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Immune Deficiencies

DescriptionDisease
Female with increased IgE levels and eczema Job's hyper-IgE syndrome (Wiskott-Aldrich is x-linked, Job's is autosomal)
Male with increased IgE levels and eczema; normal platelet count Job's hyper-IgE syndrome
Patient with increased IgE levels and eczema; thrombocytopenic purpura Wiskott-Aldrich syndrome
Absence of thymic shadow on CXR; recurrent viral, bacterial, fungal, and protozoal infections Severe combined immunodeficiency (DiGeorge only has low T cells, SCID has low T & B cells)
Decreased IgA; recurrent sinopulmonary infections; increased risk of cancer Common variable immunodeficiency (this may present with any combination of deficient immunoglobulins)
X-linked CD40 ligand mutation; B cell defect Hyper-IgM syndrome
X-linked tyrosine kinase gene mutation; B cell defect Bruton's agammaglobulinemia
Severe pyogenic infections at young age; large quantities of a pentameric immunoglobulin in the serum; other immunoglobulin levels are decreased Hyper-IgM syndrome
Candida albica infections of skin and mucous membranes; T-cell dysfunction Chronic mucocutaneous candidiasis
Kinase defect leading to cerebellar problems, spider angiomas, and recurrent sinopulmonary infections Ataxia-telangiectasia
Defect in B-cell maturation; increased risk of comorbid autoimmune disease; labs show normal number of B cells, but low plasma cells Common variable immunodeficiency
Failure of 3rd and 4th pharyngeal pouches to develop DiGeorge syndrome
Most common primary antibody deficiency; patients may get sinus & lung infections, milk allergies, and diarrhea Selective IgA deficiency
Recurrent viral and fungal infections, hypocalcemia, velocardiofacial syndrome DiGeorge syndrome
Isotype switching defect; commonly occurs with celiac disease Selective IgA deficiency
22q11 deletion; absence of thymic shadow on CXR DiGeorge syndrome
IL-2 chemokine receptor mutation leading to recurrent viral, bacterial, fungal, and protozoal infections Severe combined immunodeficiency (x-linked form, which is more common)
Adenosine deaminase deficiency Severe combined immunodeficiency (autosomal recessive form)
ATM gene defect, which codes for DNA repair enzymes Ataxia-telangiectasia
Common gamma chain defect leading to a defective IL-7 receptor; failure to synthesize MHC-II antigens Severe combined immunodeficiency
Commonly occurs with tetralogy of Fallot or truncus arteriosus DiGeorge syndrome (mnemonic is "CATCH-22": Cardiac abnormalities, Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia/Hypoparathyroidism, 22q11 deletion)
Normal pre-B cells in the bone marrow, but not in the periphery; recurrent bacterial infections after 6 months Bruton's agammaglobulinemia
Created by: kesselmb