Immunodeficiencies: Presentation Flashcards
X-linked agammaglobulinemia
Recurrent bacterial and enteroviral infections after 6 mo
Selective IgA deficiency
Decreased IgA with normal IgG and IgM; increased susceptibility to Giardia; anaphylaxis to IgA-containing products
Common variable immunodeficiency
Increased risk of autoimmunity, bronchiectasis, lymphoma, sinopulmonary infections, decreased plasma cells, decreased immunoglobulins
DiGeorge Syndrome
Hypocalcemia (tetany), recurrent viral/fungal infections, congenital cardiovascular abnormalities
IL-12 receptor deficiency
Disseminated mycobacterial and fungal infections; decreased IFN-gamma
Autosomal dominant hyper-IgE (Job) syndrome
Coarse facies, noninflammed staph abscesses, retained primary teeth, dermatologic problems (eczema), bone fractures from minor trauma
Chronic mucocutaneous candidiasis
Noninvasive Candida albicans infections of skin and mucous membranes
Severe combined immunodeficiency
Failure to thrive, chronic diarrhea, thrush; recurrent viral, bacterial, fungal, and protozoal infections,
Ataxia-telangiectasia
Ataxia, telangiectasia, IgA deficiency
Hyper-IgM syndrome
Severe pyogenic infections early in life; oppurtunistic infections with pneumocystis, cryptosporidium, CMV
Wiskott-Aldrich syndrome
Thrombocytopenia, eczema, recurrent pyogenic infections
Leukocyte adhesion deficiency
Recurrent skin and mucosal bacterial infections, absent pus, impaired wound healing, DELAYED SEPARATION OF UMBILICAL CORD
Chediak-HIgashi syndrome
Recurrent pyogenic infections by staph and strep; partial albinism; peripheral neuropathy, progressive neurodenegeration, infiltrative lymphohistiocytosis
Chronic granulomatous disease
Increased susceptibility to catalase + organisms
