Articles

1. Severe Tick-Borne Encephalitis (TBE) in a Patient with X-Linked Agammaglobulinemia; Treatment with TBE Virus IgG Positive Plasma, Clinical Outcome and T Cell Responses

   • Wilhelm Hedin
   • Peter Bergman
   • Emilie Wahren Borgström

   Research Open access 27 April 2024 Article: 116

   

2. Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia

   • Svetlana Vakkilainen
   • Kira Ahonen
   • on behalf of ESID

   Correspondence 27 April 2024 Article: 115

3. Expression of full-length FOXP3 exceeds other isoforms in thymus and stimulated CD4 + T cells

   • Benita Kröger
   • Michael Spohn
   • Reiner K. Mailer

   Comment Open access 27 April 2024 Article: 114

   

4. Perspective - Was it All for Nothing?

   • Raz Somech

   Comment 27 April 2024 Article: 113

5. Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome

   • Robin Kechiche
   • Clémence David
   • Marie-Louise Frémond

   Correspondence 27 April 2024 Article: 112

   

6. A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency

   • Brenna Labere
   • Elizabeth Christian
   • Alicia M. Johnston

   Correspondence 27 April 2024 Article: 111

7. T-cell Defects in a Patient with NFKBIA Gene Mutation

   • Jing Wu
   • Ying-Ying Jin
   • Tong-Xin Chen

   Letter to Editor 27 April 2024 Article: 110

   

8. Assessment of Sleep Disorders in Patients with CVID

   • Mantavya Punj
   • Seyed Sina Neshat
   • Jacqueline D. Squire

   Research 27 April 2024 Article: 109

9. Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion

   • Ceyda Tuna Kırsaçlıoğlu
   • Alexandra Frohne
   • Aydan Kansu

   Original Article Open access 27 April 2024 Article: 108

   

10. Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency

    • Elizabeth Daly Hicks
    • Geoffrey Hall
    • Talal Mousallem

    Research Open access 27 April 2024 Article: 107

    

11. Gérard Orth: From Viral to Human Genes Underlying Warts

    • Jean-Laurent Casanova
    • Emmanuelle Jouanguy

    Obituary Open access 27 April 2024 Article: 106

    

12. Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

    • Linda Rossini
    • Silvia Ricci
    • Antonio Marzollo

    Research 27 April 2024 Article: 105

    

13. Suppression of Type I Interferon Signaling in Myeloid Cells by Autoantibodies in Severe COVID-19 Patients

    • Ami Aoki
    • Chiaki Iwamura
    • Kiyoshi Hirahara

    Original Article Open access 22 April 2024 Article: 104

    

14. Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis

    • Takako Suzuki
    • Yoshitaka Sato
    • Jun-ichi Kawada

    Research 20 April 2024 Article: 103

    

15. Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity

    • Qifan Li
    • Wenjie Wang
    • Jinqiao Sun

    Research Open access 18 April 2024 Article: 102

    

16. Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center

    • Raed Alzyoud
    • Motasem Alsuweiti
    • Hamazh Nsour

    Research 17 April 2024 Article: 101

    

17. Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX

    • Linda Rossini
    • Claudia Maria Bonardi
    • Antonio Marzollo

    Letter to Editor 16 April 2024 Article: 100

    

18. Mendelian Causes of Autoimmunity: the Lupus Phenotype

    • Maud Tusseau
    • Samira Khaldi-Plassart
    • Alexandre Belot

    Review 15 April 2024 Article: 99

    

19. Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3

    • Christo Tsilifis
    • Jarmila Stremenova Spegarova
    • Andrew R. Gennery

    Research Open access 10 April 2024 Article: 98

    

20. Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine

    • Lorne Schweitzer
    • Sapha Barkati
    • Donald C. Vinh

    Letter to Editor 08 April 2024 Article: 97

    

21. Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform

    • Rafah Mackeh
    • Yasmin El Bsat
    • Bernice Lo

    Original Article Open access 08 April 2024 Article: 96

    

22. OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers

    • Laura Batlle-Masó
    • Maria Antolin
    • Roger Colobran

    Correspondence 05 April 2024 Article: 95

    

23. Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion

    • Ibrahim Serhat Karakus
    • Mehmet Cihangir Catak
    • Safa Baris

    Original Article Open access 05 April 2024 Article: 94

    

24. Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

    • Andrey V. Marakhonov
    • Irina Yu. Efimova
    • Sergey I. Kutsev

    Research 05 April 2024 Article: 93

    

25. Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children

    • Mai Magdy Saad
    • Radwa Alkady
    • Aisha M. Elmarsafy

    Research Open access 05 April 2024 Article: 92

    

26. Monozygotic Twins with MAGT1 Deficiency and Epstein–Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report

    • Jiachen Wang
    • Mi Zhou
    • Liang Huang

    Letter to Editor Open access 05 April 2024 Article: 91

    

27. An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect

    • Suprit Basu
    • Shubham Goel
    • Biman Saikia

    Letter to Editor 05 April 2024 Article: 90

    

28. A deep intronic BTK variant underlies X-linked agammaglobulinemia

    • Shoichiro Tateishi
    • Shoichi Shimizu
    • Kohsuke Imai

    Correspondence 05 April 2024 Article: 89

    

29. Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment

    • Jiahui Zhang
    • Panfeng Tao
    • Qing Zhou

    Review 05 April 2024 Article: 88

    

30. 22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features

    • Alexis M. Crockett
    • Hania Kebir
    • Jorge I. Alvarez

    Research 05 April 2024 Article: 87

    

31. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report

    • John McDonnell
    • Kimberley Cousins
    • Rebecca Marsh

    Original Article Open access 05 April 2024 Article: 86

    

32. Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib

    • Laura Dotta
    • Francesca Todaro
    • Raffaele Badolato

    Research Open access 05 April 2024 Article: 85

    

33. Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF

    • June-Young Koh
    • Doo Ri Kim
    • Eui-Cheol Shin

    Original Article Open access 05 April 2024 Article: 84

    

34. Correction to: Clinical Characteristics of Pediatric Patients with LRBA Deficiency in Mexico

    • Eduardo Liquidano‑Perez
    • Selma Scheffler‑Mendoza
    • Gabriela Lopez‑Herrera

    Correction 04 April 2024 Article: 83

35. Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis

    • Nora Pernaa
    • Anni Vakkuri
    • Timo Hautala

    Research Open access 15 March 2024 Article: 81

    

36. Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome

    • Valentina Frusone
    • Kelly Maurer
    • Kathleen E. Sullivan

    Research 15 March 2024 Article: 82

    

37. Prevalence of Neutralizing Autoantibodies Against Type I Interferon in a Multicenter Cohort of Severe or Critical COVID-19 Cases in Shanghai

    • Dongling Shi
    • Jie Chen
    • Yun Ling

    Research Open access 10 March 2024 Article: 80

    

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

    • Evey Howley
    • Maarja Soomann
    • Alexandra Y. Kreins

    Research Open access 08 March 2024 Article: 79

    

39. Pharmacokinetics of Baricitinib in Cerebrospinal Fluid and Plasma in a Patient with SPENCD

    • Micol Romano
    • Ashley Geerlink
    • Facundo Garcia-Bournissen

    Correspondence 08 March 2024 Article: 78

40. Involvement of IL-17 A/IL-17 Receptor A with Neutrophil Recruitment and the Severity of Coronary Arteritis in Kawasaki Disease

    • I-Chun Lin
    • Jau-Ling Suen
    • Lin Wang

    Original Article Open access 07 March 2024 Article: 77

    

41. The Complexity of Being A20: From Biological Functions to Genetic Associations

    • Urekha Karri
    • Magdalena Harasimowicz
    • Daniella M. Schwartz

    Review 07 March 2024 Article: 76

    

42. Clinical Characteristics of Pediatric Patients with LRBA Deficiency in Mexico

    • Eduardo Liquidano-Perez
    • Selma Scheffler-Mendoza
    • Gabriela Lopez-Herrera

    Letter to Editor 06 March 2024 Article: 75

43. Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis

    • Fayhan J. Alroqi
    • Musaab A. Alhezam
    • Abdulrahman Alrasheed

    Research Open access 01 March 2024 Article: 73

    

44. A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation

    • Baran Erman
    • Sevgi Köstel Bal
    • Kaan Boztug

    Research Open access 01 March 2024 Article: 74

    

45. Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers

    • Priya K. Patel
    • Michell Lozano Chinga
    • Jolan E. Walter

    Correction 29 February 2024 Article: 72

46. Psychosocial Evaluation of Adults with Primary Immunodeficiency

    • Reyhan Gumusburun
    • Sevgi Altay
    • Omur Ardeniz

    Research Open access 27 February 2024 Article: 71

    

47. Successful Treatment of Refractory EBV-Associated Hemophagocytic Lymphohistiocytosis with Combined Emapalumab and PD-1 Blockade

    • Yue Song
    • Weiyang Li
    • Jianhong Fu

    Correspondence 24 February 2024 Article: 70

    

48. Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease

    • Sarah-Jolan Bremer
    • Annika Boxnick
    • Anna Gieras

    Original Article Open access 23 February 2024 Article: 69

    

49. Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome

    • Saba Jafarpour
    • Jolee Suddock
    • Jonathan D. Santoro

    Correspondence 21 February 2024 Article: 68

    

50. Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency

    • Ping Wang
    • Xiaowen Qian
    • Xiaowen Zhai

    Original Article 19 February 2024 Article: 67