Immunodeficiency and Bone Marrow Failure

The bone marrow is responsible for the production of all blood cells. When the bone marrow fails or becomes inefficient in creating white blood cells, red blood cells, and platelets that may mature in the peripheral circulation, various clinical disorders such as anemia, platelet abnormalities, and immune system failure can ensue. The damaged individual blood cell lines (white blood cells, red blood cells, and platelets) determine the clinical syndromes and symptoms.

Bone Marrow Failure and its Diagnosis

A bone marrow failure diagnosis includes evidence of low blood counts, and bone marrow aspirations and biopsies are performed to evaluate the number of cells present and the activity of the bone marrow. Low blood counts, laboratory investigations of particular immune function indicators, and genetic studies are also used to diagnose primary immunodeficiencies.

Aplastic Anemia

Aplastic anemia is a failure in two or more cell lines; it can be acquired, hereditary, or congenital; its severity can also vary. Exposure to radiation, medicines, other chemicals, viruses, immunological illnesses, and other diseases (such as preleukemia) are the most common causes of acquired aplastic anemia. Fanconi's anemia, Familial aplastic anemias, Schwachman-Diamond syndrome, and other nonhematologic syndromes (e.g., Down syndrome) are all genetic disorders linked with aplastic anemia. Aplastic anemia affects roughly two people per million each year, with hereditary disorders accounting for about 25% of cases.

Primary Immunodeficiency

Clinical signs like bone marrow failure may ensue when blood cell production is adequate, but blood cell function is compromised. When this happens with T- and B-cells (white blood cells), the kid is diagnosed with primary immunodeficiency (for example, SCID-Severe Combined Immunodeficiency). Immunodeficiencies can be inherited (X-linked or autosomal recessive mutations) or acquired due to cancer, infection, or immunosuppression. Bone marrow failure is a condition that affects blood cell production.

When cells are produced but fail to function (e.g., chronic anemia), are destroyed once produced (e.g., some forms of thrombocytopenia), do not function properly due to genetic mutations (e.g., hemophilia), or are crowded out by overproduction of nonfunctional, abnormal blood cells (e.g., acute leukemia), similar clinical features may be observed. Primary immunodeficiencies (e.g., scm, Wiscott-Aldridge Syndrome, AtaxiaTelangiectasia) occur in 1 in 100,000 people.

Clinical Features of Bone Marrow Failure

The blood cell lineages involved determine the clinical signs of bone marrow failure. Platelet production failure causes bruising, bleeding, or petechiae (tiny red patches on the skin). Anaemia (lack of functioning red blood cells) can cause weariness, a pale look, and a fast heartbeat (tachycardia). Failure of white blood cells (leukocytes) might manifest as bacterial infection, mouth ulcers, and fever. Recurrent infections, persistent diarrhea, and failure to grow are common clinical signs of primary immunodeficiency, and they can develop into malignancies such as leukemia or lymphoma.

Children with bone marrow failure or primary immunodeficiency have diverse prognoses with varying severity. Supportive treatment of symptoms (e.g., antibiotics, transfusion) resulted in an overall survival rate of only around 30% at four years postdiagnosis for severe aplastic anemia. At the same time, the survival percentage for people having BMT is 65%. Similarly, severe primary immunodeficiency is frequently deadly in the absence of BMT.


Both bone marrow failure and primary immunodeficiency may require extensive antibiotic treatment of infections, immunosuppressant drugs in some situations, and blood transfusion assistance. Allogeneic (from a donor) bone marrow transplantation (BMT) is the best therapy choice for many youngsters. Blood transfusions should be used as little as possible. Repeated exposure to blood products increases the likelihood that the immune system may create antibodies that eventually reject donor blood products such as bone marrow, peripheral stem cells, and umbilical cord blood cells. Conversely, transfusions should be considered in life-threatening emergencies (e.g., severe anemia, uncontrolled bleeding).

A child with bone marrow failure or primary immunodeficiency may necessitate isolation (SCID is commonly called the "bubble boy syndrome"), causing a substantial disturbance in his or her lifestyle. Psychosocial support in stress management, social growth, educational involvement, and pain control can be beneficial. Stress inoculation prior to BMT and assistance during and after BMT are critical components of treatment for these children.

Bone Marrow Transplantation

Since 1968, bone marrow transplantation (BMT) has been used to treat children and adults with cancer and other bone marrow diseases. Bone marrow is a soft and spongy substance found in the bones that houses more than 95 percent of the body's blood cells. Stem cells generate different blood cells found in bone marrow in the breast, brain, hips, ribs, and spine. BMT has traditionally included surgically harvesting bone marrow (by needle put into the hip bones and sternum), sifting it, and infusing it into the patient.

A bone marrow transplant is performed when stem cells are extracted straight from the bone marrow. In rare cases, stem cells can be collected from the circulation through a procedure known as apheresis. Apheresis is a procedure that includes attaching the patient to a machine that takes blood from one arm, separates the stem cells, and returns the remaining blood cells to the other arm. The operation is known as a stem cell transplant when stem cells are obtained in this manner.

Bone marrow or stem cell transplantation is required for some people with leukemias, lymphomas, aplastic anemia, immune deficiency syndromes, and other solid tumor malignancies. Some individuals' illnesses erode the body's bone marrow, eventually leading to death. Other individuals' illnesses can only be treated with exceptionally high doses of chemotherapy and radiation therapy. While high-dose chemotherapy kills cancer cells, it also kills healthy stem cells. In order to repair the stem cells that have been lost by sickness or therapy, bone marrow or stem cell transplantation is required.

There are three forms of bone marrow transplantation available. An autologous transplant includes removing the patient's bone marrow or blood cells before high-dose treatment, freezing it, and returning it to the patient after treatment. An allogeneic transplant involves using bone marrow or blood cells from someone genetically similar to the patient. This individual is often a sibling, but it might also be a parent, another relative, or an unrelated donor through a national or international bone marrow registry.

Finally, it is conceivable for a patient to get stem cells extracted from an umbilical cord. Following the birth of their child, parents are increasingly donating their umbilical cords. The cord is a rich source of stem cells, which may be preserved until needed for transplantation.


Bone marrow failure is a condition that affects blood cell production, with clinical features determined by the blood cell lineages involved. Aplastic anemia is acquired, hereditary, or congenital, and primary immunodeficiencies can be inherited or acquired. Bone marrow failure and primary immunodeficiency can cause bruising, bleeding, anemia, white blood cell failure, recurrent infections, diarrhea, and failure to grow.

Treatment includes antibiotics, immunosuppressant drugs, and bone marrow transplantation (BMT). Psychosocial support is critical. Bone marrow or stem cell transplantation is required to repair stem cells lost by sickness and therapy, with three forms available. Bone marrow or stem cell transplants are performed following high-dose chemotherapy or radiation therapy and are administered by a central venous catheter.

Updated on: 09-May-2023


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