Primary Immunodeficiencies Flashcards
Most common primary immunodef
IgA def
X linked recessive, males, low B cells, infections after 6 months when no more mom Ab, poor response to vaccines
Bruton aggamglobulinemia/X-linked
Hypoplasia of third and fourth pharyngeal pouches
DiGeorge
Autosomal recessive or X-linked, caused by adenosine deamine def
SCID
X link rec, male, triad: eczema, thrombocytopenia, recurrent infections(usu resp)
Wiskot Aldrich
X linked rec (male), defect in NADPH oxidase therefore recurrent infections with catalase + bugs like STaph aureus and Pseudomonas
Chronic granulomatous
Autosomal recessive, giant granules in neutrophils with oculocutaneous albinism, due to defect in microtubule polymerization
Chediak Higashi
Cellular immunodef for Candida, assoc with hypothyroidism
Chronic mucocutaneous candidiasis
Recurrent staph infections, fair skin, red hair, eczema
Hyper IgE/Job-Buckley
Poor vaccine response, susceptible to P jiroveci, sinopulm, GI infection
Hyper IgM with elevated IgM and low IgG and IgA
Delayed separation umbilical cord, necrotic skin lesions, early loss of teeth
Leukocyte adhesion defect
Presents at 6 months, prone to bacterial infections
Abnormal B lymphocyte maturation
What is low in IgA def
What should you not give
IgA and IgG
Do not give immunoglobulins: cause development of anti-IgA Ab - if anaphylaxis after give Ab think IgA def
Common infections: Strep and Haemophilus
X linked aggamaglobulinemia/Bruton’s
Hypocalemia and tetany in first 24-48 hrs of life, absent or hypoplastic thymus, congenital heart defect, fungal and viral infections common
DiGeorge
