Research & Literature

ECIL guidelines for preventing Pneumocystis jirovecii pneumonia in patients with haematological malignancies and stem cell transplant recipients.

Maertens J, Cesaro S, Maschmeyer G, et al.

The Journal of antimicrobial chemotherapy 2016; (71(9)):2397-404 doi:10.1093/jac/dkw157.

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

Speckmann C, Doerken S, Aiuti A, et al.

The Journal of allergy and clinical immunology 2017; (139(4)):1302-1310.e4 doi:10.1016/j.jaci.2016.07.040.

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.

MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes.

El Hawary RE, Mauracher AA, Meshaal SS, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(3)):856-863 doi:10.1016/j.jaip.2018.07.046.

An Infant with Respiratory Distress and Loose Stools.

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

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

Pneumocystis jirovecii pneumonia as an initial manifestation of hyper-IgM syndrome in an infant: A case report.

Kim D, Shin JA, Han SB, et al.

Medicine 2019; (98(7)):e14559 doi:10.1097/MD.0000000000014559.

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J, Desai M, Gupta M, et al.

Frontiers in immunology 2019; (10()):23 doi:10.3389/fimmu.2019.00023.

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.

Greenberg-Kushnir N, Lee YN, Simon AJ, et al.

Journal of clinical immunology 2020; (40(1)):211-222 doi:10.1007/s10875-019-00717-1.

Hematopoietic Stem Cell Transplantation for Combined Immunodeficiencies, on Behalf of IEWP-EBMT.

Neven B, Ferrua F

Frontiers in pediatrics 2019; (7()):552 doi:10.3389/fped.2019.00552.

Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report.

Li J, Miao H, Wu L, Fang Y

Medicine 2020; (99(24)):e20505 doi:10.1097/MD.0000000000020505.

The challenges presented by haematopoietic stem cell transplantation in children with primary immunodeficiency.

Gennery AR

British medical bulletin 2020; (135(1)):4-15 doi:10.1093/bmb/ldaa017.

Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.

Zama D, Conti F, Moratti M, et al.

Immunity, inflammation and disease 2021; (9(2)):583-594 doi:10.1002/iid3.420.

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.

Blom M, Zetterström RH, Stray-Pedersen A, et al.

The Journal of allergy and clinical immunology 2022; (149(4)):1428-1436 doi:10.1016/j.jaci.2021.08.026.

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.

Kuehn HS, Chang J, Yamashita M, et al.

The Journal of experimental medicine 2021; (218(12)) doi:10.1084/jem.20211118.

AIOLOS Variants Causing Immunodeficiency in Human and Mice.

Yamashita M, Morio T

Frontiers in immunology 2022; (13()):866582 doi:10.3389/fimmu.2022.866582.

Cernunnos defect in an Iranian patient with T- B+ NK+ severe combined immunodeficiency: A case report and review of the literature.

Jamee M, Khakbazan Fard N, Fallah S, et al.

Molecular genetics & genomic medicine 2022; (10(8)):e1990 doi:10.1002/mgg3.1990.

Peripheral-blood cytopenia, an early indicator of inborn errors of immunity.

Cornelissen HM, Musekwa EM, Glashoff RH, et al.

British journal of haematology 2022; (198(5)):875-886 doi:10.1111/bjh.18337.

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.

Pneumocystis jiroveci Pneumonia: A Review of Management in Human Immunodeficiency Virus (HIV) and Non-HIV Immunocompromised Patients.

Ibrahim A, Chattaraj A, Iqbal Q, et al.

Avicenna journal of medicine 2023; (13(1)):23-34 doi:10.1055/s-0043-1764375.

Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.

Raspa M, Kutsa O, Andrews SM, et al.

European journal of human genetics : EJHG 2024; (32(4)):392-398 doi:10.1038/s41431-023-01345-5.

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Mongkonsritragoon W, Huang J, Fredrickson M, et al.

Clinical medicine insights. Pediatrics 2023; (17()):11795565231162839 doi:10.1177/11795565231162839.

Low-Dose TMP-SMX for Pneumocystis jirovecii Pneumonia Prophylaxis in Pediatric Solid Organ Transplant Recipients.

Chen JK, Guerci J, Corbo H, et al.

The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG 2023; (28(2)):123-128 doi:10.5863/1551-6776-28.2.123.

A personalized approach to lymphoproliferations in patients with inborn errors of immunity.

Naor S, Adam E, Schiby G, Gratzinger D

Seminars in diagnostic pathology 2023; (40(6)):408-419 doi:10.1053/j.semdp.2023.07.001.

Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.

Kuehn HS, Sakovich IS, Niemela JE, et al.

The Journal of clinical investigation 2024; (134(3)).

The transcription factor Aiolos restrains the activation of intestinal intraepithelial lymphocytes.

Yomogida K, Trsan T, Sudan R, et al.

Nature immunology 2024; (25(1)):77-87 doi:10.1038/s41590-023-01693-w.

Population pharmacokinetics of immunoglobulin G after intravenous, subcutaneous, or hyaluronidase-facilitated subcutaneous administration in immunoglobulin-naive patients with primary immunodeficiencies.

Li Z, Follman K, Freshwater E, et al.

International immunopharmacology 2024; (128()):111447 doi:10.1016/j.intimp.2023.111447.

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.

Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.

Howley E, Soomann M, Kreins AY

Journal of clinical immunology 2024; (44(3)):79 doi:10.1007/s10875-024-01678-w.

Evaluation of effectiveness, hyperkalaemia, and hepatotoxicity of trimethoprim-sulphamethoxazole prophylaxis for Pneumocystis jirovecii pneumonia in paediatric patients: A single-centre retrospective study.

Kato H, Hagihara M, Asai N, et al.

International journal of antimicrobial agents 2024; (63(5)):107151 doi:10.1016/j.ijantimicag.2024.107151.

Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency.

Shi X, Cao X, Huang M, et al.

Journal of clinical immunology 2024; (44(5)):117 doi:10.1007/s10875-024-01706-9.

The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases.

Costagliola G, De Marco E, Massei F, et al.

Therapeutics and clinical risk management 2024; (20()):261-274 doi:10.2147/TCRM.S462996.

AIOLOS-Associated Inborn Errors of Immunity.

Yamashita M, Morio T

Journal of clinical immunology 2024; (44(6)):128 doi:10.1007/s10875-024-01730-9.

Transcriptional function of E2A, Ebf1, Pax5, Ikaros and Aiolos analyzed by in vivo acute protein degradation in early B cell development.

Fedl AS, Tagoh H, Gruenbacher S, et al.

Nature immunology 2024; (25(9)):1663-1677 doi:10.1038/s41590-024-01933-7.

Hematopoietic stem cell transplantation for primary immunodeficiency.

Alsaati N, Grier A, Ochfeld E, et al.

Allergy and asthma proceedings 2024; (45(5)):371-383 doi:10.2500/aap.2024.45.240069.

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.

Immunoglobulin therapy for immunodeficiency.

Wilson BE, Freeman CM

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

Effectiveness, Safety, and Treatment Satisfaction of 20% Subcutaneous Immunoglobulin Replacement Therapy in Pediatric Patients with Primary and Secondary Immunodeficiencies.

Sefer AP, Kaya MS

Turkish archives of pediatrics 2025; (60(2)):217-225 doi:10.5152/TurkArchPediatr.2025.24305.

Inborn errors of immunity presenting with lymphoproliferation: lessons from a case series.

Costagliola G, De Marco E, Consonni F, et al.

Annals of hematology 2025; (104(6)):3117-3127 doi:10.1007/s00277-025-06456-1.

Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.

Roberti G, Maestrini G, Polito B, et al.

Journal of clinical medicine 2025; (14(17)) doi:10.3390/jcm14176295.

Current infectious disease management challenges in inborn errors of immunity.

Zheng S, Lowe DM

Annals of clinical microbiology and antimicrobials 2025; (24(1)):60 doi:10.1186/s12941-025-00830-7.

X-linked severe combined immunodeficiency due to IL2RG p.V223F variant: clinical evidence that support its pathogenicity- a case report.

Gutiérrez-Zepeda BM, Lona-Reyes JC, Cruz-Muñoz ME, et al.

Frontiers in immunology 2026; (17()):1776191 doi:10.3389/fimmu.2026.1776191.

[Immunoglobulin Replacement Therapy in Antibody Production Defects].

Bernardino A, Abdurrachid N, Varandas C, et al.

Acta medica portuguesa 2026; (39(5)):366-371 doi:10.20344/amp.24119.

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.

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.

Multidisciplinary Delphi consensus on malignancy screening in patients with common variable immunodeficiency.

Cabanero-Navalon MD, de Andrés-Martín A, Gil AA, et al.

Frontiers in immunology 2026; (17()):1897051 doi:10.3389/fimmu.2026.1897051.

Pre-diagnosis emotions and experiences of parents of children with immunodeficiency disorders: A qualitative study.

Coşkun Şimşek D, Polat F, Bahçecioğlu Turan G, Kiliç M

Journal of pediatric nursing 2026; doi:10.1016/j.pedn.2026.09.029.