Updated: 6/9/2018

Leukocyte Adhesion Deficiency Type I

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Snapshot
  • A 4-day-old girl born to a G1P1 mother with no complications presents with a fever. There is some swelling with serosanguinous fluids around her rectum. Cultures from the fluid grow Staphylococcus spp and is treated with antibiotics. On day 15 of life, she develops an ear infection and is once again treated with antibiotics. The umbilical cord is still attached, and on day 34 of life, the umbilical stump is noted to be erythematous, indurated, and tense. A completel blood cell count is significant for leukocytosis. Immunoglobulin levels are normal. Flow cytometry reveals decreased expression of CD18 to < 1%.
Introduction

  • Primary immunodeficiency resulting from phagocytic dysfunction
  • Genetics
    • autosomal recessive
    • absence or defective CD18
  • Epidemiology
    • very rare
    • primarily seen in pediatric population
  • Pathogenesis
    • defect in LFA-1 integrin (CD18) protein on leukocytes  
    • normal physiology
      • CD11a/CD18 (LFA-1 integrin) expressed on lymphocytes are important in the
        • trafficking and adhesion to vascular endothelium 
        • interactions with antigen presenting cells
        • cytotoxic T-cell killing
    • results in impaired migration and chemotaxis
  • Prognosis
    • 75% of individuals have severe disease, with typically < 1% expression of CD18
      • may succumb to life-threatening infection within 1-2 years of life
    • mild disease, with 1-30% expression of CD18
      • survive to adulthood
Presentation
  • Symptoms
    • delayed separation of umbilical cord at birth to > 30 days 
    • omphalitis
    • recurrent infections of skin and mucosa
      • most commonly due to Staphylococcus spp., enteric gram-negative bacteria, and fungi
      • perirectal and labial cellulitis
      • otitis media
    • absent pus formation
      • serosanguineous fluids may be present
    • impaired wound healing
      • poorly formed, thin, bluish scars
    • gingivostomatitis
Evaluation
  • ↑ Neutrophils in the absence of infection
    • dramatically ↑ with infection
  • Histology
    • localized infection with absence of neutrophils or pus
    • edema and necrosis
  • Flow cytometry
    • absence of CD18 on leukocytes
Differential Diagnosis
  • Chédiak-Higashi syndrome
  • Chronic granulomatous disease
Treatment
  • Hematopoietic stem cell transplant
    • high success rate
  • Prophylactic antibiotics
Complications
  • Life-threatening infections
  • Graft versus host disease after stem cell transplant
 

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Questions (4)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
Calculator

(M1.IM.74) A 5-month-old is brought to the pediatrician by her mother because of concerns about her health. The mother states that since birth she has had recurrent bacterial infections despite every effort to maintain adequate hygiene to prevent infection. Upon questioning, the mother notes that while the child had an uncomplicated birth, she did have an abnormally delayed separation of her umbilical cord. The pediatrician decides to pursue further workup. Which of the following images is most likely to be observed during the course of this workup? Review Topic

QID: 106681
FIGURES:
1

Figure A

9%

(12/141)

2

Figure B

15%

(21/141)

3

Figure C

13%

(18/141)

4

Figure D

54%

(76/141)

5

Figure E

7%

(10/141)

M1

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