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
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
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
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
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
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
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