What does this research mean for the field?

Adult inborn errors of immunity present with a highly heterogeneous clinical spectrum, and specialized referral centers are crucial for identifying novel genetic variants and atypical phenotypes, such as those involving SPI1, C4A, PIK3CG, and IRF2BP2 mutations. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To describe the clinical spectrum, complication rates, and novel genetic variants in adult patients with inborn errors of immunity managed at a national referral center.

August 22, 2026Journal of Human ImmunityOpen Access

Challenges in Diagnosis and Management of Adult Inborn Errors of Immunity: The Serbian Experience

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To describe the clinical spectrum, complication rates, and novel genetic variants in adult patients with inborn errors of immunity managed at a national referral center.
Retrospective cohort analysis of approximately 200 adult patients with inborn errors of immunity (IEI) followed since 2012 at a national reference center in Serbia.
Phenotypic characterization of common variable immunodeficiency (CVID, n=57) and genetic evaluation of patients with atypical or ultra-rare presentations.
Among patients with CVID (n=57), the most frequent noninfectious manifestations were gastrointestinal involvement (28/57, 49.1%), malignancies (13/57, 22.8%), and granulomatous-lymphocytic interstitial lung disease (9/57, 15.7%).
Novel variants and phenotypes were identified, including SPI1-associated agammaglobulinemia with neurocognitive features, PIK3CG-related monogenic CVID with early respiratory failure, and an IRF2BP2-region deletion with syndromic impairment.
A rapidly progressive myelodysplastic syndrome in a patient with somatic TP53 and SF3B1 mutations, initially manifesting with Behçet-like features, was successfully treated with hematopoietic stem cell transplantation.

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Implication

Cohort study demonstrates diverse clinical phenotypes and novel genetic variants in adult inborn errors of immunity, highlighting the vital diagnostic role of specialized referral centers.

Cite This Study

Maja Stojanović (2026) studied this question.

synapsesocial.com/papers/6a898131ca7ade938187f274 https://doi.org/10.70962/sgpi2026abstract.9

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Implication

Cohort study demonstrates diverse clinical phenotypes and novel genetic variants in adult inborn errors of immunity, highlighting the vital diagnostic role of specialized referral centers.

Challenges in Diagnosis and Management of Adult Inborn Errors of Immunity: The Serbian Experience

Key Points

Discussion

Implication

Cite This Study

Challenges in Diagnosis and Management of Adult Inborn Errors of Immunity: The Serbian Experience

Key Points

Discussion

Implication

Cite This Study

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