Introducere. Defectele congenitale ale fagocitelor sunt afecţiuni ereditare rare care implică neutrofilele, macro-fagele sau monocitele. Aceste defecte compromit imunitatea înnăscută prin afectarea exploziei oxidative şi a traficului lizozomal, ducând la infecţii recurente, formare de granuloame şi disfuncţii imune. Scop. Analiza integrativă a datelor privind epidemiologia, mecanismele genetice, tabloul clinic, metodele de diagnostic şi strategiile terapeutice actuale în defectele fagocitare congenitale. Material şi metode. A fost realizată o analiză narativă a literaturii folosind bazele de date PubMed şi NLM cu termenii: boala granulomatoasă cronică (CGD), deficitul de adeziune leuco-citară (LAD) şi sindromul Chediak-Higashi. Datele privind incidenţa, mutaţiile genetice, metodele de diagnostic şi rezultatele au fost sintetizate descriptiv. Rezultate. CGD are o incidenţă de 1:200.000-250.000, mai frecvent în familii consangvine; LAD1 şi sindromul Chediak-Higashi sunt mai rare (-1:1.000.000). Mutaţiile CYBB, ITGB2 şi LYST afectează NADPH oxidaza, adeziunea celulară şi traficul vezicular. Manifestările clinice includ infecţii recurente cu Aspergillus, separare ombilicală întârziată şi episoade limfohistiocito-za-like. Diagnosticul se bazează pe test cu dihidrorodami-na, citometrie de flux şi teste genetice. Tratamentul include remedii antimicrobiene, interferon-y şi transplantul ma-duvei osoase. Noi terapii: editarea genică şi inhibitorii JAK. Intervenţia precoce îmbunătăţeşte prognosticul. Concluzii. Diagnosticarea şi intervenţia precoce îmbunătăţesc semnificativ prognosticul. HSCT reprezintă o opţiune curativă, iarterapia genică şi medicina personalizată oferă perspective promiţătoare. Recunoaşterea infecţiilor recurente cu Aspergillus este esenţială pentru intervenţie rapidă.
Introduction. Congenital phagocyte defects were rare inherited disorders affecting neutrophils, macrophages, or monocytes. Innate immunity was impaired by disrupting oxidative burst and lysosomal trafficking, leading to recurrent infections, granuloma formation, and immune dysregulation. Early recognition was challenging. Objective. This review aimed to comprehensively analyze the epidemiology, genetics, clinical features, diagnostic approaches, current management approaches of congenital phagocyte defects. Material and methods. A narrative review design was employed. Literature was retrieved from PubMed and NLM using keywords granulomatous disease, leukocyte adhesion deficiency (LAD), and Chédiak-Higashi syndrome. Data on incidence, genetic mutations, diagnostic assays, and outcomes were extracted and synthesized descriptively; no meta-analysis was conducted. Results. CGD affects 1:200,000-250,000 births, more frequently in consanguineous families. Rarer disorders like LAD type 1 and Chédiak-Higashi syndrome occur in ~1:1,000,000. Mutations in CYBB, ITGB2, and LYST genes impair NADPH oxidase function, cellular adhesion. Clinical features include recurrent Aspergillus infections, delayed umbilical cord separation, and Hemophagocytic Lymphohistiocytosis. Diagnosis uses Dihydrorhodamine (DHR) assay, flow cytometry, and genetic testing. Treatment includes antimicrobials, interferon-gamma, and hematopoietic stem cell transplantation (80% survival). Future therapies involve gene editing and JAK inhibitors. Conclusion. It was concluded that early diagnosis and care improved outcomes, confirming that timely intervention was beneficial. Gene therapy and precision medicine were identified as promising. Recognizing recurrent Aspergillus infections ensured timely intervention in most observed cases.
