Question

CASE STUDY OF LEUKOCYTE ADHESION DEFICIENCY
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Danica approached her mother and asked her if she could cook some food for her. Danica's mother, Diana, saw that her daughter was having a nosebleed, she was busy wiping down Danica's bleeding nose. “Tilt back your head, baby.” Diana advised her three-year old daughter. This was her 5th nosebleed this week; and she was having doubts whether all the blood was just coming from her daughter’s nose. Danica's gums seem to be bleeding too. The wound Danica
acquired during a stumble seemed to be developing a bad smell despite all the efforts of
antibacterial ointment and dressings. Diana wanted to start packing up stuff and rush to a
hospital, but all that she could do was try to stop her daughter from bleeding to death. “This is very serious, Mrs. Lee. Her wound is infected and she seems to have another
respiratory infection. At least we were able to stop the bleeding. We need to do more tests
to fully diagnose your daughter’s condition.” The doctor said somberly. Diana looked at her
husband, Nigel. This was one of their many visits to the hospital since Danica was born. They
were released from the hospital about one month after Danica's birth, since the baby acquired
a respiratory infection and had complications with the detachment of her umbilical cord. Since then, they were regulars in the hospital for Danica's bleeding episodes. What if Danica
had what her younger brother and Nigel’s eldest sister had? Their siblings also had bleeding
episodes and died due to complications of respiratory and wound infections when they were
children. “Mr. And Mrs. Lee, do you by any chance have any family history of Middle-Eastern
Descent?” Dr. Khaleb, the pediatric geneticist asked Diana and Nigel. “We both are half
Lebanese, doctor.
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Question 1: does leukocyte adhesion deficiency have something to do with race ? ethnicity ? explain your answer and cite with sources/references.
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Question 2: are the symptoms of Danica, Leukocyte adhesion deficiency type 1 or Leukocyte adhesion deficiency type 3? explain your answer.
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Question 3: Will Danica survive ?
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please identify if the symptoms are leukocyte adhesion deificiency type 1 or leukocyte adhesion deficiency type 3 ? thank you so much for your answer..
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. to the person who will answer this, thank you so much !!!!! you are such an angel for answering my questions . thank you!

Answer 1

1)

LAD syndromes affect males and females in equal numbers. The exact incidence of these disorders in the general population is unknown. LAD I is by far the more common one with several hundreds of patients reported in the medical literature from all over the world. LAD II is very rare reported in less than 10 patients and LAD III is also rare with 25 patients mainly from the Middle East region. These disorders often go unrecognized and may be misdiagnosed, making it difficult to determine their true frequency in the general population. LAD I was first described in the medical literature in 1979. LAD II was first reported in 1992. LAD III was first reported in 1997.

References

TEXTBOOKS
Etzioni A, Alon R. Cell Adhesion and Leukocyte Adhesion Defects, In: Ochs HD, Smith E, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.3rd Ed. New York, NY: Oxford University Press; 2014;723-741.

Lichtman MA, Beutler E, Kipps TJ, Selisohn U, et al. Eds. Williams Hematology. 7th ed. New York, NY: McGraw-Hill Companies; 2006:935-938.

2)

LEUKOCYTE ADHESION DEFICIENCY TYPE III
Individuals with LAD III have recurrent bacterial and fungal infections that follow a similar course of infection as seen in individuals with LAD I. However, these affected individuals also have a bleeding tendency that can cause life-threatening complications. The bleeding complication of LAD III resembles a rare disorder known as Glanzmann thrombasthenia, which is characterized by impaired function of blood cells required for clotting (platelets). Affected individuals have a tendency to bleed easily and profusely especially after surgical procedures. Other symptoms may include susceptibility to easy bruising, nosebleeds (epistaxis), bleeding from the gums (gingival), and/or large red or purple colored spots on the skin that are caused by bleeding under the skin (subcutaneous). The bleeding problem usually starts at birth.

Individuals who were once classified as having LAD I variant (because of the similar disease expression) are now considered to have LAD III because the underlying genetic cause of LAD III is different from the underlying genetic cause of LAD I.

3)Yes she can survive,

The only curative therapy for individuals with LAD syndromes is a bone marrow transplant. A bone marrow transplant may also be known as a stem cell transplant. Hematopoietic stem cells are special cells found in bone marrow that manufacture different types of blood cells (e.g., red blood cells, white blood cells, platelets). In allogeneic stem cell transplantation, stem cells are donated from another person, usually from a closely matched family member. Stem cell transplants have the potential to correct the inherent, genetic defect of the white blood cells of individuals with LAD syndromes. However, because stem cell transplants can cause severe, even life-threatening complications, they are usually reserved for individuals with severe complications or individuals who have no other viable treatment options. The initial results of bone marrow transplants for individuals with the severe form of LAD I have been very encouraging. In a recent publication from several main centers in the world the overall survival of individuals who have had a bone marrow transplant for LAD I is almost 75%.

Researchers are studying gene therapy as a potential treatment for individuals with LAD syndromes. Gene therapy is an experimental therapy that involves replacing mutated genes with healthy copies, inactivating mutated genes, or introducing a new gene into the body that helps the body fight disease. Researchers are studying the use of implanting healthy copies of the ITGB2 gene into the hematopoietic (bone marrow) stem cells of individuals with LAD I, which could potentially cure the disorder. Gene therapy is still a very experimental therapy and more research is necessary to determine its viability, effectiveness and safety to treat genetic disorders such as LAD I. While in a canine model of LAD I encouraging results were seen after gene therapy, it seems that in human we still have to go a long way before seeing such result.

The symptoms are related to type 3 LAD.

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