Hyper-IgM Syndrome
Overview Epidemiology Pathophysiology Classification There are various conditions that belong to hyper-IgM syndrome. Because of the rareness of the syndrome, only the most common causes are mentioned below. CD40 ligand (CD40L) deficiency Activation-induced cytidine deaminase (AID) deficiency Clinical Presentation The median age at onset for hyper-IgM syndrome is approximately 2 years. It often takes a […]
Myeloperoxidase Deficiency
Epidemiology and Etiology Epidemiology Etiology Genetic mutation: Primary MPO deficiency: Acquired (secondary) MPO deficiency: Pathophysiology and Clinical Presentation Pathophysiology Neutrophils are the 1st line of defense against pathogens: MPO-deficient neutrophils: Clinical presentation Diagnosis and Management Diagnosis Management Because most patients are asymptomatic, no specific treatment for MPO deficiency is required. Differential Diagnosis References
Leukocyte Adhesion Deficiency Type 1
Epidemiology and Etiology Epidemiology Etiology Pathophysiology and Clinical Presentation Pathophysiology Clinical presentation Diagnosis and Management Diagnosis Management Differential Diagnosis References
Chédiak-Higashi Syndrome
Overview Epidemiology Etiology Pathophysiology Clinical Presentation General signs and symptoms Signs and symptoms that usually appear soon after birth include the following: Late-onset neurological manifestations that appear in individuals who survive early childhood with curative treatment: Accelerated phase Chédiak-Higashi syndrome (CHS) can progress to the accelerated phase characterized by hemophagocytic lymphohistiocytosis (HLH), where hyperactive WBCs […]
AIDS-defining Conditions
Overview The tables below summarize the defining conditions of acquired immunodeficiency syndrome (AIDS). Table: Bacterial infections AIDS-defining condition CD4 count (cells/µL) Clinical presentation Management (in addition to HIV treatment) Mycobacterium avium complex < 50 Disseminated: fever, weight loss, night sweats, abdominal pain, diarrhea Lymphadenitis Treatment: macrolide and ethambutol Mycobacterium tuberculosis < 200 Pulmonary: fever, cough, […]
HIV Infection and AIDS
Epidemiology Worldwide United States Etiology and Transmission HIV Modes of HIV transmission Sexual: Parenteral: Vertical: Factors affecting transmission Pathophysiology HIV replication cycle Natural history Acute phase (infection, dissemination, retroviral syndrome): Chronic phase/clinical latency: AIDS: Clinical Presentation Categories of HIV infection The Centers for Disease Control and Prevention (CDC) classification notes that CD4+ T lymphocyte count […]
Hereditary Angioedema (C1 Esterase Inhibitor Deficiency)
Overview Definition Hereditary angioedema (HAE) is a hereditary condition featuring recurrent episodes of swelling (angioedema), usually of the mucosa of the respiratory and gastrointestinal (GI) systems, without urticaria or itching. Epidemiology Etiology Genetic mutations are the cause of HAE: Pathophysiology and Types The basic pathophysiology of swelling in HAE has to do with the overproduction of […]
C3 Deficiency
Overview Epidemiology Complement component 3 (C3) deficiency is part of the larger category of complement deficiencies: Etiology Pathophysiology Diagnosis Clinical presentation Laboratory testing Clinical testing directed by pattern of infection: Management Management of patients with C3 deficiency centers on prevention of illness. Prevention of infection Treatment of infection References
Transfusion Reactions
Hemolytic Reactions Acute hemolytic transfusion reaction Delayed hemolytic transfusion reaction Nonhemolytic Reaction Febrile nonhemolytic transfusion reaction (FNHTR) Allergic Reactions Other Types of Transfusion Reactions Transfusion-related acute lung injury (TRALI) Graft-versus-host disease (GvHD) Transfusion-associated circulatory overload (TACO) References
Vaccination
Overview Active and Passive Immunization Active immunization Passive immunization Types of Active Vaccines Table: Types of active vaccines Vaccine type Description Pros Cons Examples Live attenuated Microorganism loses its pathogenicity but retains capacity for transient growth within inoculated hosts. Induces cellular and humoral responses Induces strong, often lifelong immunity May revert to virulent form Often […]