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Old 10-19-2012
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Arrow Gyrus Daily Questions; Pediatrics #49

A 14-month-old male infant presents to the emergencyroom with a chief complaint of high grade fever with no response to antipyretic therapy This illness started suddenly with the abrupt onset of fever early yesterday morning. He then developed a severe cough and increase work of breathing.The mother reports that he is frequently ill.He was hospitalized 2 months ago for pneumococcal pneumonia. On examination: PR: -145/min, RR: 55/min; BP:100/60mm Hg; oxygen saturation 91%; weight:7Kg (15.4 lb). He is listless, tired, and small for age.Both ear canals contain purulent drainage.An immunologic work -up is done and found to have markedly elevated IgM undetectable igG and igA with diminished total B lymphocytes and neutrophils Which of the
following is the most likely diagnosis?

A Bruton's agammaglobulinemia (XLA)
B.3. Common variable immunodeficiency
C. Transient hypogammaglobulinemia of infancy
D. Hyper-IgM syndrome
E. Selective igA deficiency
F. Selective igG subclass deficiencies
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Old 10-20-2012
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D. Hyper-IgM syndrome
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D. Hyper-IgM syndrome
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D.......hyper IgM syndrome
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D, HyperIgM syndrome. shitload of piogenic infections
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Infections with Pneumocystis pneumonia are common in infants with Hyper IgM syndrome.

Quote:
IgM is the form of antibody that all B cells produce initially, before they undergo class switching due to exposure to a recognized antigen. Healthy B cells efficiently switch to other types of antibodies as needed to attack invading bacteria, viruses, and other pathogens. Generally, in people with hyper IgM syndromes, the B cells keep making IgM antibodies because they can't switch to a different kind of antibody. This results in an overproduction of IgM antibodies and an underproduction of all other types, IgA, IgG, and IgE. Individuals with hyper-IgM syndrome typically also have a low number of neutrophils and platelets.
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Bruton's congenital agammaglobulinemia can be confused with tran-
sient hypogam maglobulinemia of infancy (THI)
, as both are character-
ized by increased susceptibility to infections at an early age, when trans-
placental maternal IgG is no longer active. B cells are decreased in Bruton's,
whereas those in THI are normal.
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Old 10-21-2012
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D. Hyper-IgM syndrome
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