gsafsaf's version from 2015-07-20 14:39

B Cell Disorders

Question Answer
X-linked agammaglobulinemiaDefect in BTK --> no B cell maturation
X-linked agammaglobulinemiarecessive inheritance
X-linked agammaglobulinemiarecurrent bacterial + enteroviral infxns post 6mo.
X-linked agammaglobulinemiaAbsent B cells, decreased Ig (all classes)
X-linked agammaglobulinemiaAbsent/scarce lymph nodes + tonsils
BTKtyrosine kinase gene
Selective IgA deficiencyMC immunodeficiency
Selective IgA deficiencyunknown cause
Selective IgA deficiencyasymptomatic or airway+GI infxns, autoimmune dz, anaphylaxis to IgA
Selective IgA deficiencydecreased IgA
Selective IgA deficiencynormal IgG+IgM
Common variable immunodeficiencydefective B-cell differentiation
Common variable immunodeficiencymany causes
Common variable immunodeficiencycan be acquired in 20s/30s
Common variable immunodeficiencyincreased risk of autoimmune dz, bronchiectasis, lymphoma, sinopulm. infxns
Common variable immunodeficiencydecreased plasma cells, decreased Igs

T cell disorders

Question Answer
DiGeorgefailed 3+4th pharyngeal pouches --> absent thymus + parathyroid
DiGeorgehypoCa2+, decreased PTH, decreased T cells
DiGeorgetetany, viral+fungal infxns, tetralogy of Fallot, truncus arteriosus abnormalities, cleft palate
DiGeorgeabsent thymic shadow, 22q11 deletion
IL-12 receptor deficiencydecreased Th1 response, decreased IFN-gamma
IL-12 receptor deficiencyAR
IL-12 receptor deficiencymycobacterial+fungal infxns
Hyper IgE syndromedeficiency of Th17 cells, impaired neutrophil recruitment
Hyper IgE syndromeAD, STAT3 mutation
Hyper IgE syndromeIncreased IgE, decreased IFN-gamma
Hyper IgE syndromecold (noninflamed) abscesses, retained primary teeth, eczema, coarse facies
Chronic mucocutaneous candidiasisMany causes, Absent in vitro T-cell proliferation/cutaneous rxn to Candida
Chronic mucocutaneous candidiasisnoninvasive Candida infxns of skin+mucous

B+T cell disorders

Question Answer
SCIDMC is X-linked defective IL-2R gamma chain
SCIDAR adenosine deaminase deficiency
SCIDfailure to thrive, diarrhea+thrush, & recurrent viral, bacterial, fungal, protozoal infxns
SCIDRx - bone marrow transplant (no concern for rejection)
SCIDdecreased T cell receptor excision circles, absent thymic shadow, absent germinal centers
Ataxia-telangiectasiaATM gene defect --> failure to repaire dsDNA breaks
Ataxia-telangiectasiatriad of ataxia, angiomas, IgA deficiency
Ataxia-telangiectasiaincreased AFP, decreased IgA, IgG, IgE
Ataxia-telangiectasialymphopenia, cerebellar atrophy
Hyper-IgM syndromeSuper decreased IgA, IgG, IgE, increased IgM
Hyper-IgM syndromeMC due to defective CD40L on Th cells; class switching defect
Hyper-IgM syndromeXLR
Hyper-IgM syndromesevere pyogenic infxns early in life, PCP, CMV
Wiskott-Aldrich syndromeXLR
Wiskott-Aldrich syndromeWAS gene mutation --> T cells cannot reorganize actin cytoskeleton
Wiskott-Aldrich syndromeThrombocytopenia, Eczema, Recurrent infxns
Wiskott-Aldrich syndromeincreased risk of autoimmune dz + malignancy
Wiskott-Aldrich syndromedecreased IgG+IgM, increased IgE, IgA

Phagocyte dysfunction

Question Answer
Leukocyte adhesion deficiency type 1impaired migration + chemotaxis
Leukocyte adhesion deficiency type 1AR, defect in CD18 (integrin) on phagocytes
Leukocyte adhesion deficiency type 1Recurrent bacterial skin + mucosal infxns, absent pus formation
Leukocyte adhesion deficiency type 1increased neutrophils, but absence of them at infxn sites
Chediak Higashi syndromeAR, defect in lysosomal trafficking regulator gene (LYST)
Chediak Higashi syndromemicrotubule dysnfunction in phagosome-lysosome fusion
Chediak Higashi syndromerecurrent pyogenic Staph + Strep, partial albinism, infiltrative lymphohistiocytosis
Chediak Higashi syndromeperipheral neuropathy, progressive neurodegeneration
Chediak Higashi syndromepancytopenia, mild coag. defects, giant granules in granulocytes + platelets
CGDDefect in NADPH oxidase --> decreased ROS + resp. burst in neutrophils
CGDIncreased susceptibility to catalase+
CGDabnormal dihydrorhodamine test, negative nitroblue tetrazolum dye reduction test

Infxn patterns in Immunodeficiency

Question Answer
Bacterial infxns w decreased T cellssepsis
Viral infxns w decreased T cellsCMV, EBV, JCV, VZV, resp/GI viruses
Fungi/parasite infxns w decreased T cellsCandida, PCP
Bacterial infxns w decreased B cellsencapsulated species
viral infxns w decreased B cellsenteroviral encephalitis (polio vaccine C/I)
fungi/parasite infxns w decreased B cellsGiardia (no IgA)

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