What does this research mean for the field?

Among patients with inborn errors of immunity, predominantly antibody deficiencies are the most common presentation, and approximately half of the cases—particularly common variable immunodeficiency (CVID)—still lack an identified genetic cause. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To characterize the clinical features and genetic basis of inborn errors of immunity in 100 patients.

June 6, 2026Journal of Human ImmunityOpen Access

Clinical Overview of 100 Patients with Inborn Errors of Immunity at National Defense Medical College

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Authors

YHYu Hashimoto SMSayaka Mitani YSYuki Sakai

Discussion

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Overview

Retrospective analysis identifies clinical features and genetic profiles in patients with inborn errors of immunity, indicating a need for further research.

Key Points

To characterize the clinical features and genetic basis of inborn errors of immunity in 100 patients.
Retrospective analysis of 100 patients with inborn errors of immunity at National Defense Medical College Hospital.
Evaluated variables included age, sex, diagnostic category, and registrational status in PIDJ2.
Assessed the use of immunoglobulin replacement therapy and identification of causative genes.
Patients aged 0-68 years (median: 19.5 years); 65 males and 35 females identified.
Diagnostic categories featured predominantly antibody deficiencies (57 patients), followed by combined immunodeficiencies (12) and others.
Causative genes identified in 51 patients; 41 patients remained without identified causative genes, most commonly antibody deficiencies.

Cite This Study

Hashimoto et al. (2026) studied this question.

synapsesocial.com/papers/6a23b9ca71a5da9775e75a05 https://doi.org/10.70962/jsiad2026abstract.19

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June 6, 2026Journal of Human ImmunityOpen Access

Clinical Overview of 100 Patients with Inborn Errors of Immunity at National Defense Medical College

View Full Paper

Ask AI

Bookmark

Authors

YHYu Hashimoto SMSayaka Mitani YSYuki Sakai

Discussion

Member takes

Overview

Retrospective analysis identifies clinical features and genetic profiles in patients with inborn errors of immunity, indicating a need for further research.

Key Points

To characterize the clinical features and genetic basis of inborn errors of immunity in 100 patients.
Retrospective analysis of 100 patients with inborn errors of immunity at National Defense Medical College Hospital.
Evaluated variables included age, sex, diagnostic category, and registrational status in PIDJ2.
Assessed the use of immunoglobulin replacement therapy and identification of causative genes.
Patients aged 0-68 years (median: 19.5 years); 65 males and 35 females identified.
Diagnostic categories featured predominantly antibody deficiencies (57 patients), followed by combined immunodeficiencies (12) and others.
Causative genes identified in 51 patients; 41 patients remained without identified causative genes, most commonly antibody deficiencies.

Cite This Study

Hashimoto et al. (2026) studied this question.

synapsesocial.com/papers/6a23b9ca71a5da9775e75a05 https://doi.org/10.70962/jsiad2026abstract.19

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