Thomas Harrison, born at 39 weeks after an uneventful pregnancy, developed normally and thrived for the first 8 months of infancy. During the next 12 months he received antibiotics for a number of infections including two episodes of acute otitis media (middle ear infection), sinusitis, and superficial cellulitis (streptococcal skin infection) on his left thigh. Two days ago, after an upper respiratory infection, Thomas devel oped a fever, became drowsy, and experienced a seizure. Lumbar puncture confirmed Haemophilus influenzae type B (HiB) in the cerebrospinal fluid. Intravenous ceftriaxone was administered and his condition stabilized after 24 hours. Laboratory results showed his total lymphocyte count to be normal; however, flow cytometry using antibodies for the B-cell marker CD19 revealed an absence of B cells. Antibodies against CD3, CD8, and CD4 revealed the presence of cytotoxic and helper T cells. Serum IgG and IgM levels were remarkably low at 75 mg/dl and 10 mg/dl, respectively (IgG normally 600–1500 mg/dl; IgM 75–150 mg/dl), and IgA was undetectable. Family history showed that neither of Thomas’s two older sisters (ages 4 and 7) had experienced recurrent infections like this in infancy. Thomas’s maternal aunt had a boy of about the same age as Thomas who had also been experiencing repeated episodes of otitis media, sinusitis, and, most recently, a severe case of pneumonia, all caused by pyogenic bacteria and treated successfully with antibiotics. Thomas began intravenous IgG replacement therapy administered at 3–4-week intervals, and his repeated episodes of infection abated. These findings are most consistent with a diagnosis of a. hyper-IgM syndrome b. X-linked agammaglobulinemia (XLA) c. chronic granulomatous disease (CGD) d. DiGeorge syndrome e. MHC class I deficiency.

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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Thomas Harrison, born at 39 weeks after an uneventful pregnancy, developed normally and thrived for the first 8 months of infancy. During the next 12 months he received antibiotics for a number of infections including two episodes of acute otitis media (middle ear infection), sinusitis, and superficial cellulitis (streptococcal skin infection) on his left thigh. Two days ago, after an upper respiratory infection, Thomas devel oped a fever, became drowsy, and experienced a seizure. Lumbar puncture confirmed Haemophilus influenzae type B (HiB) in the cerebrospinal fluid. Intravenous ceftriaxone was administered and his condition stabilized after 24 hours. Laboratory results showed his total lymphocyte count to be normal; however, flow cytometry using antibodies for the B-cell marker CD19 revealed an absence of B cells. Antibodies against CD3, CD8, and CD4 revealed the presence of cytotoxic and helper T cells. Serum IgG and IgM levels were remarkably low at 75 mg/dl and 10 mg/dl, respectively (IgG normally 600–1500 mg/dl; IgM 75–150 mg/dl), and IgA was undetectable. Family history showed that neither of Thomas’s two older sisters (ages 4 and 7) had experienced recurrent infections like this in infancy. Thomas’s maternal aunt had a boy of about the same age as Thomas who had also been experiencing repeated episodes of otitis media, sinusitis, and, most recently, a severe case of pneumonia, all caused by pyogenic bacteria and treated successfully with antibiotics. Thomas began intravenous IgG replacement therapy administered at 3–4-week intervals, and his repeated episodes of infection abated. These findings are most consistent with a diagnosis of

a. hyper-IgM syndrome

b. X-linked agammaglobulinemia (XLA)

c. chronic granulomatous disease (CGD)

d. DiGeorge syndrome

e. MHC class I deficiency.

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