questions 5

Wiskott-Aldrich Syndrome

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Topic updated on 04/06/17 4:29pm

Snapshot
  • An 8-year-old boy is brought to his pediatrician for easy bruising. On physical exam, he is found with petechiae and purpura in multiple areas over his body, as well as bruises over his arms. Eczematous patches are also found on his flexural surfaces. Laboratory results reveal thrombocytopenia to 30,000/mm3. Further questioning reveals a past medical history of multiple hospital stays due to pneumonia and otitis media infections as well as recurrent epistaxis.
Introduction
  • Primary immunodeficiency disorder of B and T cells
  • Pathogenesis
    • mutation in WAS gene encoding Wiskott-Aldrich syndrome protein (WASp)
      • impaired actin cytoskeleton
      • results in defective T cell signalling and interactions with APCs
      • also impairs phagocytosis and chemotaxis
    • loss of cellular and humoral response
  • Genetics
    • X-linked recessive
  • To remember (WATER)
    • Wiskott
    • Aldrich
    • Thrombocytopenic purpura
    • Eczema
    • Recurrent infections
Presentation
  • Symptoms/physical exam
    • recurrent bacterial, viral, fungal infections
      • frequency increases with age
      • bacterial agents: Streptococcus pneumonia, Haemophilus influenza, Neisseria meningitides
      • viral agents: varicella and CMV
      • fungal infections: Candida albicans
    • thrombocytopenia
      • recurrent bleeding, especially in first days of life
        • petechiae
        • purpura
        • easy bruising
        • hematemesis
        • epistaxis
        • hematuria
    • chronic eczema
    • hepatosplenomegaly common
Evaluation
  • Serologies
    • ↓ number of T and B cells
    • ↓ to normal IgG, IgM
    • ↑ IgE, IgA
  • Labs
    • thrombocytopenia
      • usually 20,000/mm3 - 50,000/mm3
  • Gene sequence analysis of WAS essential to confirm diagnosis
Differential Diagnosis
  • Severe combined immunodeficiency
  • Hyper IgE syndrome (also with eczema)
  • Atopic dermatitis
Treatment
  • Antibiotics
  • IVIG
  • Hematopoietic stem cell transplantation
    • only curative treatment
Prognosis, Prevention, and Complications
  • Prognosis
    • reduced life expectancy (see complications below)
    • bleeding is main cause of death
  • Complications
    • increased risk of
      • autoimmune diseases
      • malignancies (lymphomas, leukemias), usually fatal
      • infections
    • complications may lead to early death
    • chronic eczema
      • superinfection


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Qbank (4 Questions)

TAG
(M1.IM.43) A 7-year-old boy presents to your office with facial eczema. He has a history of multiple, recurrent infections, including multiple episodes of pneumonia that lasted several weeks and otitis media. Laboratory measurements of serum immunoglobulins showed increased IgE and IgA but decreased IgM. Which of the following additional abonormalities would you expect to observe in this patient? Topic Review Topic

1. Thrombocytopenia
2. Leukopenia
3. Anemia
4. Pancreatic insufficiency
5. NADPH oxidase deficiency

PREFERRED RESPONSE ▶
TAG
(M1.IM.63) A 3-year-old boy is brought to the family physician by his parents. They are concerned that he has had multiple nosebleeds in the last 6 months and is always sick compared to other children. During this time period they have also noticed the formation of multiple bruises on his extremities and dry-itching skin on his hands, feet and elbow. On physical exam the physician notes moderate splenomegaly. What is the most likely diagnosis in this child? Topic Review Topic

1. X-linked Agammaglobulinemia
2. Severe Combined Immunodefiency
3. Wiskott-Aldrich Syndrome
4. Primary Eczema
5. Hyperimmunoglobulin E syndrome

PREFERRED RESPONSE ▶
TAG
(M1.IM.74) A 2-month-old boy is brought to his pediatrician for a routine visit. His mother is concerned because he developed a rash one month ago that has not resolved (Figure A). Furthermore, she states that he has seemed to constantly be sick ever since his birth. On physical exam, the pediatrician notes the findings demonstrated in Figure B. The pediatrician pursues further workup and orders a number of lab tests. Which of the following laboratory findings is most likely to be observed in this patient? Topic Review Topic
FIGURES: A   B        

1. Increased IgM; Decreased IgG, IgA, IgE
2. Increased IgE only
3. Increased IgE, IgA; Decreased IgM
4. Increased IgE; Decreased IgG, IgM
5. Decreased IgE, IgM, IgA, IgG

PREFERRED RESPONSE ▶
TAG
(M1.IM.4707) A 2-year-old boy is brought to his pediatrician for evaluation of high fever and malaise. His mother relates that he suffers from frequent infections and has had several episodes of bloody diarrhea in the last year. Physical exam reveals diffuse petechial lesions as well as dry red skin in the elbow and other extremity flexor compartments. His mom remembers that one of her nephews has a similar problem with bleeding and very itchy rashes but cannot recall the details. Which of the following patterns of immunoglobulin findings is most likely to be found in this patient (see Figure A)? Topic Review Topic
FIGURES: A          

1. A
2. B
3. C
4. D
5. E

PREFERRED RESPONSE ▶
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