Immunodeficinecy disorders Flashcards
A child with recurrent infections with pyogenic bacteria indicate a problem in?
B- cell (T-cell deficiency presents with problems with fungi, viruses or protozoa)
A 6 month old infant presents with recurrent skin abscess. What do you call this x-linked inherited disease? Mutation in which protein is the cause for this disease?
Bruton’s Disease; Tyrosine kinase mutation
Failure of isotype switching is the mechanism for this disease characterized by recurrent sinusitis and lung infections.
Selective IgA deficiency (DO NOT TREAT with IgA preparations since it will further aggravate the disease!)
What is the most common form of severe antibody deficiency affecting both children and adults?
Common Variable Immunodeficiency (defect in B cell maturation to plasma cell)
A child presents in the clinic with tetany and a history of severe viral and fungal infection during infancy. Which pharyngeal arches are defective during the child’s embryonic life?
The child has DI GEORGE SYNDROME caused by failure of the 3rd and 4th arches to develop hence no parathyroid (causing hypocalcemia) and THYMUS (no Tcell maturation) development
Which CARDIAC DEFECT is found in DiGeorge syndrome patients?
Tetralogy of Fallot
A 3 MONTH OLD child presents with recurrent viral, bacterial and fungal infection. The x-linked form of this disease has problems in which receptors?
IL-2 (The autosomal form of Severe Combined Immunodeficiency has deficient ADA enzyme)
A male infant presents to your clinic with pneumonia, itchy red dry skin and a history of bleeding mouth and gums. What do you call this X-linked syndrome which resulted from defective actin filament assembly? Which specific antibody response is defective?
Wiskott-Aldrich Syndrome. The patient presented with the calssic triad of Thrombocytopenia, Infection and Eczema. There is inability to mount IgM response due to a defective WASP gene which codes for actin filament assembly
A 5 year old child presents with a history of recurrent sinusitis and wobbly gait. On PE, there is (+) dilated vessels in the sclera appearing as “blood-shot” eyes. Which enzyme is defective in this child?
This is ATAXIA (wobbly gait) TELANGIECTASIA (dilated blood vessel). It is usually accompanied by IgA deficiency hence the recurrent sinusitis. The main problem is mutations in the DNA repair enzymes which ultimately causes the syndrome. *This is also known Louis-Bar syndrome
A patient with recurrent fungal infections was clinically investigated and was found out to have Normal B and T cell functions. The clinician began to think that the problem might be a lack of NADPH oxidase activity in the phagocytes. What do you call this condition? What is the diagnostic test to confirm the lack of oxidase activity?
Chronic Granulomatous Disease. Nitroblue-Tetrazolium test ( It is negative in CGD, meaning that it does not turn blue)
This rare autosomal recessive disease results from failure of phagolysosomal fusion resulting in recurrent pyogenic infections.
Chediak-Higashi Syndrome
An infant with a history of recurrent severe pyogenic infections and DELAYED SEPARATION of UMBILICAL CORD will probably have a mutation in which transmembrane protein? What do you call the disease?
Integrins. Leukocyte Adhesion Deficiency aka Lazy Leukocyte Disease
An SLE patient with a severe infection was investigated for abnormalities. On complement protein assay, which complement protein is probably deficient?
C2 deficiency, MOST COMMON COMPLEMENT DEFECT, usually asymptomatic but may develop septicemia or SLE
Vaccination to which organisms will confer the most useful protection among C5-C9 deficient patients?
Neisseria species
