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    Pediatrics Immunology PDF

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    nikhil
    This document summarizes various immune deficiencies, including the defective gene or pathway, typical presentation of symptoms, and common clinical findings. It describes deficiencies that affect B cells, such as X-linked agammaglobulinemia which results in a lack of B cell maturation. It also covers T cell deficiencies, like IL-12 receptor deficiency which leads to disseminated mycobacterial and fungal infections. The document additionally outlines combined B and T cell deficiencies, such as severe combined immunodeficiency, and phagocyte dysfunctions like leukocyte adhesion deficiency type 1 that results in recurrent bacterial skin infections.

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    Pediatrics Immunology PDF

    Uploaded by

    nikhil
    81 views2 pages
    This document summarizes various immune deficiencies, including the defective gene or pathway, typical presentation of symptoms, and common clinical findings. It describes deficiencies that affect B cells, such as X-linked agammaglobulinemia which results in a lack of B cell maturation. It also covers T cell deficiencies, like IL-12 receptor deficiency which leads to disseminated mycobacterial and fungal infections. The document additionally outlines combined B and T cell deficiencies, such as severe combined immunodeficiency, and phagocyte dysfunctions like leukocyte adhesion deficiency type 1 that results in recurrent bacterial skin infections.

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    Pediatrics Immunology.pdf

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    This document summarizes various immune deficiencies, including the defective gene or pathway, typical presentation of symptoms, and common clinical findings. It describes deficiencies that affect B cells, such as X-linked agammaglobulinemia which results in a lack of B cell maturation. It also covers T cell deficiencies, like IL-12 receptor deficiency which leads to disseminated mycobacterial and fungal infections. The document additionally outlines combined B and T cell deficiencies, such as severe combined immunodeficiency, and phagocyte dysfunctions like leukocyte adhesion deficiency type 1 that results in recurrent bacterial skin infections.

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    © All Rights Reserved
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    81 views2 pages

    Pediatrics Immunology PDF

    Uploaded by

    nikhil
    This document summarizes various immune deficiencies, including the defective gene or pathway, typical presentation of symptoms, and common clinical findings. It describes deficiencies that affect B cells, such as X-linked agammaglobulinemia which results in a lack of B cell maturation. It also covers T cell deficiencies, like IL-12 receptor deficiency which leads to disseminated mycobacterial and fungal infections. The document additionally outlines combined B and T cell deficiencies, such as severe combined immunodeficiency, and phagocyte dysfunctions like leukocyte adhesion deficiency type 1 that results in recurrent bacterial skin infections.

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    of 2

    212 SECTION II I M M U NOLOGY ` 

    IMMUNOLOGYIMMUNE RESPONSES

    Immune deciencies
    DISEASE DEFECT PRESENTATION FINDINGS
    B-cell disorders
    X-linked (Bruton) Defect in BTK, a tyrosine Recurrent bacterial and Normal CD19+ B cell count,
    agammaglobulinemia kinase gene p no B cell enteroviral infections after 6 r pro-B, r g of all classes.
    maturation. X-linked recessive months (r maternal IgG). Absent/scanty lymph nodes and
    (q in Boys). tonsils.
    Selective IgA Unknown. Most common 1 Majority Asymptomatic. IgA < 7 mg/dL with normal
    deciency immunodeciency. Can see Airway and GI IgG, IgM levels.
    infections, Autoimmune
    disease, Atopy, Anaphylaxis to
    IgA-containing products.
    Common variable Defect in B-cell differentiation. Can be acquired in 20s30s; r plasma cells,
    immunodeciency Many causes. q risk of autoimmune disease, r immunoglobulins.
    bronchiectasis, lymphoma,
    sinopulmonary infections.
    T-cell disorders
    Thymic aplasia 22q11 deletion; failure Tetany (hypocalcemia), r T cells, r PTH, r Ca2+.
    (DiGeorge syndrome) to develop 3rd and 4th recurrent viral/fungal Absent thymic shadow on
    pharyngeal pouches p absent infections (T-cell deciency), CXR.
    thymus and parathyroids. conotruncal abnormalities 22q11 deletion detected by
    (e.g., tetralogy of Fallot, FISH.
    truncus arteriosus).
    IL-12 receptor r Th1 response. Autosomal Disseminated mycobacterial r IFN-.
    deciency recessive. and fungal infections; may
    present after administration of
    BCG vaccine.
    Autosomal dominant Deciency of Th17 cells due to FATED: coarse Facies, cold q IgE, r IFN-.
    hyper-IgE syndrome STAT3 mutation p impaired (noninamed) staphylococcal
    (Job syndrome) recruitment of neutrophils to Abscesses, retained primary
    sites of infection. Teeth, q IgE, Dermatologic
    problems (eczema).
    Chronic T-cell dysfunction. Many Noninvasive Candida albicans Absent in vitro T-cell
    mucocutaneous causes. infections of skin and mucous proliferation in response to
    candidiasis membranes. Candida antigens.
    Absent cutaneous reaction to
    Candida antigens.
    I M M U NOLOGY ` 
    IMMUNOLOGYIMMUNE RESPONSES SECTION II 213

    Immune deciencies (continued)


    DISEASE DEFECT PRESENTATION FINDINGS
    B- and T-cell disorders
    Severe combined Several types including Failure to thrive, chronic r T-cell receptor excision
    immunodeciency defective IL-2R gamma chain diarrhea, thrush. Recurrent circles (TRECs).
    (SCID) (most common, X-linked), viral, bacterial, fungal, and Absence of thymic shadow
    adenosine deaminase protozoal infections. (CXR), germinal centers
    deciency (autosomal Treatment: bone marrow (lymph node biopsy), and
    recessive). transplant (no concern for T cells (ow cytometry).
    rejection).
    Ataxia-telangiectasia Defects in ATM gene p DNA Triad: cerebellar defects q AFP.
    double strand breaks p cell (Ataxia), spider Angiomas r IgA, IgG, and IgE.
    cycle arrest. (telangiectasia), IgA Lymphopenia, cerebellar
    deciency. atrophy.
    Hyper-IgM syndrome Most commonly due to Severe pyogenic infections q IgM.
    defective CD40L on Th early in life; opportunistic rr IgG, IgA, IgE.
    cells = class switching defect; infection with Pneumocystis,
    X-linked recessive. Cryptosporidium, CMV.
    Wiskott-Aldrich Mutation in WAS gene WATER: Wiskott-Aldrich: r to normal IgG, IgM.
    syndrome (X-linked recessive); T cells Thrombocytopenic purpura, q IgE, IgA.
    unable to reorganize actin Eczema, Recurrent Fewer and smaller platelets.
    cytoskeleton. infections.
    q risk of autoimmune disease
    and malignancy.
    Phagocyte dysfunction
    Leukocyte adhesion Defect in LFA-1 integrin Recurrent bacterial skin and q neutrophils.
    deciency (type 1) (CD18) protein on mucosal infections, absent Absence of neutrophils at
    phagocytes; impaired pus formation, impaired infection sites.
    migration and chemotaxis; wound healing, delayed
    autosomal recessive. separation of umbilical cord
    (>30 days).
    Chdiak-Higashi Defect in lysosomal trafcking Recurrent pyogenic Giant granules in neutrophils
    syndrome regulator gene (LYST). infections by staphylococci and platelets.
    Microtubule dysfunction in and streptococci, partial Pancytopenia.
    phagosome-lysosome fusion; albinism, peripheral Mild coagulation defects.
    autosomal recessive. neuropathy, progressive
    neurodegeneration, inltrative
    lymphohistiocytosis.
    Chronic Defect of NADPH oxidase q susceptibility to catalase Abnormal dihydrorhodamine
    granulomatous pr reactive oxygen species organisms (PLACESS): (ow cytometry) test.
    disease (e.g., superoxide) and Pseudomonas, Listeria, Nitroblue tetrazolium dye
    absent respiratory burst Aspergillus, Candida, E. coli, reduction test is (test out of
    in neutrophils; X-linked S. aureus, Serratia. favor).
    recessive.

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