Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency

Area of Science:

• Immunology
• Metabolic Disorders
• Genetics

Background:

• Prolidase deficiency is an autosomal recessive metabolic and immunological disorder with variable clinical presentations.
• Atypical features and immunophenotypes are poorly documented, necessitating further research.
• This study aims to describe rare manifestations and raise awareness of prolidase deficiency.

Purpose of the Study:

• To present four new cases of prolidase deficiency.
• To document rare clinical and immunological features.
• To increase awareness and facilitate diagnosis of this underdiagnosed condition.

Main Methods:

• Retrospective analysis of demographic, clinical, and immunological data from four female patients with prolidase deficiency.
• Evaluation of presenting complaints, infections, malignancy, and laboratory findings including lymphocyte subsets and enzyme activity.

Main Results:

• All patients exhibited skin lesions, dysmorphic features, neurodevelopmental delay, and frequent infections.
• Opportunistic infections (CMV, EBV, Pneumocystis jirovecii) and diffuse large B-cell lymphoma were observed in two patients.
• Immunophenotyping revealed lymphopenia, inverted CD4/CD8 ratio, reduced naive T cells, and low B cells in some patients, suggesting combined immunodeficiency.

Conclusions:

• Prolidase deficiency presents with atypical features beyond classical dermatological findings, including opportunistic infections, gastrointestinal issues, and malignancy.
• Flow cytometry findings suggest combined immunodeficiency, indicating the condition may be underestimated.
• Recognition of rare presentations is crucial for timely diagnosis and management of prolidase deficiency.