Bruton's Agammaglobulinemia
- X-linked Recessive
- Defective Bruton Tyrosine Kinase
- Blocks B Cell Maturation
- Decreased Immunoglobulins of All Classes
- Bacterial Infections After Six Months
- Maternal IgG Protects Before Six Months
Common Variable Immunodeficiency
- Defect in B Cell Maturation
- Decreased Plasma Cells
- Decreased Immunoglobulins
- Sinopulmonary Infections
- Increased Risk of Autoimmune Disease
- Lymphoma
Selective IgA Deficiency
- Defect in Class Switching
- Decreased IgA
- Often Asymptomatic
- Increase in Atopic & Autoimmune Diseases
- Sinopulmonary Infections
- Increased Risk Giardia Lamblia Infections
- Inflammatory Bowel Disease
- Celiac Disease
- Anaphylaxis From IgA Containing Blood Products
Thymic Aplasia (DiGeorge Syndrome)
- DiGeorge Syndrome
- 22q11 Deletion
- Failure to Develop Third and Fourth Pharyngeal Pouches
- Undeveloped Thymus
- T Cell Deficiency
- Recurrent Viral and Fungal Infections
- Undeveloped Parathyroids
- Hypocalcemia
- Tetany
- Aortic Defects
- Congenital Heart Defects
- Absent Thymic Shadow on CXR
Hyper IgE Syndrome
- Job Syndrome (Autosomal Dominant Hyper IgE Syndrome)
- Autosomal Dominant
- STAT3 Mutation
- Increased IgE
- Abnormal Chemotaxis
- Leonine Facies
- Cold (Non-Inflamed) Staph Aureus Abscesses
- Retained Primary Teeth
- Eczema
- Prophylactic Antibiotics
IL-12 Receptor Deficiency
- IL-12 Secreted by Macrophages
- Decreased Th1 Response
- Decreased IFN Gamma
- Mycobacterial Infections
- Salmonella
Chronic Mucocutaneous Candidiasis
- T Cell Dysfunction
- Candida Albicans
- Infections of Skin
- Infections of Mucous Membrane
- Susceptible to HPV Infections like Condyloma Acuminatum
Severe Combined Immunodeficiency (SCID)
- Both B and T Cell Deficiency
- Recurrent Viral, Bacterial, Fungal, Protozoal Infections
- Defective Interleukin (IL) 2 Receptor
- X-Linked
- Adenosine Deaminase Deficiency
- Failure to Synthesize MHC II Antigens
- Treat with Bone Marrow Transplant
Wiskott Aldrich
- X-linked Recessive
- WASp Protein Mutation
- Antigen Presentation Defect
- Progressive Deletion of B and T Cells
- Thrombocytopenia
- Eczema
- Infections
- Decreased IgM
- Increased IgE, IgA
Hyper IgM Syndrome
- Deficient CD40 Ligand on Helper T-cells
- Defective CD40 Receptor on B-cells
- Inability to Class Switch
- Pyogenic Abscess
- Decreased IgG, IgA, IgE
Ataxia Telangiectasia
- Autosomal Recessive
- ATM Gene
- Defect in DNA repair
- Cerebellar defects
- Spider Angiomas
- Sensitive to Radiation
- Defective Tumor Suppressor Gene
- Increased risk of Cancer, Leukemias, and Lymphomas
- Increased AFP levels
- IgA deficiency
- Repeated sinopulmonary infections
Chronic Granulomatous Disease
- Most Commonly X-linked Recessive
- Defective NADPH Oxidase (Enzyme Complex)
- Decreased Hydrogen Peroxide
- Impaired Intracellular Killing in Phagocytes
- Recurrent Purulent Skin and Lung Infections
- Catalase Positive Organisms
- Negative Nitroblue Tetrazolium Test
- DHR (Dihydrorhodamine) Flow Cytometry
- Antimicrobial Prophylaxis
- TMP-SMX
- Itraconazole
- Interferon-Gamma
Chediak-Higashi Syndrome
- Autosomal Recessive
- Defective Lysosomal Trafficking Regulator Gene (LYST)
- Defect In Microtubular Function
- Decrease In Phagocytosis
- Recurrent Pyogenic Infections
- Staph Aureus And Streptococci
- Partial Albinism
- Peripheral Neuropathy
- Pancytopenia
- Giant Granules In Granulocytes And Platelets
Leukocyte Adhesion Deficiency
- Autosomal Recessive
- Integrin CD18 Protein
- Defect in LFA-1
- Attached to ICAM
- Neutrophilia
- Bacterial Infections
- Non-Pyogenic
- Delayed Separation of Umbilical Cord
Human Immunodeficiency Virus (HIV) Assessment
- RNA Retrovirus
- CD4+ Helper T Cells
- Flu-like Symptoms
- Lymphadenopathy
- Fatigue
- Diarrhea
- Unexplained Weight Loss
- White Spots on Tongue
- Persistent Fever
- Night Sweats
Human Immunodeficiency Virus (HIV) Diagnosis
- HIV-1/2 Antigen/Antibody Immunoassay
- HIV-1/2 Antibody Differentiation Immunoassay
- Nucleic Acid Testing (NAT)
- Viral Load
- Polymerase Chain Reaction (PCR) in Neonates
Human Immunodeficiency Virus (HIV) Stages
- Primary Infection
- Within 3 Weeks
- Flu-like Symptoms
- Asymptomatic Stage
- Years
- Symptomatic Stage
- CD4+ < 500
- AIDS
- Opportunistic Infections
- CD4+ < 200
Human Immunodeficiency Virus (HIV) Interventions
- Adequate Nutrition
- Small Frequent Meals
- IV Hydration
- Emotional Support
- HAART
- Transmission Education
- Strict Asepsis for Invasive Procedures
- Treat Opportunistic Infections
HIV Prophylaxis Medications
- CD4+ < 200
- TMP-SMX
- Pneumocystis Pneumonia
- CD4+ < 100 Susceptible to Toxoplasma Gondii
- CD4+ < 50
- Mycobacterium Avium and Intracellulare
- Azithromycin If Delayed Therapy
HIV CD4+ 500
- Candida albicans (Oral Thrush)
- Kaposi's Sarcoma (HHV-8)
- Human Papillomavirus (HPV)
- Epstein-Barr Virus (Oral Hairy Leukoplakia)
HIV CD4+ 200
- Herpes Simplex Virus (HSV)
- JC Virus
- Progressive Multifocal Leukoencephalopathy (PML)
- Pneumocystis Pneumonia
- (HIV) Dementia
- Histoplasmosis
HIV CD4+ 100
- Aspergillus fumigatus
- Cryptococcus neoformans
- Candida albicans (Esophagitis)
- Mycobacterium avium complex (MAC)
- Cytomegalovirus (CMV)
- Epstein-Barr virus (EBV) B-cell lymphoma
- Toxoplasma gondii
- Cryptosporidium
- Bartonella henselae