This is a snippet from Dr. Sonal R. Patel’s Allergy & Immunology lecture in MedStudy’s 2023-2024 Pediatrics Video Board Review. [ Ссылка ]
Severe Combined Immunodeficiency
• IL-2Rγ defect
• IL-7Rα defect
• RAG deficiency
• CD3 receptor defect
• JAKF3 defect
• ZAP-70 defect
• ADA deficiency
• PNP deficiency
• Reticular dysgenesis
• Omenn syndrome
• Bare lymphocyte syndrome
• Presents 1st few months of life
• Clinical presentation
– Eczematous-like skin lesions
– Chronic lung infections
– Chronic diarrhea
– Failure to thrive
– Absent thymus shadow
– Lymphopenia
– Septicemia
• Medical emergency
Combined B- and T-Cell Defects
• B-Cell Defect
– Recurrent sinopulmonary infections
• Bacteria: Streptococcus pneumoniae, Haemophilus influenzae, Staphylococcus aureus
• Virus: enterovirus
• Protozoa: Giardia
• T-Cell Defect
– Intracellular organisms and opportunistic infections
• Bacteria: Salmonella, syphilis
• Mycobacteria: MTB, MAC, MAI
• Virus: CMV, HSV, VZV, EBV
• Fungi: Candida, Aspergillus, cocci, Cryptococcus, histoplasmosis
• Protozoa: PJP, toxoplasmosis, isosporiasis, microsporidiosis
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