Immunodeficiencies Flashcards
an 8 month old male infant present with recurrent bacterial infections. You notice that this patient has small lymphnodes and absent tonsils.
x-linked agammaglobulinema
aka Bruton’s agammaglobulinemia
there is a defective gene on the x-chromosome preventing maturation of B Cells
Pt will have No IgA, IgM, or IgE in labs
A patient presents with recurrent mucosal infections (Sinopulmonary or GI).
Severe IgA deficiency
This patient can also suffer from autoimmune and endocrine disorders
The pts serum IgA wil be <10mg/dL. These patients are at risk for anaphylaxis after a blood transfusion due to IgA in the transfused blood
what are other cardiac defects associated with a deletion in 22q11?
what other symptoms are associated with DiGeorge syndrome?
tetralogy of Fallot, VSD,
interrupted aortic arch
The pt can also have psych and behavior problems, cognitive defects, and growth retardation
CATCH22- cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia (presents with tetany)
What are the symptoms of Chronic Granulomatous Disease
abscess formation on skin and organs
hepatosplenomegaly, lymphadenopathy, chronic draining lymphnodes, and chronic infected ulcerations and granuloma formation
What lab values do we expect to see with Wiskott-Aldrich syndrome?
These patients have a higher incidence of what?
Increased IgA and IgE
decreased IgM and smaller platelets
Increased risk of autoimmune disease andd malignancy
“WATER” Wiskott-Alkrich, thrombocytopenia, ezcema, recurrent pyogenic infections
a 2 year old comes in with abscesses on the skin and a tender RUQ.
Chronic Granulomatous Disease
x-linked, defect in production of NADPH oxidase enzymes in phagocytic cells. This leads to a decreased respiratory burst and ROS and increased intracellular killing of microbes
The patient is susceptible to opportunistic infections by catalase + organisms and will have severe consequences like abscess formation affecting the skin and organs
SCIDs
what types of infections is this infant especially susceptible to?
What does our lab work look like?
treatment:
SCIDS babies are especially susceptible to:
thrush (candida albicans)
pneumonia (P. jroveci)
diarrhea caused by rotavirus or bacteria
and infections due to live vaccines (these are contraindicated in these patients)
Labs will have decreased or absent T cell, but normal B cell levels even tho they don’t work normally and severely decreased antibody production
Cure SCID with bone marrow transplant
gene therapy is currently being researched
a patient presents comes into your office. You notice that he has a cleft palate and a very long face. He has a diagnosed VSD
what else are you likely to find?
DiGeorge Syndrome
22q11 deletion
congenital defect in the organs that develop from the 3rd and 4th pharyngeal pouches (thymus and parathyroid glands)
Hypocalcemia (due to decreased PTH) this can lead to tetany
Absent thymic shadow on x ray
A patient comes in with recurrent meningitis infections
Complement Component Deficiencies
Patients with a defect in MAC (complement 5-9) are especially susceptible to Neiseria Meningitis and gonarrhea.
These patients also have a high incidence of autoimmune disease (SLE) and recurrent bacterial infections due to deficient complement opsonization and complement assisted antibody production (C3 is deficient so MAC is never formed)
A child is brought to the emergency room with severe swelling around her eyes that was unresponsive to epinephrine
Hereditary Angioedema
deficiency in complement control protein (C1 inhibitor) that regulated complement activation and production of inflammatory kinins. this leads to easy activation of complement and excess bradykinin production leading to vasodilation and edema
treatment: C1 inhibitor product concentrate
A male infant comes in with chronic diarrhea, and recurrent serious infections and failure to thrive
what is this?
SCIDS- Severe combined immunodeficiency diseases
the most common form is x-linked. A gene that encoding the gamma chain for several cytokine receptors (IL-2, 4, 7, 15, 21) and deficiencies in adenosine deaminase or purine nucleoside phosphorylase
this leads to an accumulation of dATP and dGTP both of which are toxic to lymphocytes
A dad brings his 5 month old daughterto see you because of severe coughing. When you look in the infant’s mouth you notice some super swollen gums for a 5 month old
Severe Congenital Neutropenia
a genetic defect causing decreased neutrophils (<1500/microL)
the severity varies based on the genetic defect.
patients will present with oropharyngeal problems (gingivitis, ulcers) otitis media, respiratory infections, cellulitis/skin infections d/t staph and strep.
Complications include malignancy and osteopenia
Usually fatal by 1 yr.
Treatment with G-CSF
Patients diagnosed with CVID have an increased incidence of
Autoimmune disease
leukemia
lymphoma
CVID usually presents in the 2nd or 3rd decade with recurrent otitis media or sinopulmonary infections, persistent diarrhea. The patient will have a Hx of poor response to immunization.
Labs will have low levels of IgG and IgA
A 25 yo comes to your office complaining of recurrent ear infections and persistent diarrhea.
Common Variable Immunodeficiency (CVID)
Slow decline in total serum immunogloulin b/c of a defect in B-cell development
onset is at any age but usually in the 2nd or 3rd decade. The patient will have a history of poor response to immunization
