Full Nelson Immunology Comparison Table - English Category Disease Mechanism / Defect Clinical Features Diagnostic Tests Treatment Exam Tip Antibody Deficiencies X-linked Agammaglobulinemia (XLA) BTK mutation → absent B cells Recurrent bacterial infections after 6 months, otitis, sinusitis, pneumonia Low IgG/A/M, absent CD19+ B cells, genetic test IVIG replacement, antibiotics Male infant with recurrent pyog Antibody Deficiencies CVID Impaired B-cell maturation Sinopulmonary infections, diarrhea, autoimmune disease, lymphoma Low IgG ± IgA/IgM, poor vaccine response, B cell phenotyping IVIG, treat infections, monitor autoimmunity Often presents in adolescence/ Antibody Deficiencies Hyper-IgM Syndrome CD40L (X-linked) or CD40/CD40L pathway defect Recurrent infections including opportunistic (PCP), neutropenia IgG/IgA low, IgM high, genetic test IVIG, antibiotics, HSCT for severe cases Opportunistic infections clue Antibody Deficiencies IgA Deficiency Unknown/genetic Usually asymptomatic, recurrent sinopulmonary infections, diarrhea IgA < 7 mg/dL, normal IgG/M Treat infections, avoid blood products if anti-IgA antibodies pres Most common primary immuno Combined T+B Deficiencies SCID IL2RG/ADA/JAK3 mutations → T and B cell dysfunction Failure to thrive, chronic diarrhea, severe infections, thrush Lymphopenia, T/B/NK cell profile, TRECs, genetic testing HSCT, enzyme replacement (ADA), supportive care Presents in infancy with severe Combined T+B Deficiencies Omenn Syndrome Hypomorphic RAG1/RAG2 mutations Erythroderma, lymphadenopathy, hepatosplenomegaly, eosinophilia, high IgE Oligoclonal T cells, genetic test HSCT Can mimic severe allergy/ecze Combined T+B Deficiencies Wiskott-Aldrich Syndrome (WAS) WASp mutation → cytoskeletal defect Eczema, thrombocytopenia with small platelets, recurrent infections Low platelets, small size, IgE ↑ /IgM ↓ , genetic test HSCT, supportive care, antibiotics Classic triad: eczema + thromb Combined T+B Deficiencies DiGeorge Syndrome 22q11.2 deletion → thymic hypoplasia Conotruncal heart defect, hypocalcemia, T-cell deficiency Low T cells, absent thymic shadow on CXR, FISH/microarray Calcium supplementation, thymus transplant, manage infections CATCH-22 mnemonic Phagocytic Defects Chronic Granulomatous Disease (CGD) NADPH oxidase defect → impaired respiratory burst Recurrent catalase-positive bacterial/fungal infections, granuloma formation DHR or NBT test, genetic test Antibiotic prophylaxis, IFN- γ , HSCT Often presents with liver/lung a Phagocytic Defects Leukocyte Adhesion Deficiency (LAD) CD18 ( β 2 integrin) deficiency Delayed umbilical cord separation, recurrent bacterial infections without pus Flow cytometry: CD18/CD11 expression HSCT Severe bacterial infections earl Phagocytic Defects Chediak-Higashi Syndrome LYST mutation → lysosomal trafficking defect Partial albinism, recurrent infections, giant granules in granulocytes Blood smear (giant granules) HSCT Partial albinism + recurrent infe Complement DeficienciesC1-INH deficiency (Hereditary Angioedema) C1 esterase inhibitor deficiency Recurrent angioedema without urticaria Low C4, C1-INH level/function C1-INH replacement, icatibant Triggered by stress or trauma Complement DeficienciesMAC (C5–C9) deficiency Terminal complement defect Recurrent Neisseria infections CH50 ↓ , genetic testing Vaccination, antibiotic prophylaxis Susceptible to meningococcal i Complement DeficienciesC1q deficiency Classical pathway defect SLE-like manifestations CH50 ↓ , C1q level Treat SLE manifestations Rare, autoimmune features Innate/Cytokine Defects Hyper-IgE Syndrome (STAT3) STAT3 mutation → impaired Th17 Cold abscesses, eczema, retained primary teeth, high IgE IgE ↑ , eosinophilia, genetic test Antibiotics, prophylaxis Characteristic facies, recurrent Innate/Cytokine Defects DOCK8 deficiency (AR Hyper-IgE) DOCK8 mutation → cytoskeleton defect Severe viral infections, eczema, allergy IgE ↑ , genetic testing HSCT Severe viral susceptibility clue Innate/Cytokine Defects IL-12/IFN- γ axis defects Cytokine signaling defect Mycobacterial infections Functional assay, genetic testing IFN- γ therapy Susceptibility to BCG/NTM Autoimmune/Regulatory Disorders IPEX FOXP3 mutation → Treg deficiency Enteropathy, eczema, diabetes, high IgE Genetic testing HSCT Early onset severe autoimmuni Autoimmune/Regulatory Disorders ALPS FAS/FASL apoptosis defect Lymphadenopathy, splenomegaly, autoimmune cytopenias Double-negative T cells ↑ , genetic test Steroids, rituximab Chronic lymphoproliferation clu IgE/Eosinophilia Disorders Atopic Dermatitis Skin barrier dysfunction, IgE ↑ Chronic eczema, pruritus IgE ↑ , clinical diagnosis Emollients, topical steroids Common pediatric allergic diso IgE/Eosinophilia Disorders ABPA Aspergillus hypersensitivity Wheezing, bronchiectasis IgE ↑ , positive skin test Steroids, antifungal Seen in asthma/CF patients IgE/Eosinophilia Disorders Eosinophilic Esophagitis Food allergy-driven Dysphagia, food impaction Biopsy: eosinophilia >15/hpf Dietary elimination, steroids Allergy-related esophagitis Eosinophilia-Related Disorders Parasitic infections Helminth migration GI or pulmonary symptoms Eosinophilia ↑ Antiparasitic therapy Travel history clue Eosinophilia-Related Disorders HES Idiopathic hypereosinophilia Organ damage, persistent eosinophilia Eosinophils >1500/ μ L Corticosteroids Rule out secondary causes Eosinophilia-Related Disorders Drug reactions (DRESS) Drug hypersensitivity Fever, rash, eosinophilia Clinical + labs Steroids, stop drug Delayed hypersensitivity Other Disorders Hodgkin Lymphoma Malignant lymphocyte proliferation B symptoms, lymphadenopathy Lymph node biopsy, IgE/ eosinophilia Chemotherapy May show IgE/eosinophilia elev Other Disorders Bullous Pemphigoid Autoimmune blistering Subepidermal blisters, tense bullae Skin biopsy, IgG/IgE deposition Steroids, immunosuppressants Older adult blistering disease