Research & Literature

Detection of impaired IgG antibody formation facilitates the decision on early immunoglobulin replacement in hypogammaglobulinemic patients.

Wolf HM, Thon V, Litzman J, Eibl MM

Frontiers in immunology 2015; (6()):32 doi:10.3389/fimmu.2015.00032.

Pediatric acute respiratory distress syndrome: definition, incidence, and epidemiology: proceedings from the Pediatric Acute Lung Injury Consensus Conference.

Khemani RG, Smith LS, Zimmerman JJ, et al.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2015; (16(5 Suppl 1)):S23-40 doi:10.1097/PCC.0000000000000432.

Comorbidities and assessment of severity of pediatric acute respiratory distress syndrome: proceedings from the Pediatric Acute Lung Injury Consensus Conference.

Flori H, Dahmer MK, Sapru A, et al.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2015; (16(5 Suppl 1)):S41-50 doi:10.1097/PCC.0000000000000430.

Mucociliary clearance techniques for treating non-cystic fibrosis bronchiectasis: Is there evidence?

Snijders D, Fernandez Dominguez B, Calgaro S, et al.

International journal of immunopathology and pharmacology 2015; (28(2)):150-9 doi:10.1177/0394632015584724.

Specific Antibody Deficiencies.

Wall LA, Dimitriades VR, Sorensen RU

Immunology and allergy clinics of North America 2015; (35(4)):659-70.

Pulmonary Manifestations of Primary Immunodeficiency Disorders.

Nonas S

Immunology and allergy clinics of North America 2015; (35(4)):753-66.

The autoimmune conundrum in common variable immunodeficiency disorders.

van de Ven AA, Warnatz K

Current opinion in allergy and clinical immunology 2015; (15(6)):514-24 doi:10.1097/ACI.0000000000000218.

How to use immunoglobulin levels in investigating immune deficiencies.

Ladomenou F, Gaspar B

Archives of disease in childhood. Education and practice edition 2016; (101(3)):129-35 doi:10.1136/archdischild-2015-309060.

[Specific antibody deficiency: Primary immunodeficiency associated to respiratory allergy].

Fernández F, Campillay R, Palma V, et al.

Revista chilena de pediatria 2017; (88(2)):252-257 doi:10.1016/j.rchipe.2016.08.006.

Shift from intravenous or 16% subcutaneous replacement therapy to 20% subcutaneous immunoglobulin in patients with primary antibody deficiencies.

Canessa C, Iacopelli J, Pecoraro A, et al.

International journal of immunopathology and pharmacology 2017; (30(1)):73-82 doi:10.1177/0394632016681577.

Intravenous and subcutaneous immunoglobulin G replacement therapy.

Bonilla FA

Allergy and asthma proceedings 2016; (37(6)):426-431 doi:10.2500/aap.2016.37.3987.

When to initiate immunoglobulin replacement therapy (IGRT) in antibody deficiency: a practical approach.

Jolles S, Chapel H, Litzman J

Clinical and experimental immunology 2017; (188(3)):333-341 doi:10.1111/cei.12915.

Airway-Clearance Techniques in Children and Adolescents with Chronic Suppurative Lung Disease and Bronchiectasis.

Lee AL, Button BM, Tannenbaum EL

Frontiers in pediatrics 2017; (5()):2 doi:10.3389/fped.2017.00002.

Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group.

Jolles S, Sánchez-Ramón S, Quinti I, et al.

Clinical and experimental immunology 2017; (190(2)):226-234 doi:10.1111/cei.13012.

Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.

Sperlich JM, Grimbacher B, Workman S, et al.

The journal of allergy and clinical immunology. In practice 2018; (6(1)):159-168.e3 doi:10.1016/j.jaip.2017.05.024.

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency.

Schepp J, Chou J, Skrabl-Baumgartner A, et al.

Frontiers in immunology 2017; (8()):964 doi:10.3389/fimmu.2017.00964.

Immunoglobulin replacement therapy in primary and secondary antibody deficiency: The correct clinical approach.

Pecoraro A, Crescenzi L, Granata F, et al.

International immunopharmacology 2017; (52()):136-142 doi:10.1016/j.intimp.2017.09.005.

Influenza Vaccination in Patients with Common Variable Immunodeficiency (CVID).

Mieves JF, Wittke K, Freitag H, et al.

Current allergy and asthma reports 2017; (17(11)):78 doi:10.1007/s11882-017-0749-3.

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.

Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.

Shamriz O, Shadur B, NaserEddin A, et al.

European journal of pediatrics 2018; (177(8)):1163-1172 doi:10.1007/s00431-018-3171-5.

Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency.

Alkan G, Keles S, Reisli İ

International journal of pediatrics 2018; (2018()):3527480 doi:10.1155/2018/3527480.

The Lung in Primary Immunodeficiencies: New Concepts in Infection and Inflammation.

Baumann U, Routes JM, Soler-Palacín P, Jolles S

Frontiers in immunology 2018; (9()):1837 doi:10.3389/fimmu.2018.01837.

Primary immunodeficiency.

McCusker C, Upton J, Warrington R

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018; (14(Suppl 2)):61 doi:10.1186/s13223-018-0290-5.

Personalized Therapy: Immunoglobulin Replacement for Antibody Deficiency.

Wasserman RL

Immunology and allergy clinics of North America 2019; (39(1)):95-111 doi:10.1016/j.iac.2018.08.001.

Loss of ARHGEF1 causes a human primary antibody deficiency.

Bouafia A, Lofek S, Bruneau J, et al.

The Journal of clinical investigation 2019; (129(3)):1047-1060.

Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy.

Gernez Y, Baker MG, Maglione PJ

Transfusion 2018; (58 Suppl 3()):3056-3064 doi:10.1111/trf.15020.

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Al-Herz W, Chou J, Delmonte OM, et al.

Frontiers in immunology 2018; (9()):3146 doi:10.3389/fimmu.2018.03146.

ARHGEF1 deficiency reveals Gα13-associated GPCRs are critical regulators of human lymphocyte function.

Mathew D, Kremer KN, Torres RM

The Journal of clinical investigation 2019; (129(3)):965-968.

EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.

van Dongen JJM, van der Burg M, Kalina T, et al.

Frontiers in immunology 2019; (10()):1271 doi:10.3389/fimmu.2019.01271.

Non-CF Bronchiectasis as a Possible Indicator of a Primary Immunodeficiency: Diagnosis, Clinical Course, and Quality of Life in a Pediatric Cohort.

Klemann C, Kellermann KB, Ehl S, et al.

Klinische Padiatrie 2019; (231(5)):240-247 doi:10.1055/a-0963-0293.

Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.

Chinn IK, Chan AY, Chen K, et al.

The Journal of allergy and clinical immunology 2020; (145(1)):46-69 doi:10.1016/j.jaci.2019.09.009.

Impact of IVIG vs. SCIG on IgG trough level and infection incidence in primary immunodeficiency diseases: A systematic review and meta-analysis of clinical studies.

Shrestha P, Karmacharya P, Wang Z, et al.

The World Allergy Organization journal 2019; (12(10)):100068 doi:10.1016/j.waojou.2019.100068.

Pulmonary function evaluation in pediatric patients with primary immunodeficiency complicated by bronchiectasis.

Chiu CC, Wang CJ, Lee WI, et al.

Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi 2020; (53(6)):1014-1020 doi:10.1016/j.jmii.2020.01.006.

An updated review on activated PI3 kinase delta syndrome (APDS).

Singh A, Joshi V, Jindal AK, et al.

Genes & diseases 2020; (7(1)):67-74 doi:10.1016/j.gendis.2019.09.015.

Bronchiectasis in Primary Antibody Deficiencies: A Multidisciplinary Approach.

Wall LA, Wisner EL, Gipson KS, Sorensen RU

Frontiers in immunology 2020; (11()):522 doi:10.3389/fimmu.2020.00522.

Primary Immunodeficiency Disorders in children with Non-Cystic Fibrosis Bronchiectasis.

Çağdaş D, Pehlivantürk Kizılkan M, Tagiyev A, et al.

European annals of allergy and clinical immunology 2020; (52(6)):271-276 doi:10.23822/EurAnnACI.1764-1489.151.

Evaluation of pulmonary findings in patients with humoral immunodeficiency.

Karalı Z, Karalı Y, Çekiç Ş, et al.

Turk pediatri arsivi 2020; (55(2)):174-183 doi:10.14744/TurkPediatriArs.2020.46656.

Efficacy and quality of life assessment in the use of subcutaneous immunoglobulin treatment for children with primary immunodeficiency disorder.

Sarı G, Güven Bilgin B, Yılmaz E, et al.

European annals of allergy and clinical immunology 2021; (53(4)):177-184 doi:10.23822/EurAnnACI.1764-1489.179.

Effectiveness of hypertonic saline nebulization in airway clearance in children with non-cystic fibrosis bronchiectasis: A randomized control trial.

Anuradha KWDA, Gunathilaka PKG, Wickramasinghe VP

Pediatric pulmonology 2021; (56(2)):509-515 doi:10.1002/ppul.25206.

Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.

Yadav RM, Gupta M, Dalvi A, et al.

Frontiers in immunology 2020; (11()):612316 doi:10.3389/fimmu.2020.612316.

Inborn Errors of Immunity: how to diagnose them?

Grumach AS, Goudouris ES

Jornal de pediatria 2021; (97 Suppl 1()):S84-S90 doi:10.1016/j.jped.2020.11.007.

Update on Infections in Primary Antibody Deficiencies.

Demirdag YY, Gupta S

Frontiers in immunology 2021; (12()):634181 doi:10.3389/fimmu.2021.634181.

Vaccination in PADs.

Milito C, Soccodato V, Collalti G, et al.

Vaccines 2021; (9(6)) doi:10.3390/vaccines9060626.

COVID-19 in children with inborn errors of immunity: clinical scenarios.

Moazzen N, Ahanchian H, Aelami MH, et al.

American journal of clinical and experimental immunology 2021; (10(3)):77-85.

Long-term macrolide treatment for non-cystic fibrosis bronchiectasis in children: a meta-analysis.

Lee E, Sol IS, Kim JD, et al.

Scientific reports 2021; (11(1)):24287 doi:10.1038/s41598-021-03778-8.

Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study.

Movahedi M, Jamee M, Ghaffaripour H, et al.

Allergologia et immunopathologia 2022; (50(1)):80-84 doi:10.15586/aei.v50i1.388.

The pediatric common variable immunodeficiency - from genetics to therapy: a review.

Szczawinska-Poplonyk A, Schwartzmann E, Bukowska-Olech E, et al.

European journal of pediatrics 2022; (181(4)):1371-1383 doi:10.1007/s00431-021-04287-6.

Immune Dysregulation in Pediatric Common Variable Immunodeficiency: Implications for the Diagnostic Approach.

Szczawińska-Popłonyk A, Ta Polska-Jóźwiak K, Schwartzmann E, Popłonyk N

Frontiers in pediatrics 2022; (10()):855200 doi:10.3389/fped.2022.855200.

Impact of Primary Immunodeficiency Diseases on the Life Experiences of Patients in Malaysia From the Caregivers' Perspective: A Qualitative Study.

Ahmed Meelad R, Abd Hamid IJ, Hashim IF, et al.

Frontiers in pediatrics 2022; (10()):846393 doi:10.3389/fped.2022.846393.

Multiple Breath Washout for Early Assessment of Pulmonary Complications in Patients With Primary Antibody Deficiencies: An Observational Study in Pediatric Age.

Secchi T, Baselli LA, Russo MC, et al.

Frontiers in pediatrics 2022; (10()):773751 doi:10.3389/fped.2022.773751.

Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.

Similuk MN, Yan J, Ghosh R, et al.

The Journal of allergy and clinical immunology 2022; (150(4)):947-954 doi:10.1016/j.jaci.2022.06.009.

Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections.

Nepesov S, Firtina S, Aygun FD, et al.

Allergologia et immunopathologia 2022; (50(4)):50-56 doi:10.15586/aei.v50i4.605.

An Expert Opinion/Approach: Clinical Presentations, Diagnostic Considerations, and Therapeutic Options for Gastrointestinal Manifestations of Common Variable Immune Deficiency.

Hashash JG, Squire J, Francis FF, et al.

The American journal of gastroenterology 2022; (117(11)):1743-1752 doi:10.14309/ajg.0000000000002027.

Bronchiectasis and obstructive lung diseases in primary antibody deficiencies and beyond: update on management and pathomechanisms.

Hanitsch LG

Current opinion in allergy and clinical immunology 2022; (22(6)):335-342 doi:10.1097/ACI.0000000000000856.

Monitoring disease progression in childhood bronchiectasis.

Ramsey KA, Schultz A

Frontiers in pediatrics 2022; (10()):1010016 doi:10.3389/fped.2022.1010016.

Definition, Incidence, and Epidemiology of Pediatric Acute Respiratory Distress Syndrome: From the Second Pediatric Acute Lung Injury Consensus Conference.

Yehya N, Smith L, Thomas NJ, et al.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2023; (24(12 Suppl 2)):S87-S98 doi:10.1097/PCC.0000000000003161.

Response to SARS-CoV-2 initial series and additional dose vaccine in pediatric patients with predominantly antibody deficiency.

Tandon M, DiGiacomo DV, Zhou B, et al.

Frontiers in immunology 2023; (14()):1217718 doi:10.3389/fimmu.2023.1217718.

Monogenic forms of common variable immunodeficiency and implications on target therapeutic approaches.

Tessarin G, Baronio M, Lougaris V

Current opinion in allergy and clinical immunology 2023; (23(6)):461-466 doi:10.1097/ACI.0000000000000947.

Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study.

Ahmad Azahari AHS, Hakim Zada F, Ismail IH, et al.

Frontiers in immunology 2023; (14()):1308305 doi:10.3389/fimmu.2023.1308305.

Multiple-breath washout to detect lung disease in patients with inborn errors of immunity.

Busack LM, Thee S, Liu Y, et al.

ERJ open research 2024; (10(2)) doi:10.1183/23120541.01019-2023.

A patient empowerment program for primary immunodeficiency improves quality of life in children and adolescents.

Fasshauer M, Schuermann G, Gebert N, et al.

Immunotherapy 2024; (16(12)):813-819 doi:10.1080/1750743X.2024.2367924.

Therapeutic Management of Bronchiectasis in Children and Adolescents: A Concise Narrative Review.

Faverio P, Franco G, Landoni V, et al.

Journal of clinical medicine 2024; (13(16)) doi:10.3390/jcm13164757.

The lung in inborn errors of immunity.

Restrepo-Gualteros S, Nino G, Gutierrez MJ

Pediatric pulmonology 2025; (60 Suppl 1()):S29-S31 doi:10.1002/ppul.27258.

[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].

Zheng W, Peng X, Lei Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(12)):1473-1477 doi:10.3760/cma.j.cn511374-20240620-00343.

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M, Dzinovic I, Skorvanek M, et al.

Brain : a journal of neurology 2025; (148(8)):2827-2846 doi:10.1093/brain/awaf059.

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.

A novel truncated mutation in folate receptor α (FRα) affecting its glycosylation and affinity for folate in a consanguineous family with progressive encephalopathy: follow up and treatment improvement.

Rahma F, Olfa AF, Mahjoub B, et al.

Molecular biology reports 2025; (52(1)):699 doi:10.1007/s11033-025-10781-z.

Radiological Patterns of Pediatric Non-cystic Fibrosis Bronchiectasis: A Retrospective Study From Oman.

Al Jabri M, Al Humaimi O, Al Yousufi F, et al.

Cureus 2025; (17(6)):e86516 doi:10.7759/cureus.86516.

Non-infectious pulmonary and gastrointestinal manifestations in primary antibody deficiencies: lessons for the clinic.

Franco M, Buso H, Carfora F, et al.

Expert review of clinical immunology 2025; (21(9)):1229-1249 doi:10.1080/1744666X.2025.2556435.

Immunologic evaluation by a pediatric pulmonologist.

Manothummetha K, Wyke M, Kleiner G, Gans M

Paediatric respiratory reviews 2026; (58()):69-82 doi:10.1016/j.prrv.2025.08.002.

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.

The Relationship Between Peripheral Eosinophilia, Lower Respiratory Tract Pathogens, Age at First Pneumonia, and Malnutrition in Children with Non-cystic Fibrosis Bronchiectasis.

Olgun EG, Özcan G, Zirek F, et al.

Thoracic research and practice 2026; (27(2)):96-102 doi:10.4274/ThoracResPract.2026.2025-9-3.

Inborn errors of immunity at school: How can we do better?

Lopez-Seguer L, Rodriguez-Tello S, Gonzalez-Amores M, et al.

Journal of human immunity 2026; (2(3)):e20250120 doi:10.70962/jhi.20250120.

Severe Post-Measles ARDS with Multisystem Complications in an Unvaccinated Child in a Resource-Limited Setting: A Case Report.

Siyad AO, Hassan AM, Hassan RA

International medical case reports journal 2026; (19()):608541 doi:10.2147/IMCRJ.S608541.

Patient and caregiver perspectives on transition from pediatric to adult care in inborn errors of immunity: a Polish multicenter survey.

Będzichowska A, Tomaszewska A, Napiórkowska-Baran K, et al.

Frontiers in immunology 2026; (17()):1816943 doi:10.3389/fimmu.2026.1816943.

Bronchiectasis With Inborn Errors of Immunity: Zooming in on Predominantly Antibody Deficiencies.

Galant-Swafford J, Lommatzsch S, Alam R, Janoff EN

The journal of allergy and clinical immunology. In practice 2026; (14(9)):2028-2037 doi:10.1016/j.jaip.2026.06.045.

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.

Work participation in inborn errors of immunity: The dual burden on patients and caregivers.

Pulvirenti F, Sgrulletti M, Radovic K, et al.

Journal of human immunity 2026; (2(6)) doi:10.70962/jhi.20260077.

Pulmonary Rehabilitation in Inborn Errors of Immunity with Bronchiectasis: A Narrative Review with Implications for High-Consanguinity Settings.

Alruwaili R, Albelasi A, Alqahtani MM

Journal of clinical medicine 2026; (15(20)) doi:10.3390/jcm15208131.

When cure is not enough: Parental anxiety, depression, and caregiver burden after HSCT for inborn errors of immunity.

Aydemir S, Durcan G, Nurhan E, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(11)).