Research & Literature

Lung magnetic resonance imaging with diffusion weighted imaging provides regional structural as well as functional information without radiation exposure in primary antibody deficiencies.

Milito C, Pulvirenti F, Serra G, et al.

Journal of clinical immunology 2015; (35(5)):491-500 doi:10.1007/s10875-015-0172-2.

Secondary antibody deficiencies.

Dhalla F, Misbah SA

Current opinion in allergy and clinical immunology 2015; (15(6)):505-13 doi:10.1097/ACI.0000000000000215.

X-linked Agammaglobulinemia.

Suri D, Rawat A, Singh S

Indian journal of pediatrics 2016; (83(4)):331-7 doi:10.1007/s12098-015-2024-8.

Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK.

Bryan BA, Battersby A, Shillitoe BM, et al.

Journal of clinical immunology 2016; (36(5)):472-9 doi:10.1007/s10875-016-0284-3.

Unsupervised High-Dimensional Analysis Aligns Dendritic Cells across Tissues and Species.

Guilliams M, Dutertre CA, Scott CL, et al.

Immunity 2016; (45(3)):669-684 doi:10.1016/j.immuni.2016.08.015.

[Sepsis due to Pseudomona as a debut of a primary immunodeficiency in a child].

Vera Sáez-Benito MC, López Úbeda M, Madurga Revilla P, et al.

Archivos argentinos de pediatria 2016; (114(6)):e444-e447 doi:10.5546/aap.2016.e444.

Serial Serum Immunoglobulin G (IgG) Trough Levels in Patients with X-linked Agammaglobulinemia on Replacement Therapy with Intravenous Immunoglobulin: Its Correlation with Infections in Indian Children.

Suri D, Bhattad S, Sharma A, et al.

Journal of clinical immunology 2017; (37(3)):311-318 doi:10.1007/s10875-017-0379-5.

Pharmacokinetics of a novel human intravenous immunoglobulin 10% in patients with primary immunodeficiency diseases: Analysis of a phase III, multicentre, prospective, open-label study.

Melamed IR, Borte M, Trawnicek L, et al.

European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences 2018; (118()):80-86 doi:10.1016/j.ejps.2018.03.007.

Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells.

Edwards ESJ, Bosco JJ, Aui PM, et al.

Frontiers in immunology 2019; (10()):2593 doi:10.3389/fimmu.2019.02593.

Herpes simplex virus type 2 meningitis as a manifestation of Good's syndrome.

Matta L, Ramírez-Velasco MC, Zea-Vera AF

Journal of neurovirology 2020; (26(3)):429-432 doi:10.1007/s13365-019-00819-x.

Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.

Lougaris V, Soresina A, Baronio M, et al.

The Journal of allergy and clinical immunology 2020; (146(2)):429-437 doi:10.1016/j.jaci.2020.03.001.

Case Report: Invasive Non Type b Haemophilus influenzae in Immunocompromised Children.

Gozum GG, Tatarina-Nulman O, John M

The American journal of case reports 2020; (21()):e920853 doi:10.12659/AJCR.920853.

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.

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.

Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG

Human mutation 2020; (41(10)):1734-1737 doi:10.1002/humu.24088.

Reconstitution of IgG Subclasses Following Immunoglobulin Administration in Adult Patients with Common Variable Immune Deficiency.

Reeder D, Gupta S

International archives of allergy and immunology 2021; (182(3)):243-253 doi:10.1159/000510790.

X-Linked Agammaglobulinemia With Chronic Meningoencephalitis: A Diagnostic Challenge.

Saini AG, Radotra BD, Bhattarai D, et al.

Indian pediatrics 2021; (58(2)):169-173.

X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up.

Yıldırım İ, Topyıldız E, Bilgin RBG, et al.

American journal of clinical and experimental immunology 2021; (10(1)):37-43.

Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.

Ameratunga R, Allan C, Lehnert K, Woon ST

Clinical reviews in allergy & immunology 2021; (61(2)):226-235 doi:10.1007/s12016-020-08828-z.

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.

Le Coz C, Nguyen DN, Su C, et al.

The Journal of experimental medicine 2021; (218(7)) doi:10.1084/jem.20201750.

Vaccination in PADs.

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

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

Comparison of the composition of lymphocyte subpopulations in non-relapse and relapse patients with squamous cell carcinoma of the head and neck before, during radiochemotherapy and in the follow-up period: a multicenter prospective study of the German Cancer Consortium Radiation Oncology Group (DKTK-ROG).

Niu M, Combs SE, Linge A, et al.

Radiation oncology (London, England) 2021; (16(1)):141 doi:10.1186/s13014-021-01868-5.

Clinical and laboratory observation on immunoglobulin replacement therapy switching from an intravenous to a subcutaneous route in a Malaysian X-linked agammaglobulinemia patient.

Adli A, Wahab AA, Abdul Latiff AH, et al.

The Medical journal of Malaysia 2022; (77(1)):95-97.

Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity.

van Leeuwen LPM, GeurtsvanKessel CH, Ellerbroek PM, et al.

The Journal of allergy and clinical immunology 2022; (149(6)):1949-1957 doi:10.1016/j.jaci.2022.04.002.

Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance.

Szczawińska-Popłonyk A, Bernat-Sitarz K, Schwartzmann E, et al.

Allergologia et immunopathologia 2022; (50(4)):1-9 doi:10.15586/aei.v50i4.510.

Response to mRNA COVID-19 vaccination in three XLA patients.

Squire JD, Joshi AY

Vaccine 2022; (40(36)):5299-5301 doi:10.1016/j.vaccine.2022.07.046.

Meningoencephalitis in primary antibody deficiency: Our experience from northwest India.

Jindal AK, Chaudhary H, Tyagi R, et al.

Journal of neuroimmunology 2022; (371()):577952 doi:10.1016/j.jneuroim.2022.577952.

Reactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.

Göschl L, Mrak D, Grabmeier-Pfistershammer K, et al.

Frontiers in immunology 2022; (13()):974987 doi:10.3389/fimmu.2022.974987.

X-Linked Agammaglobulinemia Leading to Chronic Obstructive Lung Disease.

Bean P, Jani P

Cureus 2022; (14(12)):e32470 doi:10.7759/cureus.32470.

Use of immunoglobulin replacement therapy in patients with secondary antibody deficiency in daily practice: a European expert Q&A-based review.

Cinetto F, Francisco IE, Fenchel K, et al.

Expert review of hematology 2023; (16(4)):237-243 doi:10.1080/17474086.2023.2176843.

SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients.

Raphael A, Shamriz O, Tvito A, et al.

Frontiers in immunology 2023; (14()):1156823 doi:10.3389/fimmu.2023.1156823.

Management of humoral secondary immunodeficiency in hematological malignancies and following hematopoietic stem cell transplantation: Regional perspectives.

Ar MC, El Fakih R, Gabbassova S, et al.

Leukemia research 2023; (133()):107365 doi:10.1016/j.leukres.2023.107365.

Respiratory infectious burden in a cohort of antibody deficiency patients treated with immunoglobulin replacement therapy: The impact of lung pathology and gastroesophageal reflux disease.

Cutajar J, Gkrania-Klotsas E, Sander C, et al.

The journal of allergy and clinical immunology. Global 2023; (2(4)):100133 doi:10.1016/j.jacig.2023.100133.

Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia.

Miskovic R, Ljubicic J, Bonaci-Nikolic B, et al.

Frontiers in immunology 2024; (15()):1324679 doi:10.3389/fimmu.2024.1324679.

Severe Tick-Borne Encephalitis (TBE) in a Patient with X-Linked Agammaglobulinemia; Treatment with TBE Virus IgG Positive Plasma, Clinical Outcome and T Cell Responses.

Hedin W, Bergman P, Akhirunessa M, et al.

Journal of clinical immunology 2024; (44(5)):116 doi:10.1007/s10875-024-01718-5.

Primary antibody deficiencies.

Nguyen AT, Aquino MR

Allergy and asthma proceedings 2024; (45(5)):310-316 doi:10.2500/aap.2024.45.240052.

Contribution of immunoglobulin products in influencing seasonal influenza infection and severity in antibody immune deficiency patients receiving immunoglobulin replacement therapy.

Ballow M, Ortiz-de-Lejarazu R, Quinti I, et al.

Frontiers in immunology 2024; (15()):1452106 doi:10.3389/fimmu.2024.1452106.

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Knox AVC, Cominsky LY, Sun D, et al.

Blood 2025; (145(22)):2549-2560 doi:10.1182/blood.2024026683.

Effect of chemoradiotherapy on the dynamics of circulating lymphocyte subsets in patients with non-metastatic nasopharyngeal carcinoma.

Yi L, Gu Y, Guo L, et al.

Frontiers in oncology 2025; (15()):1521836 doi:10.3389/fonc.2025.1521836.

Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia.

Daddali R, Kettunen K, Turunen T, et al.

Clinical immunology (Orlando, Fla.) 2025; (277()):110503 doi:10.1016/j.clim.2025.110503.

Atypical lymphoproliferations associated with germline genetic variants: a report of the 2024 EA4HP/SH lymphoma workshop.

van den Brand M, Rásó-Barnett L, Gasljevic G, et al.

Virchows Archiv : an international journal of pathology 2025; (487(2)):275-286 doi:10.1007/s00428-025-04189-0.

Pocapavir treatment of enterovirus encephalitis in a patient with X-linked Agammaglobulinemia.

Soresina A, Galli J, Bellicini I, et al.

Clinical immunology (Orlando, Fla.) 2025; (281()):110592 doi:10.1016/j.clim.2025.110592.

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.

Case Report: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia.

Peng Q, Deng M, Zeng X, et al.

Frontiers in immunology 2025; (16()):1716208 doi:10.3389/fimmu.2025.1716208.

Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights.

Napiorkowska-Baran K, Cofta S, Treichel P, et al.

Life (Basel, Switzerland) 2025; (15(12)) doi:10.3390/life15121838.

A novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl.

Wu P, Zhao J, Yu Z, et al.

BMC pediatrics 2026; (26(1)).

Quality of life of X-linked agammaglobulinemia patients in the United Kingdom.

Shillitoe B, Bourne H, Stroud C, et al.

Journal of human immunity 2026; (2(3)):e20250198 doi:10.70962/jhi.20250198.

Severe Polymicrobial Pneumonia With Septicemia After Interruption of Immunoglobulin Replacement in X-Linked Agammaglobulinemia: A Case Report.

Tran HD, Vo QH, Nguyen NP

Case reports in immunology 2026; (2026()):7974374 doi:10.1155/crii/7974374.

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.