Disease presentation/(Name, Type, Defect, Findings) Flashcards
Recurrent bacterial (usually respiratory) and enteroviral infections after 6 months (decreased maternal IgG)
- X-linked agammaglobulinemia (Bruton)
- B-cell disorder
- Defect in BTK, a tyrosine kinase gene resulting in no B cell maturation (X-linked recessive)
- Absent B cells in peripheral blood, decrease Ig of all classes. Absent/scanty lymph nodes and tonsils (no germinal centers or plasma cells)
- Most commonly infected with H. influenzae, S. pneumoniae and S. aureus
Majority asymptomatic. Can see airway and GI infections, autoimmune disease, atopy, anaphylaxis to IgA-containing products
- Selective IgA deficiency
- B-cell disorder
- Unknown (most common primary immunodeficiency)
- Decrease IgA with normal IgG, IgM levels
Can be acquired in 20s-30s; GI and sinopulmonary infections with increase risk of autoimmune disease, bronchiectasis, non-Hodgkin lymphoma, and gastric cancer
- Common variable immunodeficiency
- B-cell disorder
- Defect in B cell differentiation (many causes)
- Decreased plasma cells and Igs
- Commonly infected with G. lamblia
Tetany (hypocalcemia) by Chvostek’s and Trousseau’s signs, recurrent viral/fungal infections, conotruncal abnormalities (TOF, truncus arteriosus)
- Thymic aplasia (DiGeorge syndrome)
- T-cell disorder
- 22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches resulting in absent thymus and parathyroids
- Decreased T cells, PTH, and Ca++. Absent thymic shadow on CXR. 22q11 deletion detected by FISH
- Nothing common
Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccine
- IL-12 receptor deficiency
- T-cell disorder
- Decreased Th1 response
- Decreased IFN-gamma
Coarse facies, cold (non-inflamed) staphylococcal abscesses, retained primary teeth, dermatologic problems (eczema)
- Hyper IgE syndrome (Job syndrome) (AD)
- T-cell disorder
- Deficiency of Th17 cells due to STAT3 mutation which results in impaired recruitment of neutrophils to sites of infection
- Increased IgE and Decreased IFN-gamma
Non-invasive C. albicans infection of the skin and mucous membranes
- Chronic mucocutaneous candidiasis
- T-cell disorder
- T cell dysfunction (many causes)
- Absent in vitro T cell proliferation in response to Candida antigens. Absent cutaneous reaction to Candida antigens
Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal and protozoal infections.
- Severe combined immunodeficiency (SCID)
- B and T cell disorder
- Several types including defective IL-2R gamma chain (most common, X-linked), adenosine deaminase deficiency (AR)
- Decreased T cell receptor excision circles (TRECs). Absent thymic shadow on CXR, germinal centers (lymph node biopsy), and T cells (flow cytometry)
- Commonly infected with Candida, CMV, and P. carinii
Cerebellar defects (ataxia), spider angiomas (telangiectasia)
- Ataxia telangiectasia
- B and T cell disorders
- Defects in ATM gene resulting in failure to repair DNA double strand breaks leading to cell cycle arrest
- Increased AFP, decreased IgA, IgG and IgE. Lymphopenia and cerebellar atrophy
Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium and CMV
- Hyper-IgM syndrome (X-linked recessive)
- B and T cell disorders
- Most commonly due to defective CD40L on Th cells resulting in class switching defect
- Normal or increased IgM. Severely decreased all other Igs
Thrombocytopenia, eczema, recurrent infections. Increase risk of autoimmune disease and malignancy (especially non-Hodgkin lymphoma)
- Wiskott-Aldrich syndrome (X-linked recessive)
- B and T cells disorders
- Mutations in WAS gene; T cells unable to reorganize actin cytoskeleton
- Decreased to normal IgG, IgM. Increased IgE and IgA. fewer and smaller platelets
- Nothing common
Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (>30 days)
- Leukocyte adhesion deficiency (type 1)
- Phagocyte dysfunction
- Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis
- Increased neutrophils but absent at infection sites
Recurrent pyogenic infections by staphylococci and streptococci, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis
- Chediak-Higashi syndrome
- Phagocyte dysfunction
- Defect in lysosomal trafficking regulator gene (LYST). Microtubule dysfunction in phagosome-lysosome fusion
- Giant granules in granulocytes and platelets. Pancytopenia. Mild coagulation defects
Increased susceptibility to Catalase +ve organisms
- Chronic granulomatous disease (X-linked recessive most common)
- Phagocyte dysfunction
- Defect of NADPH oxidase resulting in decreased reactive oxygen species and decreased respiratory burst in neutrophils
- Abnormal dihydrorhodamine (flow cytometry) test (decreased green fluorescence). Nitroblue tetrazolium dye reduction test obsolete
Hereditary angioderma
- C1 esterase inhibitor deficiency
- Complement disorders
- Unregulated kallikrein resulting in increased bradykinin (ACE inhibitors are contraindicated)
