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BackgroundPrimary ciliary dyskinesia (PCD) management relies on mucociliary clearance to prevent bronchiectasis. While humoral immunodeficiencies have been reported in PCD, their clinical significance remains under-defin...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a noninfectious interstitial lung disorder characterized by granulomatous inflammation and lymphoid proliferation. It is most frequently identified...

Background and AimsCHARGE syndrome (OMIM#214800) is a rare hereditary monogenic disease with an autosomal-dominant pattern of inheritance. It is characterized by multiple congenital malformations and is caused by pathoge...

Clinical research and real-world observational studies are essential for advancing the diagnosis and treatment of rare diseases, such as inborn errors of immunity/primary immune disorders (IEI/PID). To support efficient ...

X-linked severe combined immunodeficiency (SCID-X1) presents as T-B+NK- SCID, due to mutations in the common γ chain (IL2RG/CD132), a shared component of several cytokine receptors. Without definitive therapy, SCID-X1 i...

BackgroundBehçet’s disease is a multisystem inflammatory disorder whose diagnosis can be challenging due to overlapping features with other inflammatory conditions and primary immunodeficiencies (1). In patients with ...

IntroductionRituximab, an anti-CD40 antibody, is a commonly used B cell-depleting therapy. We present a case that illustrates the unveiling of an underlying common variable immune deficiency (CVID) after completion of ri...

Materias / palabras clave: inborn errors of immunity, clinical phenotypes, infections and auto-antibodies, phenocopies of inborn errors, severe immunodeficiencies, t cell deficiencies; Medicine: Internal medicine: Specialties of internal medicine:...