Research & Literature

Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.

Siggs OM, Stockenhuber A, Deobagkar-Lele M, et al.

Proceedings of the National Academy of Sciences of the United States of America 2016; (113(26)):E3706-15 doi:10.1073/pnas.1607592113.

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.

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.

Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.

Slatter MA, Rao K, Abd Hamid IJ, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018; (24(3)):529-536 doi:10.1016/j.bbmt.2017.11.009.

Prevalence and Progression of Late Gadolinium Enhancement in Children and Adolescents With Hypertrophic Cardiomyopathy.

Axelsson Raja A, Farhad H, Valente AM, et al.

Circulation 2018; (138(8)):782-792 doi:10.1161/CIRCULATIONAHA.117.032966.

Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events.

Maurizi N, Passantino S, Spaziani G, et al.

JAMA cardiology 2018; (3(6)):520-525 doi:10.1001/jamacardio.2018.0789.

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.

Disopyramide as rescue treatment in a critically ill infant with obstructive hypertrophic cardiomyopathy refractory to beta blockers.

Rodriguez-Gonzalez M, Castellano-Martinez A, Grujic B, Prieto-Heredia MA

Journal of cardiology cases 2017; (15(6)):209-213 doi:10.1016/j.jccase.2017.03.004.

Update on Advances in Hematopoietic Cell Transplantation for Primary Immunodeficiency Disorders.

Shamriz O, Chandrakasan S

Immunology and allergy clinics of North America 2019; (39(1)):113-128 doi:10.1016/j.iac.2018.08.003.

Mismatched related vs matched unrelated donors in TCRαβ/CD19-depleted HSCT for primary immunodeficiencies.

Laberko A, Sultanova E, Gutovskaya E, et al.

Blood 2019; (134(20)):1755-1763 doi:10.1182/blood.2019001757.

Folliculin Interacting Protein 1 Maintains Metabolic Homeostasis during B Cell Development by Modulating AMPK, mTORC1, and TFE3.

Ramírez JA, Iwata T, Park H, et al.

Journal of immunology (Baltimore, Md. : 1950) 2019; (203(11)):2899-2908 doi:10.4049/jimmunol.1900395.

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.

Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.

Niehues T, Özgür TT, Bickes M, et al.

European journal of immunology 2020; (50(7)):1078-1080 doi:10.1002/eji.201948504.

Combined right and left ventricular mechanical dispersion enhance the arrhythmic risk stratification in hypertrophic cardiomyopathy.

Popa-Fotea NM, Micheu MM, Onciul S, et al.

Journal of cardiology 2020; (76(4)):364-370 doi:10.1016/j.jjcc.2020.04.009.

Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia.

Olaya M, Franco A, Chaparro M, et al.

Journal of clinical immunology 2020; (40(8)):1116-1123 doi:10.1007/s10875-020-00856-w.

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.

Newer risk assessment strategies in hypertrophic cardiomyopathy.

Chaudhry-Waterman N, Cohen MI

Current opinion in cardiology 2021; (36(1)):80-88 doi:10.1097/HCO.0000000000000804.

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: 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.

Crohn's-like Enteritis in X-Linked Agammaglobulinemia: A Case Series and Systematic Review.

Khan F, Person H, Dekio F, et al.

The journal of allergy and clinical immunology. In practice 2021; (9(9)):3466-3478 doi:10.1016/j.jaip.2021.04.070.

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.

Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia.

Shillitoe BMJ, Ponsford M, Slatter MA, et al.

Journal of clinical immunology 2021; (41(7)):1574-1581 doi:10.1007/s10875-021-01088-2.

Hypertrophic Cardiomyopathy in Infants from the Perspective of Cardiomyocyte Maturation.

Seok H, Oh JH

Korean circulation journal 2021; (51(9)):733-751 doi:10.4070/kcj.2021.0153.

[Centers for rare diseases-Structures, tasks and networks].

Hebestreit H

Gefasschirurgie : Zeitschrift fur vaskulare und endovaskulare Chirurgie : Organ der Deutschen und der Osterreichischen Gesellschaft fur Gefasschirurgie unter Mitarbeit der Schweizerischen Gesellschaft fur Gefasschirurgie 2021; (26(8)):577-582 doi:10.1007/s00772-021-00813-w.

Family screening of hypertrophic cardiomyopathy in children: a case report.

Voges I, Latus H

European heart journal. Case reports 2022; (6(9)):ytac360 doi:10.1093/ehjcr/ytac360.

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.

Transition of care in inborn errors of immunity.

Tadros S, Burns SO

Current opinion in allergy and clinical immunology 2023; (23(6)):455-460 doi:10.1097/ACI.0000000000000948.

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.

Chronic neutropenia in childhood: experience of a tertiary center.

Matushita L, Valera ET, Aragon DC, et al.

Jornal de pediatria 2024; (100(3)):311-317 doi:10.1016/j.jped.2023.12.003.

Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant.

Ulaş S, Naiboğlu S, Özyilmaz İ, et al.

Journal of pediatric hematology/oncology 2024; (46(6)):e472-e475 doi:10.1097/MPH.0000000000002862.

Medical Therapies to Improve Left Ventricular Outflow Obstruction and Diastolic Function in Hypertrophic Cardiomyopathy.

Zhu M, Reyes KRL, Bilgili G, et al.

JACC. Advances 2023; (2(8)):100622 doi:10.1016/j.jacadv.2023.100622.

Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study.

Ahamed H, Varghese S, Gutajahr G, et al.

Archives of disease in childhood 2024; (109(11)):913-917 doi:10.1136/archdischild-2023-326094.

Health-related quality of life in patients with inborn errors of immunity: A systematic review and meta-analysis.

Xiao N, Huang X, Yang D, et al.

Preventive medicine 2024; (186()):108079 doi:10.1016/j.ypmed.2024.108079.

Discontinuation of afterload-reducing drugs decreases left ventricular outflow tract obstruction in hypertrophic obstructive cardiomyopathy.

Derda AA, Abelmann M, Sonnenschein K, et al.

Frontiers in cardiovascular medicine 2024; (11()):1403422 doi:10.3389/fcvm.2024.1403422.

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.

Spivak I, Lev A, Simon AJ, et al.

Immunogenetics 2024; (77(1)):2 doi:10.1007/s00251-024-01359-3.

Integrative Approaches in the Management of Hypertrophic Cardiomyopathy: A Comprehensive Review of Current Therapeutic Modalities.

Dicorato MM, Citarelli G, Mangini F, et al.

Biomedicines 2025; (13(5)) doi:10.3390/biomedicines13051256.

Case Report: Hematopoietic stem cell transplantation in an adult patient with X-linked agammaglobulinemia and severe refractory enteropathy.

López-León PT, Cabañero-Navalon MD, Garcia-Bustos V, et al.

Frontiers in immunology 2025; (16()):1662016 doi:10.3389/fimmu.2025.1662016.

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.

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.

Obstructive hypertrophic cardiomyopathy: pathophysiology and diagnosis.

Marques Antunes M, Viegas JM, Vaz Ferreira V, et al.

Indian journal of thoracic and cardiovascular surgery 2026; (42(2)):155-167 doi:10.1007/s12055-025-02052-0.

Infantile hypertrophic cardiomyopathy masquerading as cardiac tamponade: A case report.

Sembiring TSR, Adam MF

SAGE open medical case reports 2026; (14()):2050313X261429629 doi:10.1177/2050313X261429629.

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.

Practice parameter for inborn errors of immunity: What is new in the 2025 update.

Chinen J, Horner CC, Orange JS

The Journal of allergy and clinical immunology 2026; (158(2)):368-373 doi:10.1016/j.jaci.2026.05.014.

Puberty-Associated Emergence of Hypertrophic Cardiomyopathy: When Genetics Meets Growth.

Mashiah G, Schamroth N, Yaeger-Yarom G, et al.

JACC. Case reports 2026; (31(23)):108152 doi:10.1016/j.jaccas.2026.108152.

Medical management of hypertrophic cardiomyopathy.

Gupta MD, Goel V, Girish MP

Indian heart journal 2026; doi:10.1016/j.ihj.2026.06.005.

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.

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)).