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.

Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy.

Bearden D, Collett M, Quan PL, et al.

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1059-1065 doi:10.1016/j.jaip.2015.12.015.

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.

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 Manifestations in X-linked Agammaglobulinemia.

Barmettler S, Otani IM, Minhas J, et al.

Journal of clinical immunology 2017; (37(3)):287-294 doi:10.1007/s10875-017-0374-x.

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.

Common Variable Immunodeficiency and Liver Involvement.

Song J, Lleo A, Yang GX, et al.

Clinical reviews in allergy & immunology 2018; (55(3)):340-351 doi:10.1007/s12016-017-8638-z.

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.

Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan.

Qureshi S, Sheikh MDA, Qamar FN

Clinical immunology (Orlando, Fla.) 2019; (198()):100-101 doi:10.1016/j.clim.2018.07.016.

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.

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.

Schütz K, Alecsandru D, Grimbacher B, et al.

Journal of clinical immunology 2019; (39(1)):45-54 doi:10.1007/s10875-018-0577-9.

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.

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.

El-Sayed ZA, Abramova I, Aldave JC, et al.

The World Allergy Organization journal 2019; (12(3)):100018 doi:10.1016/j.waojou.2019.100018.

Factors Beyond Lack of Antibody Govern Pulmonary Complications in Primary Antibody Deficiency.

Weinberger T, Fuleihan R, Cunningham-Rundles C, Maglione PJ

Journal of clinical immunology 2019; (39(4)):440-447 doi:10.1007/s10875-019-00640-5.

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.

Iatrogenic antibody deficiency from B-cell targeted therapies in autoimmune rheumatic diseases.

Wijetilleka S, Jayne D, Mukhtyar C, Karim MY

Lupus science & medicine 2019; (6(1)):e000337 doi:10.1136/lupus-2019-000337.

A Novel BTK Gene Mutation in a Child With Atypical X-Linked Agammaglobulinemia and Recurrent Hemophagocytosis: A Case Report.

Han SP, Lin YF, Weng HY, et al.

Frontiers in immunology 2019; (10()):1953 doi:10.3389/fimmu.2019.01953.

[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.

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Kwon WK, Choi S, Kim HJ, et al.

Allergy, asthma & immunology research 2020; (12(2)):292-305 doi:10.4168/aair.2020.12.2.292.

Correlations Among Subcutaneous Immunoglobulin Dosage, Immunoglobulin G Serum Pre-infusional Levels and Body Mass Index in Primary Antibody Deficiency Patients: A Pooled Analysis from the SHIFT/IBIS Studies.

Pecoraro A, Ricci S, Vultaggio A, et al.

Clinical drug investigation 2020; (40(3)):279-286 doi:10.1007/s40261-020-00885-8.

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.

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.

Rivière JG, Franco-Jarava C, Martínez-Gallo M, et al.

Frontiers in immunology 2020; (11()):46 doi:10.3389/fimmu.2020.00046.

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.

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.

Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover.

Soresina A, Moratto D, Chiarini M, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2020; (31(5)):565-569 doi:10.1111/pai.13263.

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.

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.

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.

Hanitsch L, Baumann U, Boztug K, et al.

European journal of immunology 2020; (50(10)):1432-1446 doi:10.1002/eji.202048713.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.

Saettini F, Poli C, Vengoechea J, et al.

Blood 2021; (137(4)):493-499 doi:10.1182/blood.2020006441.

The Development of a New Questionnaire to Measure the Burden of Immunoglobulin Treatment in Patients with Primary Immunodeficiencies: The IgBoT-35.

Jones GL, Williams K, Edmondson-Jones M, et al.

Patient preference and adherence 2020; (14()):1567-1584 doi:10.2147/PPA.S234669.

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.

Infection Phenotypes Among Patients with Primary Antibody Deficiency Mined from a US Patient Registry.

Pickett G, Motazedi T, Kutac C, et al.

Journal of clinical immunology 2021; (41(2)):374-381 doi:10.1007/s10875-020-00916-1.

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.

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.

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.

Vaccination in PADs.

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

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

Common Variable Immunodeficiency and Autoimmune Diseases: A Retrospective Study of 95 Adult Patients in a Single Tertiary Care Center.

Mormile I, Punziano A, Riolo CA, et al.

Frontiers in immunology 2021; (12()):652487 doi:10.3389/fimmu.2021.652487.

An X-linked agammaglobulinemia (XLA) patient with fever and disturbance of consciousness: infection with Torque teno virus?

Liu H, Zhao J, Yang L, et al.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2022; (115()):26-29 doi:10.1016/j.ijid.2021.11.041.

Clinical, immunological and genomic characteristics of children with X-linked agammaglobulinemia from Kerala, South India.

Madathil Govindaraj G, Jain A, Edavazhippurath A, et al.

Human immunology 2022; (83(4)):335-345 doi:10.1016/j.humimm.2022.01.003.

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.

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.

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J, Modell V, Johnson B, et al.

Frontiers in immunology 2022; (13()):906540 doi:10.3389/fimmu.2022.906540.

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.

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.

Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report.

Wong YX, Shyur SD

Medicina (Kaunas, Lithuania) 2022; (58(10)) doi:10.3390/medicina58101457.

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.

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.

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.

Psychosocial Evaluation of Adults with Primary Immunodeficiency.

Gumusburun R, Altay S, Cengiz H, et al.

Journal of clinical immunology 2024; (44(3)):71 doi:10.1007/s10875-024-01671-3.

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Khoshnevisan R, Hassanzadeh S, Klein C, et al.

Immunogenetics 2024; (76(3)):189-202 doi:10.1007/s00251-024-01342-y.

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.

Yu L, Zhang Y, Li W, et al.

Journal of clinical immunology 2024; (44(6)):137 doi:10.1007/s10875-024-01740-7.

Impaired B-cell function in ERCC2 deficiency.

Rossmanith R, Sauerwein K, Geier CB, et al.

Frontiers in immunology 2024; (15()):1423141 doi:10.3389/fimmu.2024.1423141.

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Utsumi T, Tsumura M, Yashiro M, et al.

Journal of clinical immunology 2024; (44(7)):167 doi:10.1007/s10875-024-01758-x.

Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection.

Sil A, Basu S, Arora K, et al.

Journal of clinical immunology 2024; (44(8)):187 doi:10.1007/s10875-024-01792-9.

Immunoglobulin therapy for immunodeficiency.

Wilson BE, Freeman CM

Allergy and asthma proceedings 2024; (45(5)):364-370 doi:10.2500/aap.2024.45.240053.

Rational use of immunoglobulins (IVIgs and SCIgs) in secondary antibody deficiencies.

Goede JS, Baumann CK, Cathomas R, et al.

Swiss medical weekly 2024; (154()):3559 doi:10.57187/s.3559.

Outcomes of X-Linked Agammaglobulinaemia Patients.

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

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

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.

Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia - A Retrospective Multicenter Study.

Stenlander C, Lindahl H, Wahren-Borgström E, et al.

Journal of clinical immunology 2025; (45(1)):161.

Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation.

NoorSaeed SM, Alrafiaah AS, Alghamdi M, et al.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2025; (22(1)):4 doi:10.1186/s13223-025-01002-0.

A rare cause of cellulitis and bacteremia by Achromobacter xylosoxidans in a patient with X-linked agammaglobulinemia: a case report.

Wagle L, Aryal E, Bruges P, et al.

Annals of medicine and surgery (2012) 2025; (87(12)):8940-8943 doi:10.1097/MS9.0000000000004093.

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 rare case of TCF3-related agammaglobulinemia in a child with recurrent Haemophilus influenzae bacteremia.

Fang Y, Dubrocq G

Proceedings (Baylor University. Medical Center) 2026; (39(1)):152-154 doi:10.1080/08998280.2025.2552088.

Vulnerability beyond infection: Effects of peer victimization on quality of life and psychosocial well-being in inborn errors of immunity.

Meric Z, Durcan G, Coban ZB, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(3)):e70318 doi:10.1111/pai.70318.

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.

Adult Sibling Cases of Cutaneous Botryomycosis Leading to the Diagnosis of X-Linked Agammaglobulinemia.

Takeuchi M, Kaku Y, Hashikawa K, et al.

The American Journal of dermatopathology 2026; (48(8)):632-636 doi:10.1097/DAD.0000000000003306.

Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort.

Marangu-Boore D, Myint-Hpu K, Kang E, et al.

Journal of clinical immunology 2026; (46(1)).

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.

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.

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.

Frequency of depression and anxiety in patients with inborn errors of immunity: a cross-sectional study.

Wolff LJ, Witte T, Kahl KG, et al.

BMC psychiatry 2026; (26(1)).