MannanBinding Lectin: What do we Know Implications for Nurses and Patients with PID

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Mannan-Binding Lectin What do we Know?
Implications for Nurses and Patients with PID

• Gretchen Vaughn, RN, MSN, CPNP, CPON
• Cincinnati Childrens Hospital Medical Center

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Mannan-Binding Lectin (MBL)

• Definition a plasma protein of hepatic origin,
  part of the innate immune system which binds to
  micro-organisms leading to the activation of the
  complement system
• Targets microbial pathogens for destruction via
  opsonization, enhancement of phagocytosis and
  complement activation.

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MBL facts

• MBL deficiency noted from 3 relatively common
  single point mutations in exon 1 of the gene
  resulting in predisposition to infection and
  autoimmune disease
• MBL plasma concentrations range from 5-10,000
  ng/ml 30 of the population have levels lt500
  ng/ml (low)

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Innate Immunity

• Natural, non-specific mechanisms for protection
  against foreign antigens.
• Present at birth, no previous exposure to
  antigens needed

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Complement Cascade

• Activation of approximately 20 protolytic enzymes
  and regulatory proteins in plasma and body
  fluids.
• Complement proteins are effector molecules which
  modulate the inflammatory response
• Complement activation - classic
  pathway,alternative pathway, lectin pathway

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MBL Previous Patient Studies

• Chemotherapy/Stem Cell Transplant
• Premature Infants
• Intensive Care Units/Sepsis
• Autoimmune Diseases
• Cystic Fibrosis

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CCHMC Patient Experience - 1

• 7 year-old female, presented with oral ulcers
  history of asthma, joint stiffness, abdominal
  discomfort
• Immune studies
• Treatment

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CCHMC Patient Experience - 2

• 17 year-old male, presented with frequent
  sinus/pulmonary infections, headaches, fatigue
  diagnosed CVID
• Immune studies
• Treatment

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CCHMC Patient Experience - 3

• 2 ½ year-old male, presented with recurrent sinus
  infections
• Immune studies
• Treatment

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CCHMC Patient Experience - 4

• 18 year-old female who presented for a 2nd
  opinion with low NK function and low IgG4.
  Clinical symptoms were fatigue, myalgia, frequent
  infections
• Immune studies
• Treatment

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CCHMC Patient Experience - 5

• 11 year-old male who presented with vomiting,
  frequent infections, EBV
• Immune studies
• Treatment

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CCHMC Patient Experience - 6

• 15 year-old male who presented for 2nd opinion,
  history of x-linked lymphoproliferative
  disorder/low IgG
• Immune studies
• Treatment

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CCHMC Patient/Family Experience

• Family with triplet boys, index patient presented
  with sinusitis, recurrent infections
• Siblings (non-triplet sister, triplet pair) and
  parents were tested for MBL levels
• Father, all siblings were MBL deficient, Mother
  with normal level of MBL

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Triplet Index Patient

• Presenting symptoms were recurrent upper
  respiratory infections, asthma, low IgG,
  lymphadenopathy diagnosed CVID
• Immune Studies
• Treatment

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MBL Replacement

• Patient Groups
• Efficacy

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Mannan Binding Lectin

• Questions?