(5)) doi:10.3390/hematolrep17050049.

When immunity turns rogue: lymphoma and lymphoproliferative disorders in common variable immune deficiency.

Sciacca B, Franco M, Gualtiero G, et al.

Current opinion in allergy and clinical immunology 2025; (25(6)):444-454 doi:10.1097/ACI.0000000000001121.

Case Report: Novel IRF2BP2 variant in a Japanese patient with impaired B-cell differentiation, Th1 polarization, and systemic immune dysregulation.

Endo Y, Koga T, Kurushima S, et al.

Frontiers in immunology 2025; (16()):1662899 doi:10.3389/fimmu.2025.1662899.

Current concepts: Common variable immunodeficiency.

Cunningham-Rundles C

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2026; (136(4)):376-386 doi:10.1016/j.anai.2025.11.009.

Common Variable Immunodeficiency Disorders: A perspective from New Zealand.

Ameratunga R, J Longhurst H, Lehnert K, et al.

Clinical reviews in allergy & immunology 2025; (68(1)):105 doi:10.1007/s12016-025-09099-2.

Enteropathy in Common Variable Immunodeficiency.

Grammatikos A

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1540-1545 doi:10.1016/j.jaip.2026.03.021.

From CVID to PIRD: Genetic Testing Leading to Signal Transducer and Activator of Transcription 3 Gain-of-Function Diagnosis and Directed Therapy.

Lang A, Agharahimi A, Vogel TP, et al.

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1506-1514 doi:10.1016/j.jaip.2026.03.041.

Clinical practice guideline for the diagnosis of granulomatous-lymphocytic interstitial lung disease in patients with common variable immunodeficiency disorders: an ERS Clinical Research Collaboration.

Bintalib HM, van de Ven AAJM, Rojas-Reyes MX, et al.

The European respiratory journal 2026; (68(3)) doi:10.1183/13993003.02224-2025.

Shared Decision-Making and Health-Related Quality of Life in the Diagnosis and Management of Patients With Inborn Errors of Immunity.

Lawrence MG, Kim VHD, Orange JS, Scherzer R

The journal of allergy and clinical immunology. In practice 2026; doi:10.1016/j.jaip.2026.07.010.

Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.

Gkantaras A, , Seidel MG

Journal of human immunity 2026; (2(5)):e20260091 doi:10.70962/jhi.20260091.

Gastrointestinal manifestations of common variable immunodeficiency: what a gastroenterologist needs to be aware of.

Levy DM, Meriwether M, Schwartz MR, et al.

Expert review of gastroenterology & hepatology 2026; (20(8)):673-682 doi:10.1080/17474124.2026.2716136.

Multidisciplinary Delphi consensus on malignancy screening in patients with common variable immunodeficiency.

Cabanero-Navalon MD, de Andrés-Martín A, Gil AA, et al.

Frontiers in immunology 2026; (17()):1897051 doi:10.3389/fimmu.2026.1897051.

Memory B Cells and Antibody Responses to Vaccines in Infected Children (MARVIC) With Recurrent Infections: Protocol for a Prospective Observational Study.

Jamaluddin J, Mohamad SM, Zainal Abidin MA, et al.

JMIR research protocols 2026; (15()):e101835 doi:10.2196/101835.

Vedolizumab treatment in adults with immunodeficiency-associated enteropathy: a case series.

Angarola E, Etchevers MJ, De Paula JA, et al.

Frontiers in immunology 2026; (17()):1953966 doi:10.3389/fimmu.2026.1953966.