eMedicine Specialties > Pediatrics: General Medicine > Allergy & Immunology

Leukocyte Adhesion Deficiency: Follow-up

Author: Stephen J Nervi, MD, Staff Physician, Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Jersey School of Medicine
Coauthor(s): Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School; Monika I Sidor, MD, Staff Physician, Department of Surgery, University of Michigan at Ann Arbor
Contributor Information and Disclosures

Updated: Sep 9, 2009

Follow-up

Further Inpatient Care

  • Leukocyte adhesion deficiency type I (LAD I) is often associated with life-threatening infections requiring intensive care. Coordinating medical management between immunologists, infectious disease specialists, pulmonologists, and surgical specialists is challenging.
  • Excellent laboratory and radiology support mandates hospitalization in tertiary children's medical centers.

Further Outpatient Care

  • Scrupulous follow-up of infections is necessary for patients with leukocyte adhesion deficiency.
  • As noted above, outpatient management of infections has become customary despite the complexity of care and the stress to families.

Inpatient & Outpatient Medications

  • Patients with leukocyte adhesion deficiency I are at risk for fungal infections with Candida species because of their frequent need for broad-spectrum antibiotics.

Transfer

  • Most clinical immunologists strongly believe that the great complexity of medical problems for any primary immunodeficiency disease requires the patient to be managed by an immunologist.
  • The subtle signs of infection, the need to offer stem cell transplantation, and the early deaths in patients with leukocyte adhesion deficiency I that is not properly treated suggest that frequent monitoring by a clinical immunologist is essential.
  • The major services for transfer are the intensive care and surgical teams.

Deterrence/Prevention

  • Prenatal diagnosis for leukocyte adhesion deficiency I is possible by chorionic villus sampling or amniocentesis using DNA methodology in families where the exact mutations have been established. Fetal blood sampling and fluorocytometric testing for the presence of CD18 on lymphocytes, monocytes, and neutrophils can establish the diagnosis when DNA analysis is not available.
  • In leukocyte adhesion deficiency II, ultrasonography for growth retardation, skeletal abnormalities, and distinctive facial features can establish the diagnosis prenatally in some families.

Complications

  • Patients with leukocyte adhesion deficiency I are at risk for graft versus host disease post–stem cell reconstitution, although graft versus host disease has been less common than in other transplantation settings.
  • Patients with leukocyte adhesion deficiency II experience growth failure and mental retardation, although they are less likely to die of infection. Reports of these patients are so rare that other complications may not be observed adequately yet.

Prognosis

  • Without hematopoietic stem cell transplantation (HSCT), patients with leukocyte adhesion deficiency I who have an absence of CD18 expression usually die from infection within 2 years of life. The published experience with hematopoietic stem cell transplantation has been excellent with complete immunologic reconstitution. Earlier reviews of leukocyte adhesion deficiency I indicated that unreconstituted patients most often succumbed to bacterial infections. In the author's experience, early recognition and aggressive therapy of bacterial and fungal infections is usually successful. In contrast, no specific therapy is available for the crouplike infections of suspected viral etiology or for aseptic meningitis.
  • Patients with leukocyte adhesion deficiency II show severe developmental delay, which has not been significantly prevented even when fucose replacement seemed to decrease infections and improve phagocytic functions.

Patient Education

  • The inability to easily detect infection is extremely stressful to families. Aggressive and complicated antibiotic and surgical care may be required for prolonged periods in the home setting, adding further stress.
  • Adequate informed consent for stem cell reconstitution must review the high risk for life-threatening infection during the preparative myeloablative regimen in addition to the risk for failure to engraft and graft versus host disease. Although successful complete immune reconstitution from bone marrow transplantation is reported using fully matched related and unrelated donors or haploidentical donors (ie, parents), patients with leukocyte adhesion deficiency I cannot be guaranteed to have benign courses.
  • The Immune Deficiency Foundation (some states have local chapters) is an important resource for education and for support for patients and families with any primary immunodeficiency disease. The current address is as follows: 25 W. Chesapeake Ave, Suite 206
    Towson, MD 21204
    Phone number: 877-666-0866
    Web site: www.primaryimmune.org
  • The Jeffrey Modell Foundation also provides educational support and raises funds for research. The current address is as follows: 747 3rd Ave
    New York, NY 10017
    Phone: 800-JEFF-844
    Web site: www.jmfworld.org

Miscellaneous

Medicolegal Pitfalls

  • Leukocyte adhesion deficiency (LAD) diseases could potentially be misdiagnosed as severe infection with appropriate leukocytosis or a leukemoid reaction. Patients with severe leukocyte adhesion deficiency I may die from a single overwhelming infection.
  • The diagnosis must be made for other siblings, who have a 1:4 risk for leukocyte adhesion deficiency I. Prenatal diagnosis of leukocyte adhesion deficiency I can be readily established by DNA analysis or fluorocytometric tests for expression of CD18.
  • Ultrasonography for growth retardation, skeletal abnormalities, and facial features can make the diagnosis prenatally for siblings in leukocyte adhesion deficiency II.

Special Concerns

  • Animal and human bites present a high risk for local infection that is difficult to detect and heals slowly. Pasteurella species cause lethal infections in Holstein calves with the bovine leukocyte adhesion deficiency I (BLAD).
 


More on Leukocyte Adhesion Deficiency

Overview: Leukocyte Adhesion Deficiency
Differential Diagnoses & Workup: Leukocyte Adhesion Deficiency
Treatment & Medication: Leukocyte Adhesion Deficiency
Follow-up: Leukocyte Adhesion Deficiency
Multimedia: Leukocyte Adhesion Deficiency
References
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Further Reading

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Keywords

leukocyte adhesion deficiency, leukocyte adhesion deficiency type 1, LAD 1, LAD 2, LAD I, LAD II, leukocytosis, localized bacterial infections, CDG-IIc, neutropenia, leukocytosis, congenital disorders of glycosylation, dysfunctional lipid-linked oligosaccharide precursor synthesis, dysfunctional trimming/processing of the protein-bound oligosaccharide, aseptic meningitis, crouplike syndromes, severe mental retardation and developmental delay, neurologic impairment, short stature, periodontitis, colitis, oral ulcerations, hematopoietic stem cell transplantation, delayed umbilical cord separation, omphalitis, perirectal cellulitis, labial cellulitis, otitis media, Staphylococcus species, Candida albicans, bacterial typhlitis, treatment, diagnosis

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Contributor Information and Disclosures

Author

Stephen J Nervi, MD, Staff Physician, Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Jersey School of Medicine
Stephen J Nervi, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Sigma Xi
Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

Monika I Sidor, MD, Staff Physician, Department of Surgery, University of Michigan at Ann Arbor
Monika I Sidor, MD is a member of the following medical societies: Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

Terry Chin, MD, PhD, Associate Professor of Pediatrics, Pediatric Allergy/Immunology/Pulmonology, Department of Pediatrics, University of California Irvine School of Medicine; Associate Director, Miller Children's Hospital at Long Beach Memorial Medical Center
Terry Chin, MD, PhD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American College of Chest Physicians, American Thoracic Society, California Thoracic Society, Clinical Immunology Society, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David J Valacer, MD, Consulting Staff, Hoffman La Roche Pharmaceuticals
David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, and New York Academy of Sciences
Disclosure: Nothing to disclose.

CME Editor

David Pallares, MD, Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville
David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology
Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD, Associate Professor, Division of Pulmonary Allergy/Immunology and Infectious Diseases, Department of Pediatrics, UMDNJ-New Jersey Medical School
Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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