Research & Literature

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Engelhardt KR, Gertz ME, Keles S, et al.

The Journal of allergy and clinical immunology 2015; (136(2)):402-12.

Advances in IL-21 biology - enhancing our understanding of human disease.

Tangye SG

Current opinion in immunology 2015; (34()):107-15.

A conserved sugar bridge connected to the WSXWS motif has an important role for transport of IL-21R to the plasma membrane.

Siupka P, Hamming OT, Kang L, et al.

Genes and immunity 2015; (16(6)):405-13 doi:10.1038/gene.2015.22.

Communitywide cryptosporidiosis outbreak associated with a surface water-supplied municipal water system--Baker City, Oregon, 2013.

DeSilva MB, Schafer S, Kendall Scott M, et al.

Epidemiology and infection 2016; (144(2)):274-84 doi:10.1017/S0950268815001831.

Common Variable Immunodeficiency.

Saikia B, Gupta S

Indian journal of pediatrics 2016; (83(4)):338-44 doi:10.1007/s12098-016-2038-x.

Advances of the interleukin-21 signaling pathway in immunity and angiogenesis.

Yuan MJ, Wang T

Biomedical reports 2016; (5(1)):3-6 doi:10.3892/br.2016.665.

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Ma CS, Wong N, Rao G, et al.

The Journal of experimental medicine 2016; (213(8)):1589-608 doi:10.1084/jem.20151467.

Clinical Phenotypes of Hyper-IgM Syndromes.

de la Morena MT

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1023-1036 doi:10.1016/j.jaip.2016.09.013.

Limiting swimming pool outbreaks of cryptosporidiosis - the roles of regulations, staff, patrons and research.

Ryan U, Lawler S, Reid S

Journal of water and health 2017; (15(1)):1-16 doi:10.2166/wh.2016.160.

Activation of the FcgammaReceptorIIIa on human natural killer cells leads to increased expression of functional interleukin-21 receptor.

McMichael EL, Courtney NB, Duggan MC, et al.

Oncoimmunology 2017; (6(5)):e1312045 doi:10.1080/2162402X.2017.1312045.

Foodborne cryptosporidiosis.

Ryan U, Hijjawi N, Xiao L

International journal for parasitology 2018; (48(1)):1-12 doi:10.1016/j.ijpara.2017.09.004.

Risk Factors and Spatial Clusters of Cryptosporidium Infection among School-Age Children in a Rural Region of Eastern China.

Zheng H, He J, Wang L, et al.

International journal of environmental research and public health 2018; (15(5)) doi:10.3390/ijerph15050924.

Clinical, environmental, and behavioral characteristics associated with Cryptosporidium infection among children with moderate-to-severe diarrhea in rural western Kenya, 2008-2012: The Global Enteric Multicenter Study (GEMS).

Delahoy MJ, Omore R, Ayers TL, et al.

PLoS neglected tropical diseases 2018; (12(7)):e0006640 doi:10.1371/journal.pntd.0006640.

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

Haddad E, Logan BR, Griffith LM, et al.

Blood 2018; (132(17)):1737-1749 doi:10.1182/blood-2018-03-840702.

An Infant with Respiratory Distress and Loose Stools.

Reddy P, Laishram D, Jindal AK, et al.

Indian pediatrics 2018; (55(8)):693-697.

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.

Tandem Orthotopic Living Donor Liver Transplantation Followed by Same Donor Haploidentical Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.

Freeman AF, Yazigi N, Shah NN, et al.

Transplantation 2019; (103(10)):2144-2149 doi:10.1097/TP.0000000000002649.

Cryptosporidiosis Outbreaks - United States, 2009-2017.

Gharpure R, Perez A, Miller AD, et al.

MMWR. Morbidity and mortality weekly report 2019; (68(25)):568-572 doi:10.15585/mmwr.mm6825a3.

AGA Clinical Practice Update on Surveillance for Hepatobiliary Cancers in Patients With Primary Sclerosing Cholangitis: Expert Review.

Bowlus CL, Lim JK, Lindor KD

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019; (17(12)):2416-2422 doi:10.1016/j.cgh.2019.07.011.

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.

Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children.

Lee PP, Lao-Araya M, Yang J, et al.

Frontiers in immunology 2019; (10()):2189 doi:10.3389/fimmu.2019.02189.

Conditioning Perspectives for Primary Immunodeficiency Stem Cell Transplants.

Shaw P, Shizuru J, Hoenig M, et al.

Frontiers in pediatrics 2019; (7()):434 doi:10.3389/fped.2019.00434.

Regulation of the germinal center and humoral immunity by interleukin-21.

Tangye SG, Ma CS

The Journal of experimental medicine 2020; (217(1)) doi:10.1084/jem.20191638.

Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet).

Pulvirenti F, Sangerardi M, Plebani A, et al.

Journal of clinical immunology 2020; (40(2)):289-298 doi:10.1007/s10875-019-00725-1.

Phenotypically defined subpopulations of circulating follicular helper T cells in common variable immunodeficiency.

Yesillik S, Gupta S

Immunity, inflammation and disease 2020; (8(3)):441-446 doi:10.1002/iid3.326.

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Strand J, Gul KA, Erichsen HC, et al.

Frontiers in immunology 2020; (11()):1417 doi:10.3389/fimmu.2020.01417.

Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.

Platt CD, Zaman F, Bainter W, et al.

The Journal of allergy and clinical immunology 2021; (147(2)):723-726 doi:10.1016/j.jaci.2020.08.022.

Trough Concentrations of Specific Antibodies in Primary Immunodeficiency Patients Receiving Intravenous Immunoglobulin Replacement Therapy.

Hassin O, Abu Freih Y, Hazan R, et al.

Journal of clinical medicine 2021; (10(4)) doi:10.3390/jcm10040592.

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.

Cagdas D, Mayr D, Baris S, et al.

Journal of clinical immunology 2021; (41(6)):1272-1290 doi:10.1007/s10875-021-01031-5.

Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation.

Edeer Karaca N, Özek G, Ataseven E, et al.

Pediatric hematology and oncology 2021; (38(8)):745-752 doi:10.1080/08880018.2021.1924326.

Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.

Bayram O, Haskologlu S, Bayrakoğlu D, et al.

Journal of clinical immunology 2021; (41(7)):1563-1573 doi:10.1007/s10875-021-01062-y.

Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion.

Venegas-Montoya E, Staines-Boone AT, Sánchez-Sánchez LM, et al.

Frontiers in pediatrics 2021; (9()):635322 doi:10.3389/fped.2021.635322.

Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study.

Miyamoto S, Umeda K, Kurata M, et al.

Journal of clinical immunology 2021; (41(8)):1865-1877 doi:10.1007/s10875-021-01112-5.

Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort.

Lankester AC, Neven B, Mahlaoui N, et al.

The Journal of allergy and clinical immunology 2022; (149(5)):1744-1754.e8 doi:10.1016/j.jaci.2021.10.017.

Disseminated Cryptosporidiosis in an Infant with Non-HIV Pediatric Immunodeficiency: First Case Report from Oman.

Farsi TA, Weerakoon S, Mohsin J, et al.

Oman medical journal 2021; (36(6)):e326 doi:10.5001/omj.2021.44.

Atypical patterns of STAT3 phosphorylation in subpopulations B cells in patients with common variable immunodeficiency.

Olguin-Calderón D, Velásquez-Ortiz MG, Huerta-Robles HMR, et al.

Human immunology 2022; (83(5)):428-436 doi:10.1016/j.humimm.2022.01.013.

TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency.

Tsilifis C, Lum SH, Nademi Z, et al.

Journal of clinical immunology 2022; (42(4)):851-858 doi:10.1007/s10875-022-01239-z.

STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.

Pelham SJ, Caldirola MS, Avery DT, et al.

The Journal of allergy and clinical immunology 2022; (150(4)):931-946 doi:10.1016/j.jaci.2022.04.011.

Conditioning regimens for inborn errors of immunity: current perspectives and future strategies.

Nishimura A, Miyamoto S, Imai K, Morio T

International journal of hematology 2022; (116(1)):7-15 doi:10.1007/s12185-022-03389-7.

Asymptomatic Cryptosporidiosis in Children Living with HIV.

Diptyanusa A, Sari IP, Kurniawan A

Tropical medicine and infectious disease 2022; (7(11)) doi:10.3390/tropicalmed7110352.

Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review.

Alhumaid S, Al Mutared KM, Al Alawi Z, et al.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2023; (19(1)):69 doi:10.1186/s13223-023-00831-1.

Clinical Course, Therapeutic Management and Outcome of Coronavirus Disease in Patients With Inborn Errors of Immunity: A Retrospective Multicenter Experience From Iran.

Karimi A, Jamee M, Shokri Y, et al.

The Pediatric infectious disease journal 2023; (42(12)):1102-1106 doi:10.1097/INF.0000000000004110.

A large single-center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey.

Ünsal H, Caka C, Bildik HN, et al.

Scandinavian journal of immunology 2024; (99(1)):e13335 doi:10.1111/sji.13335.

Survival After Hematopoietic Stem Cell Transplantation in Severe Combined Immunodeficiency (SCID): A Worldwide Review of the Prognostic Variables.

Goebel GA, de Assis CS, Cunha LAO, et al.

Clinical reviews in allergy & immunology 2024; (66(2)):192-209 doi:10.1007/s12016-024-08993-5.

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.

Immunodeficiency: Burden of Illness.

Hsueh JC, Van Hersh AT, Zhao W

Allergy and asthma proceedings 2024; (45(5)):294-298 doi:10.2500/aap.2024.45.240060.

Late effects following hematopoietic cell transplantation for severe combined immunodeficiency: critical factors and therapeutic options.

Eissa H, Cowan MJ, Heimall J

Expert review of clinical immunology 2025; (21(1)):73-82 doi:10.1080/1744666X.2024.2402948.

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.

Israni M, Alderson E, Mahlaoui N, et al.

Journal of clinical immunology 2024; (45(1)):57.

IL-21 shapes the B cell response in a context-dependent manner.

Kim Y, Manara F, Grassmann S, et al.

Cell reports 2025; (44(1)):115190 doi:10.1016/j.celrep.2024.115190.

Prolonged pediatric intensive care unit (PICU) admission, challenges in diagnosis and treatment in a child with hyper IgM syndrome in a tertiary hospital in Tanzania: a case report.

Shoo A, Godfrey E, Mally D, et al.

The Pan African medical journal 2024; (49()):33 doi:10.11604/pamj.2024.49.33.42418.

Expert-Based, Institutional Approaches for Reducing the Diagnostic Odyssey of Patients With Inborn Errors of Immunity.

Rider NL, Bastarache L, Anderson JT, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(6)):1317-1324 doi:10.1016/j.jaip.2025.03.040.

Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations.

DeBortoli E, McInerney-Leo A, Macintosh R, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(8)):1918-1927 doi:10.1016/j.jaip.2025.03.052.

"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.

Double-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report.

Hasan FM, Hamdan MH, Ismail AM, et al.

Journal of medical case reports 2025; (19(1)):567 doi:10.1186/s13256-025-05649-6.

Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.

Chan CM, Fong ESS, Yeo DYC, et al.

Frontiers in immunology 2026; (17()):1751423 doi:10.3389/fimmu.2026.1751423.

Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.

Laberko A, Gennery AR

Expert review of clinical immunology 2026; (22(2)):183-193 doi:10.1080/1744666X.2026.2641540.

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.

Treosulfan-fludarabine conditioning in infants with severe combined immunodeficiencies: Extended study of the UK paediatric treosulfan study.

Lum SH, Greener S, Memon IL, et al.

British journal of haematology 2026; (208(5)):1713-1723 doi:10.1111/bjh.70453.

BCG arthritis in a patient with Severe Combined Immunodeficiency Disorder (SCID): a case report.

Eskandarzadeh S, Chavoshzadeh Z, Assadi Fanid M, et al.

BMC pediatrics 2026; (26(1)).

Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature.

Wang C, Filippov E, Seyedmousavi A, et al.

The Journal of infectious diseases 2026; doi:10.1093/infdis/jiag262.

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.

Beyond immune recovery: Quality of life and psychosocial challenges in children with inborn errors of immunity after transplantation.

Aydemir S, Nurhan E, Turan I, et al.

Irish journal of medical science 2026; doi:10.1007/s11845-026-04480-2.

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.

Major histocompatibility complex class II deficiency in Morocco: a 26-year retrospective cohort study.

Kattra AB, Ailal F, Benhsaien I, et al.

Frontiers in immunology 2026; (17()):1831840 doi:10.3389/fimmu.2026.1831840.

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.