Research & Literature

[X-linked agammaglobulinemia: experience in a Portuguese hospital].

Fernandes A, Guedes M, Vasconcelos J, et al.

Anales de pediatria (Barcelona, Spain : 2003) 2015; (82(3)):166-71.

Facilitated subcutaneous immunoglobulin (fSCIg) therapy--practical considerations.

Ponsford M, Carne E, Kingdon C, et al.

Clinical and experimental immunology 2015; (182(3)):302-13 doi:10.1111/cei.12694.

Safety of intravenous immunoglobulin in the elderly treated for a dysimmune neuromuscular disease.

Lozeron P, Not A, Theaudin M, et al.

Muscle & nerve 2016; (53(5)):683-9 doi:10.1002/mus.24942.

X-linked Agammaglobulinemia With Normal Immunoglobulin and Near-Normal Vaccine Seroconversion.

Preece K, Lear G

Pediatrics 2015; (136(6)):e1621-4 doi:10.1542/peds.2014-3907.

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.

Aadam Z, Kechout N, Barakat A, et al.

Journal of clinical immunology 2016; (36(3)):187-94 doi:10.1007/s10875-016-0251-z.

Cellular and humoral influenza-specific immune response upon vaccination in patients with common variable immunodeficiency and unclassified antibody deficiency.

Hanitsch LG, Löbel M, Mieves JF, et al.

Vaccine 2016; (34(21)):2417-2423 doi:10.1016/j.vaccine.2016.03.091.

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.

Vaccination in Primary Immunodeficiency Disorders.

Sobh A, Bonilla FA

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1066-1075 doi:10.1016/j.jaip.2016.09.012.

[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.

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.

Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center.

Pac M, Bernatowska EA, Kierkuś J, et al.

Archives of medical science : AMS 2017; (13(2)):412-417 doi:10.5114/aoms.2016.60338.

Specific Antibody Deficiency: Controversies in Diagnosis and Management.

Perez E, Bonilla FA, Orange JS, Ballow M

Frontiers in immunology 2017; (8()):586 doi:10.3389/fimmu.2017.00586.

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.

Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.

Silva P, Justicia A, Regueiro A, et al.

Genes and immunity 2017; (18(3)):197-199 doi:10.1038/gene.2017.14.

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.

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

Carrillo-Tapia E, García-García E, Herrera-González NE, et al.

Expert review of clinical immunology 2018; (14(1)):83-93 doi:10.1080/1744666X.2018.1413349.

Poliovirus excretion following vaccination with live poliovirus vaccine in patients with primary immunodeficiency disorders: clinicians' perspectives in the endgame plan for polio eradication.

Galal NM, Meshaal S, ElHawary R, et al.

BMC research notes 2018; (11(1)):717 doi:10.1186/s13104-018-3822-7.

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing.

Sanford E, Farnaes L, Batalov S, et al.

Cold Spring Harbor molecular case studies 2018; (4(6)) doi:10.1101/mcs.a003244.

An essential role for the Zn2+ transporter ZIP7 in B cell development.

Anzilotti C, Swan DJ, Boisson B, et al.

Nature immunology 2019; (20(3)):350-361 doi:10.1038/s41590-018-0295-8.

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L, Bustamante J, Casanova JL, et al.

Journal of clinical immunology 2019; (39(4)):376-390 doi:10.1007/s10875-019-00642-3.

An update on X-Linked agammaglobulinaemia: clinical manifestations and management.

Shillitoe BMJ, Gennery AR

Current opinion in allergy and clinical immunology 2019; (19(6)):571-577 doi:10.1097/ACI.0000000000000584.

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.

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.

Ben-Ali M, Kechout N, Mekki N, et al.

Journal of clinical immunology 2020; (40(1)):96-104 doi:10.1007/s10875-019-00706-4.

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.

The influence of hospital-based intravenous immunoglobulin and home-based self-administrated subcutaneous immunoglobulin therapy in young children with primary immunodeficiency diseases on their parents' / caregivers' satisfaction.

Lechanska-Helman J, Sobocinska A, Jerzynska J, Stelmach I

Pediatrics international : official journal of the Japan Pediatric Society 2020; (62(3)):316-318 doi:10.1111/ped.14119.

[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers].

Matos-Benavides E, García-Gomero D, Inocente-Malpartida R, et al.

Revista peruana de medicina experimental y salud publica 2019; (36(4)):664-669 doi:10.17843/rpmesp.2019.364.4311.

Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.

Fekrvand S, Yazdani R, Olbrich P, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2020; (31(4)):405-417 doi:10.1111/pai.13228.

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.

Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.

Pashangzadeh S, Yazdani R, Nazari F, et al.

Endocrine, metabolic & immune disorders drug targets 2020; (20(9)):1434-1447 doi:10.2174/1871530320666200508114349.

B Cell Disorders in Children-Part I.

Gilchrist B, Dolen WK

Current allergy and asthma reports 2020; (20(9)):52 doi:10.1007/s11882-020-00938-0.

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.

B Cell Disorders in Children: Part II.

Griffin DD, Dolen WK

Current allergy and asthma reports 2020; (20(11)):64 doi:10.1007/s11882-020-00963-z.

Increased Respiratory Viral Detection and Symptom Burden Among Patients with Primary Antibody Deficiency: Results from the BIPAD Study.

Ponsford MJ, Price C, Farewell D, et al.

The journal of allergy and clinical immunology. In practice 2021; (9(2)):735-744.e6 doi:10.1016/j.jaip.2020.08.016.

Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia.

Inoue K, Sasaki S, Yasumi T, et al.

Journal of clinical immunology 2020; (40(8)):1132-1137 doi:10.1007/s10875-020-00830-6.

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.

Yeh YH, Hsieh MY, Lee WI, et al.

Frontiers in immunology 2020; (11()):2001 doi:10.3389/fimmu.2020.02001.

Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis.

Cinicola B, Uva A, Leonardi L, et al.

Frontiers in immunology 2020; (11()):582376 doi:10.3389/fimmu.2020.582376.

Ecthyma gangrenosum due to Pseudomonas aeruginosa sepsis as initial manifestation of X-linked agammaglobulinemia: a case report.

Huang H, Bai K, Fu Y, et al.

BMC pediatrics 2020; (20(1)):540 doi:10.1186/s12887-020-02436-8.

Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.

Chen X, Liu F, Yuan L, et al.

Molecular genetics & genomic medicine 2021; (9(1)):e1552 doi:10.1002/mgg3.1552.

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

Rawat A, Jindal AK, Suri D, et al.

Frontiers in immunology 2020; (11()):612323 doi:10.3389/fimmu.2020.612323.

Next-generation sequencing for inborn errors of immunity.

Lee K, Abraham RS

Human immunology 2021; (82(11)):871-882 doi:10.1016/j.humimm.2021.02.011.

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.

Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia.

Paccoud O, Mahlaoui N, Moshous D, et al.

Journal of clinical immunology 2021; (41(6)):1266-1271 doi:10.1007/s10875-021-01043-1.

Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.

Engelbrecht C, Urban M, Schoeman M, et al.

Frontiers in immunology 2021; (12()):665621 doi:10.3389/fimmu.2021.665621.

[Intravenous immunoglobulin replacement therapy in 114 cases of congenital agammaglobulinemia].

Li YW, Chen H, Zhang Y, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2021; (59(6)):495-500 doi:10.3760/cma.j.cn112140-20201016-00950.

Vaccination in PADs.

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

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

Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases.

Szczawinska-Poplonyk A, Begier K, Dorota A, et al.

Allergologia et immunopathologia 2021; (49(4)):117-136 doi:10.15586/aei.v49i4.200.

Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.

Cardenas-Morales M, Hernandez-Trujillo VP

Clinical reviews in allergy & immunology 2022; (63(1)):22-35 doi:10.1007/s12016-021-08870-5.

X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature.

Lanlokun M, Borden A, Nieves D, et al.

Frontiers in pediatrics 2021; (9()):633692 doi:10.3389/fped.2021.633692.

Streptococcal pneumonia meningitis as an initial presentation of X-linked agammaglobulinemia: A case report and discussion.

Kadden D, Fowler G, Engel E, et al.

Journal of the American College of Emergency Physicians open 2021; (2(5)):e12553 doi:10.1002/emp2.12553.

Cost Utility of Lifelong Immunoglobulin Replacement Therapy vs Hematopoietic Stem Cell Transplant to Treat Agammaglobulinemia.

Sun D, Heimall JR, Greenhawt MJ, et al.

JAMA pediatrics 2022; (176(2)):176-184 doi:10.1001/jamapediatrics.2021.4583.

Mendelian susceptibility to mycobacterial disease in tuberculosis-hyperendemic South Africa.

Cornelissen HM, Glanzmann B, Van Coller A, et al.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2021; (111(10)):998-1005 doi:10.7196/SAMJ.2021.v111i10.15341.

Pharmacokinetic modeling and simulation of subcutaneous and intravenous IgG dosing in patients with primary immunodeficiency diseases.

Navarro-Mora G, Alberti JJ, Mondou E, et al.

International immunopharmacology 2022; (104()):108472 doi:10.1016/j.intimp.2021.108472.

X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.

O'Toole D, Groth D, Wright H, et al.

Journal of clinical immunology 2022; (42(4)):827-836 doi:10.1007/s10875-022-01237-1.

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.

Topyildiz E, Edeer Karaca N, Aygun A, et al.

Case reports in immunology 2022; (2022()):7313009 doi:10.1155/2022/7313009.

Risk Factors of Pneumonia in Primary Antibody Deficiency Patients Receiving Immunoglobulin Therapy: Data from the US Immunodeficiency Network (USIDNET).

Syed MN, Kutac C, Miller JM, et al.

Journal of clinical immunology 2022; (42(7)):1545-1552 doi:10.1007/s10875-022-01317-2.

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.

A clinician's guide for administration of high-concentration and facilitated subcutaneous immunoglobulin replacement therapy in patients with primary immunodeficiency diseases.

Epland K, Suez D, Paris K

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022; (18(1)):87 doi:10.1186/s13223-022-00726-7.

Adverse Reactions Associated with Intravenous Immunoglobulin Administration in the Treatment of Neurological Disorders: A Systematic Review.

Jiang M, Kimber JS, Gupta A, et al.

International archives of allergy and immunology 2023; (184(6)):513-528 doi:10.1159/000529110.

A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA.

Hernandez-Trujillo V, Zhou C, Scalchunes C, et al.

Journal of clinical immunology 2023; (43(6)):1468-1477 doi:10.1007/s10875-023-01502-x.

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.

Chear CT, Ismail IH, Chan KC, et al.

Frontiers in immunology 2023; (14()):1252765 doi:10.3389/fimmu.2023.1252765.

Cellular immune response to SARS-CoV-2 in patients with primary antibody deficiencies.

Mizera D, Dziedzic R, Drynda A, et al.

Frontiers in immunology 2023; (14()):1275892 doi:10.3389/fimmu.2023.1275892.

Pulmonary Computed Tomography Screening Frequency in Primary Antibody Deficiency.

Smits BM, Boland SL, Hol ME, et al.

The journal of allergy and clinical immunology. In practice 2024; (12(4)):1037-1048.e3 doi:10.1016/j.jaip.2023.12.047.

Immunoglobulin replacement therapies in inborn errors of immunity: a review.

Sil A, Basu S, Joshi V, et al.

Frontiers in pediatrics 2024; (12()):1368755 doi:10.3389/fped.2024.1368755.

Acute Aseptic Meningitis Temporally Associated with Intravenous Polyclonal Immunoglobulin Therapy: A Systematic Review.

De Felice ELT, Toti GF, Gatti B, et al.

Clinical reviews in allergy & immunology 2024; (66(2)):241-249 doi:10.1007/s12016-024-08989-1.

Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia.

Kanamori T, Udagawa T, Fujii T, et al.

Journal of clinical immunology 2024; (44(7)):164 doi:10.1007/s10875-024-01766-x.

Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort.

Yalcin Gungoren E, Yorgun Altunbas M, Dikici U, et al.

Journal of clinical immunology 2024; (44(8)):169 doi:10.1007/s10875-024-01771-0.

Infusion parameters, safety, and practical guidance for the manual administration of subcutaneous immunoglobulin 20% (Ig20Gly).

Grosse-Kreul D, Allen C, Kalicinsky C, Keith PK

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2024; (20(1)):52 doi:10.1186/s13223-024-00914-7.

Disparities in Diagnosis, Access to Specialist Care and Treatment for Inborn Errors of Immunity.

Lawrence MG, Rider NL, Cunningham-Rundles C, Poli MC

The journal of allergy and clinical immunology. In practice 2023; doi:10.1016/j.jaip.2023.10.041.

Outcomes of X-Linked Agammaglobulinaemia Patients.

Shillitoe B, Duque JSR, Lai SHY, et al.

Journal of clinical immunology 2024; (45(1)):40.

Single Mutation Different Clinical Findings: IGLL1 Defect.

Naiboğlu S, Gezdirici A, Ulaş S, et al.

Iranian journal of allergy, asthma, and immunology 2024; (23(4)):452-456 doi:10.18502/ijaai.v23i4.16218.

Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunity.

Giardino G, Di Matteo G, Giliani S, et al.

The Journal of allergy and clinical immunology 2025; (155(4)):1149-1160 doi:10.1016/j.jaci.2024.11.030.

Immunoglobulin replacement therapy in patients with primary and secondary immunodeficiencies: impact of infusion method on immunoglobulin-specific perceptions of quality of life and treatment satisfaction.

Mallick R, Hahn N, Scalchunes C

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2025; (21(1)):2 doi:10.1186/s13223-024-00939-y.

Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients.

Kindle G, Alligon M, Albert MH, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.02.20.25322586.

Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.

Chin AT, Ochs HD, Kobayashi R, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(10)):2806-2816.e6 doi:10.1016/j.jaip.2025.06.025.

"It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.

Clark A, DeBortoli E, Blancoe M, et al.

European journal of human genetics : EJHG 2025; (33(10)):1342-1349 doi:10.1038/s41431-025-01917-7.

Infection prevention in patients with inborn errors of immunity: Insights from Japan's nationwide study.

Yao Z, Kido T, Hosaka S, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2025; (67(1)):e70093 doi:10.1111/ped.70093.

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.

Blom M, Duintjer AJ, Jamee M, et al.

Journal of clinical immunology 2025; (45(1)):125.

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.

Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia.

Shamakhi A, Dhayhi N, Matabi S, et al.

The American journal of case reports 2025; (26()):e949936 doi:10.12659/AJCR.949936.

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.

Immunoglobulin disorders in pediatric chronic rhinosinusitis.

Lewandrowski C, Peppers BP, Makary CA

Current opinion in allergy and clinical immunology 2026; (26(1)):1-6 doi:10.1097/ACI.0000000000001135.

Characteristics of adverse events and clinical risks of intravenous immunoglobulin: a pharmacovigilance study based on FDA Adverse Event Reporting System (FAERS).

Lu Z, Lu X, Gao Y, et al.

Frontiers in medicine 2025; (12()):1724196 doi:10.3389/fmed.2025.1724196.

Diagnostic workflow for X-linked agammaglobulinemia integrating BTK expression and B-cell maturation analysis by flow cytometry.

Igonina M, Malakhova E, Fadeeva M, et al.

Cytometry. Part B, Clinical cytometry 2026; doi:10.1002/cyto.b.70038.

A case report of X-linked agammaglobulinemia complicated with necrotic pneumonia.

Zhang X, Zhu J

Translational pediatrics 2026; (15(4)):160 doi:10.21037/tp-2025-353.

Multidisciplinary approach to early identification of inborn errors of immunity in patients with lymphoproliferation.

Alsina L, Celis Passini V, Garrido Colino C, et al.

Leukemia & lymphoma 2026; (67(11)):2192-2205 doi:10.1080/10428194.2026.2704265.

Clinical and genetic characterization of X-linked agammaglobulinemia in a Colombian cohort.

Olaya Hernández M, Triviño Arias J, Arias Valderrama O, et al.

The World Allergy Organization journal 2026; (19(9)):101441 doi:10.1016/j.waojou.2026.101441.