Immunodeficiencies Flashcards
Bruton’s agammaglobulinemia: inheritance
x-linked recessive
Bruton’s agammaglobulinemia: lab findings (4)
Normal pro-B
low maturation
low number of B cells
low Ig of all classes
Bruton’s agammaglobulinemia: presentation
recurrent bacterial infections after 6 months
Bruton’s agammaglobulinemia: defect
defective BTK (tyrosine kinase)
Selective Ig deficiency: defect
Defect in isotype switching leads to low level of a specific Ig class
Hyper-IgM syndrome: defect
defective CD40L (T cells) impairs class switching
Hyper-IgM syndrome: presentation
severe pyogenic infections early in life
Hyper-IgM syndrome: labs (2)
High IgM
very low other classes
Selective Ig deficiency: presentation (3)
sinus and lung infections
milk allergies and diarrhea
Anaphylaxis when exposed to IgA
Selective Ig deficiency: labs
IgA deficiency most common
Common variable immunodeficiency (CVID): defect
Poor b-cell differentiation
Common variable immunodeficiency (CVID): presentation (2)
acquired in 20s-30s
increased risk of autoimmune disease, lymphoma, sinopulmonary infections
Common variable immunodeficiency (CVID): labs (3)
Normal number of B cells
low plasma cells
low immunoglobulin
Thymic aplasia (DiGeorge’s): defect
22q11 deletion, failure to develop 3rd and 4th pharyngeal pouches
Thymic aplasia (DiGeorge’s): presentation (3)
Tetany
recurrent viral/fungal infections
congenital heart/great vessel defects
Thymic aplasia (DiGeorge’s): labs (4)
Low T cells
Low PTH
Low Ca
No thymic shadow
IL-12 receptor deficiency: defect
low Th1 response
IL-12 receptor deficiency: presentation
Disseminated mycobacterial infections
IL-12 receptor deficiency: labs
low IFN-gamma
Hyper-IgE syndrome (Job’s): defect
Th cells fail to produce IFN-gamma, inability of neutrophils to respond to chemotaxis
Hyper-IgE syndrome (Job’s): presentation (5)
coarse Facies cold staphylococcal Abscesses retained primary Teeth increased igE Dermatologic problems (eczema)
Hyper-IgE syndrome (Job’s): labs
high IgE (if you don’t answer this one correctly, slap yourself in the face. hard)
Chronic mucocutaneous candidiasis: defect
T cell dysfunction
Chronic mucocutaneous candidiasis: presentation
Candida Albicans infections of skin and mucous membranes
SCID: defect (3 types)
Defective IL-2 receptor (most common)
SCID: presentation
Recurrent infections of any kind
SCID: treatment
BMT
SCID: labs (2)
low IL-2r (low T-cell activation) high adenine (toxic to B and T cells)
Ataxia-telengiectasia: defect
defect in DNA repair enzymes
Ataxia-telengiectasia: presentation (3)
Cerebellar defects
Spider angiomas
IgA deficiency
Ataxia-telengiectasia: labs
IgA deficiency
Wiskott-Aldrich syndrome: defect
x-linked recessive, progressive deletion of B and T cells
Wiskott-Aldrich syndrome: presentation (3)
Thrombocytopenic purpura
Infections
Eczema
Wiskott-Aldrich syndrome: labs (3)
high IgE
high IgA
high IgM
Leukocyte adhesion deficiency (type 1): defect
Defect in CD18 protein (LFA-1 integrin) on phagocytes
Leukocyte adhesion deficiency (type 1): presentation (3)
Recurrent bacterial infections
Absent pus formation
Delayed separation of umbilicus
Leukocyte adhesion deficiency (type 1): labs
Neutrophilia
Chediak-Higashi syndrome:defect
autosomal recessive defect in microtubular function with low phagocytosis
Chediak-Higashi syndrome: presentation (3)
Recurrent staphy/streptococci pyogenic infections
Partial albinism
Peripheral neuropathy
Chronic granulomatous disease: defect
Lack of NADPH oxidase leads to less reactive ;oxygen species, absent respiratory burst in neutrophils
Chronic granulomatous disease: presentation
susceptibility to catalase-positive organisms (S aureus, E coli, Aspergillus)
Chronic granulomatous disease: labs
Negative Nitroblue tetrazolium dye reduction test
