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
QUESTIONS 1 of 4 1 2 3 4 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.IM.15.74) 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? Tested Concept QID: 106681 FIGURES: A B C D E Type & Select Correct Answer 1 Figure A 8% (15/192) 2 Figure B 13% (25/192) 3 Figure C 13% (25/192) 4 Figure D 55% (105/192) 5 Figure E 8% (15/192) M 2 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review tested concept Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK