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First Aid for the USMLE Step 2 CK (10th Ed.) | Medicine (MD/DO) School Study Aid

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

2 mins

Complement Disorders

Early Complement Deficiency

Pyogenic Infections

SLE

Sinus Infections

Terminal Complement Deficiency

Autosomal Recessive

Neisseria Infections

C5-C9

MAC (Membrane Attack Complex)

4 mins

Common Variable Immunodeficiency

Defect in B Cell Maturation

Decreased Plasma Cells

Decreased Immunoglobulins

Sinopulmonary Infections

Increased Risk of Autoimmune Disease

Lymphoma

1 min

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

2 mins

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

2 mins

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

4 mins

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

2 mins

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

2 mins

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

2 mins

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

3 mins

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

2 mins

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

2 mins

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

2 mins

C1 Esterase Inhibitor Deficiency

Autosomal Dominant

Disinhibition of Kallikrein

Increased Bradykinin

Decreased C4

Recurrent Angioedema

Upper Airway Obstruction

ACE Inhibitors Contraindicated

Avoid Triggers

3 mins

Kawasaki Disease

Prevalent in Asian Children

Necrotizing Vasculitis

Fever

Strawberry-Red Tongue and Mucosa

Lymphadenopathy

Desquamative Skin Rash

Erythema and Edema of the Hands and Feet

Conjunctivitis

Coronary Aneurysm

Intravenous Immunoglobulin (IVIG)

Aspirin

2 mins

Systemic Juvenile Idiopathic Arthritis Characteristics and Presentation

Idiopathic

Still's Disease

Autoimmune Joint Destruction

Onset < 16 Years Old

Arthritis

Quotidian Fever

Evanescent Exanthem

Lymphadenopathy

Hepatosplenomegaly

2 mins

Systemic Juvenile Idiopathic Arthritis Diagnosis and Management

Increased Ferritin

Glucocorticoids

Tocilizumab

Anakinra

Joint Deformities

Limb-Length Discrepancy

Uveitis

Macrophage Activation Syndrome

Variable Prognosis

2 mins

Hemophagocytic Lymphohistiocytosis

Excessive Immune System Activation

Cytotoxic T-cells and Macrophages

Cytokine Storm

Acquired or Sporadic

Fever

Hepatosplenomegaly

Increased Ferritin

Pancytopenia

Bone Marrow Transplantation

3 mins

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