Immunodeficiencies Flashcards Preview

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Flashcards in Immunodeficiencies Deck (12):

Bruton agammaglobulinema

Defect in BTK (tyrosine kinase gene)

No B cells

X-linked recessive

Recurrent bacterial and enteroviral infxns after 6 months old when maternal IgG decreases


Common variable immunodeficiency

Defect in B cell differentiation --> increased risk of autoimmune disease, bronchiectasis, lymphoma, infxns (less Ig)

Can be acquired


DiGeorge syndrome

Thymic aplasia

22q11 deletion, fail to develop 3rd and 4th pharyngeal pouches --> no thymus or parathyroids

T cell deficiency --> recurrent viral/fungal infxn

heart abnml (eg ToF)

No PTH --> hypoCa --> tetany


Job syndrome

Autosomal dominant hyper-IgE syndrome

Deficiencies of Th17 cells due to STAT3 mutation --> impaired recruitment of PMNs

Increased IgE, decreased IFN-gamma


Chronic mucocutaneous candidiasis

T cell dysfxn (many causes)


Severe combined immunodeficiency

Several types (eg IL-2R gamma chain defect - X linked, adenosine deaminase deficiency - autosomal recessive)

Tx: bone marrow transplant

No thymic shadow, no germinal centers in ln, no T cells on flow


Ataxia telangiectasia

ATM gene defect --> can't repair DNA ds breaks --> cell cycle arrest

CBL defects, spider angiomas, Ig deficiency

Increased AFP


Hyper-IgM syndrome

Defective CD40L on Th cells --> no class switching of B cells (so lots of IgM, but not much IgG, A, or E)

X-linked recessive

Lots of pyogenic infxns


Wiskott-Aldrich syndrome

Mutation in WAS gene (X-linked recessive)

T cells can't reorganize actin


Thrombocytopenic purpura
Recurrent infxns

Decreased IgG, Increased IgE/A, decreased, small plts


Leukocyte adhesion deficiency (type 1)

Defect in LFA-1 integrin (CD18) on phagocytes --> impaired migration and chemotaxis, so have increased neutrophils but not at the site of infxn where they're needed

Recurrent skin and mucosal bacterial infxns, delayed separation of umb cord

Autosomal recessive


Chediak-Higashi syndrome

Lysosomal trafficking defect (LYST), aut recessive

Granules accumulate in granulocytes and plts

Recurrent staph and strep infxns, partial albinism, peripheral neuropathy and neruodegeneration,



NADPH oxidase deficiency --> decreased ROS and increased susc to catalase pos orgs

X linked rec

Negative nitroblue tetrazolium test (stains for ROS)