The JBF disease library
Understand the condition.
See where a donor fits.
A diagnosis brings unfamiliar words and important questions. Explore clear explanations of conditions, their treatments and the role of bone marrow and blood stem cell transplantation.
108 conditions · 3 broader diagnosis guides
Browse condition groups
Start with the name you were given.
Some diagnoses cover several subtypes. These guides explain how they fit together.
Leukemias
11Cancers of blood-forming cells. The affected cell type and the pace of disease shape treatment.
- In-depth guide
Acute myeloid leukemia
Acute myeloid leukemia (AML) is a fast-growing cancer of blood-forming cells. Treatment is tailored to the leukemia’s genetic features, response to therapy and the person’s health; some people benefit from a donor stem cell transplant.
Donor transplant option - In-depth guide
Acute promyelocytic leukemia with PML::RARA fusion
Acute promyelocytic leukemia (APL) is a distinct form of AML, usually driven by a PML::RARA gene fusion. It can cause dangerous bleeding, but prompt treatment with differentiation medicines allows many people to recover without a stem cell transplant.
Limited transplant role - In-depth guide
Adult T-cell leukemia/lymphoma
Adult T-cell leukemia/lymphoma (ATLL) is a cancer of mature T cells associated with long-standing HTLV-1 infection. Treatment differs by subtype; a donor transplant is an important potentially curative option for eligible people with aggressive disease.
Donor transplant option - In-depth guide
B-cell acute lymphoblastic leukemia (B-ALL)
B-cell acute lymphoblastic leukemia (B-ALL) is a fast-growing cancer of immature B lymphocytes. Treatment often controls it without transplant, while donor transplantation and selected immunotherapies are important for some higher-risk or relapsed cases.
Donor transplant option - In-depth guide
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Chronic lymphocytic leukemia and small lymphocytic lymphoma (CLL/SLL) are two presentations of the same mature B-cell cancer. Many people initially need monitoring; targeted medicines are the usual treatment, and donor transplantation is reserved for selected difficult-to-treat disease.
Limited transplant role - In-depth guide
Chronic myeloid leukemia
Chronic myeloid leukemia (CML) is a blood cancer driven by the BCR::ABL1 fusion. Most people start with a targeted medicine, while a donor stem cell transplant remains an option for resistant disease or progression.
Limited transplant role - Condition overview
Mixed-phenotype acute leukemia, B/myeloid
B/myeloid mixed-phenotype acute leukemia (MPAL) is an acute leukemia with defining features of both B-lymphoid and myeloid lineages. Expert review of cell markers and genetics is needed because this is different from ordinary B-ALL or AML with an occasional extra marker.
Donor transplant option - Condition overview
Philadelphia-positive B-cell acute lymphoblastic leukemia
Philadelphia chromosome-positive ALL is usually a B-lineage acute leukemia containing the BCR::ABL1 fusion. The fusion makes an overactive growth-signaling enzyme, so treatment includes medicines directed at that target.
Donor transplant option - In-depth guide
Sézary syndrome
Sézary syndrome is a mature T-cell lymphoma involving the blood and usually causing widespread inflamed, itchy skin. Systemic treatment is central; a donor stem cell transplant can offer lasting remission for selected eligible patients.
Donor transplant option - In-depth guide
T-cell acute lymphoblastic leukemia (T-ALL)
T-cell acute lymphoblastic leukemia (T-ALL) is a fast-growing cancer of immature T cells. Treatment uses an ALL regimen; donor transplantation is considered when the response or disease features indicate a substantial risk of relapse.
Donor transplant option - Condition overview
T-cell prolymphocytic leukemia
T-cell prolymphocytic leukemia (T-PLL) is a rare, often aggressive cancer of mature T cells. It can produce a very high lymphocyte count, enlarged organs, skin involvement and systemic symptoms.
Donor transplant option
Lymphomas
15Cancers of lymphocytes, a type of white blood cell. There are many subtypes with different treatments.
- In-depth guide
ALK-negative anaplastic large cell lymphoma
ALK-negative anaplastic large cell lymphoma (ALCL) is a CD30-positive T-cell lymphoma without an ALK rearrangement. Treatment commonly uses drug combinations, with autologous or donor transplantation considered in selected situations.
Usually the person’s own cells - In-depth guide
ALK-positive anaplastic large cell lymphoma
ALK-positive anaplastic large cell lymphoma (ALCL) is a CD30-positive T-cell lymphoma driven by an ALK rearrangement. Many patients respond well to initial drug treatment; transplantation is mainly considered for selected higher-risk or relapsed disease.
Limited transplant role - In-depth guide
Angioimmunoblastic T-cell lymphoma
Angioimmunoblastic T-cell lymphoma is now classified as nodal T-follicular helper-cell lymphoma, angioimmunoblastic type. It can disrupt immune function as well as cause lymphoma growth, and treatment may include selected stem cell transplant approaches.
Usually the person’s own cells - In-depth guide
Burkitt lymphoma
Burkitt lymphoma is a rapidly growing mature B-cell cancer associated with abnormal MYC activity. Prompt, specialized drug treatment can cure many patients; stem cell transplantation is not the usual first-line treatment.
Limited transplant role - In-depth guide
Classic Hodgkin lymphoma
Classic Hodgkin lymphoma is a B-cell cancer identified by characteristic Hodgkin and Reed–Sternberg cells. Many people are cured with initial drug treatment, sometimes with radiotherapy; transplant is mainly used when the lymphoma returns or resists treatment.
Usually the person’s own cells - In-depth guide
Diffuse large B-cell lymphoma, not otherwise specified
Diffuse large B-cell lymphoma (DLBCL) is an aggressive cancer of mature B cells. Many people are cured with initial treatment. At relapse, the choice among CAR-T therapy, autologous transplantation and other treatments depends on timing and response.
Cell or gene therapy options - In-depth guide
Extranodal NK/T-cell lymphoma, nasal type
Extranodal NK/T-cell lymphoma is an Epstein-Barr virus-associated lymphoma that often affects the nose and nearby tissues. Treatment depends strongly on its extent; selected advanced or relapsed cases may benefit from a donor transplant.
Donor transplant option - In-depth guide
Follicular lymphoma
Follicular lymphoma is usually a slow-growing B-cell cancer. Treatment ranges from monitoring to radiotherapy, medicines and cellular therapy; transplantation is considered for selected higher-risk or relapsed disease.
Cell or gene therapy options - In-depth guide
Hepatosplenic T-cell lymphoma
Hepatosplenic T-cell lymphoma is a rare, aggressive lymphoma that mainly involves the liver, spleen and bone marrow. Early specialist treatment and donor-transplant assessment are important because ordinary lymphoma chemotherapy alone often gives short-lived control.
Donor transplant option - In-depth guide
Mantle cell lymphoma
Mantle cell lymphoma (MCL) is a mature B-cell cancer with a variable pace. Targeted medicines and immunotherapy are changing treatment, including when autologous transplant is useful; donor transplantation is reserved for selected situations.
Cell or gene therapy options - In-depth guide
Mycosis fungoides
Mycosis fungoides is a T-cell lymphoma that usually begins in the skin. Early disease is often treated with skin-directed therapies; a donor stem cell transplant is an option for selected advanced or difficult-to-treat cases.
Limited transplant role - In-depth guide
Peripheral T-cell lymphoma, not otherwise specified
Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), is a cancer of mature T cells that does not fit another defined subtype. Treatment often uses combination chemotherapy; selected patients may receive an autologous or donor transplant.
Usually the person’s own cells - In-depth guide
Primary CNS lymphoma
Primary central nervous system lymphoma starts in the brain, spinal cord, eyes or nearby coverings without lymphoma elsewhere at diagnosis. Treatment must reach these sites; eligible patients may receive high-dose chemotherapy followed by their own stem cells.
Usually the person’s own cells - In-depth guide
Primary mediastinal large B-cell lymphoma
Primary mediastinal large B-cell lymphoma (PMBCL) is an aggressive lymphoma that usually begins in the chest between the lungs. Initial treatment can be curative; transplantation and CAR-T therapy are mainly considered for resistant or relapsed disease.
Cell or gene therapy options - In-depth guide
Waldenström macroglobulinemia
Waldenström macroglobulinemia is a lymphoplasmacytic lymphoma that produces an IgM antibody protein. Some people need only monitoring; medicines are the usual treatment, with transplantation reserved for selected relapsed disease.
Limited transplant role
Myelodysplastic neoplasms
5Disorders in which abnormal blood formation leads to low blood counts. Treatment depends on the disease’s risk and its effects.
- In-depth guide
Chronic myelomonocytic leukemia
Chronic myelomonocytic leukemia (CMML) is a blood cancer with both abnormal blood-cell development and excess monocytes. Treatment depends on its pace and risk; a donor stem cell transplant is the established option with curative potential for eligible people.
Donor transplant option - In-depth guide
Myelodysplastic neoplasm with biallelic TP53 inactivation
MDS with biallelic TP53 inactivation is a high-risk myelodysplastic neoplasm in which both copies of an important tumor-suppressor gene are affected. Donor transplantation may offer a chance of lasting disease control, but relapse remains a major concern.
Donor transplant option - In-depth guide
Myelodysplastic neoplasm with increased blasts
MDS with increased blasts is a myelodysplastic neoplasm with a raised proportion of immature blood cells. It often follows a higher-risk treatment pathway, including consideration of a donor stem cell transplant for eligible people.
Donor transplant option - In-depth guide
Myelodysplastic neoplasm with low blasts and isolated 5q deletion
MDS with low blasts and a 5q deletion is a marrow cancer with loss of genetic material from chromosome 5. Anemia is often the main problem, and many people start with blood-supporting treatment rather than a donor transplant.
Limited transplant role - In-depth guide
Myelodysplastic neoplasm with low blasts and SF3B1 mutation
MDS with low blasts and an SF3B1 mutation is a genetically defined marrow cancer that often causes anemia. Many people receive monitoring and treatment to improve blood production; donor transplantation is considered only in selected circumstances.
Limited transplant role
Myeloproliferative neoplasms
5Conditions in which the marrow makes too many blood cells. Some involve marrow scarring or a risk of progression.
- Condition overview
Chronic neutrophilic leukemia
Chronic neutrophilic leukemia (CNL) is a rare blood cancer in which the marrow makes too many mature neutrophils. It commonly involves a CSF3R gene alteration and must be distinguished from infection-related neutrophilia and other myeloid cancers.
Donor transplant option - In-depth guide
Juvenile myelomonocytic leukemia
Juvenile myelomonocytic leukemia (JMML) is a rare blood cancer of early childhood driven by abnormal RAS-pathway signaling. Most children need a donor stem cell transplant, while a small genetically defined group may follow a different course.
Donor transplant option - Condition overview
Post-essential thrombocythemia myelofibrosis
Post-essential thrombocythemia myelofibrosis is progression of a previously established essential thrombocythemia (ET) to a fibrotic marrow disorder. Anemia, an enlarged spleen and other changes can replace the earlier pattern of mainly raised platelets.
Donor transplant option - Condition overview
Post-polycythemia vera myelofibrosis
Post-polycythemia vera myelofibrosis is progression of previously established polycythemia vera (PV) to a fibrotic marrow disorder. Blood production and symptoms change; anemia and an enlarged spleen may develop after the earlier phase of excess red cells.
Donor transplant option - Condition overview
Primary myelofibrosis
Primary myelofibrosis is a blood-forming stem cell cancer that disrupts marrow function and can cause marrow scarring. Blood production may shift to the spleen and liver, leading to enlarged organs and symptoms.
Donor transplant option
Plasma cell disorders
4Conditions of the antibody-making cells in the marrow. Most transplants here use the person’s own cells.
- In-depth guide
Immunoglobulin-related amyloidosis (AL amyloidosis)
AL amyloidosis occurs when an abnormal cell clone produces antibody light chains that misfold and damage organs. Treatment suppresses that clone; some carefully selected patients receive high-dose chemotherapy followed by their own stem cells.
Usually the person’s own cells - In-depth guide
Multiple myeloma
Multiple myeloma is a cancer of antibody-producing plasma cells. Treatment combines medicines directed at the myeloma; eligible patients may receive high-dose chemotherapy followed by their own stem cells, while donor transplantation is uncommon.
Cell or gene therapy options - In-depth guide
POEMS syndrome
POEMS syndrome is a rare disorder caused by an abnormal plasma-cell population, with nerve damage and effects on several organs. Treatment targets the plasma cells; an autologous stem cell transplant is an option for eligible people with systemic disease.
Usually the person’s own cells - In-depth guide
Primary plasma cell leukemia
Primary plasma cell leukemia is an aggressive plasma-cell cancer with malignant plasma cells circulating in blood at diagnosis. Treatment is urgent and often combines modern myeloma medicines with selected transplant strategies.
Usually the person’s own cells
Bone marrow failure
8Conditions in which the marrow cannot produce enough healthy blood cells. Causes may be inherited or acquired.
- In-depth guide
Acquired severe aplastic anemia
Aplastic anemia is a serious failure of blood-cell production, usually caused by an immune attack on the bone marrow. It is not a cancer. Immunosuppressive treatment and a donor stem-cell transplant are both established approaches; the best route depends on the person and their available donors.
Donor transplant option - In-depth guide
Diamond-Blackfan anemia
Diamond-Blackfan anemia, also called DBA syndrome, is a genetic condition that mainly reduces red-blood-cell production. Treatment may involve corticosteroids, transfusions with iron removal, or a donor transplant. Growth, congenital differences and cancer susceptibility also need attention.
Donor transplant option - In-depth guide
Dyskeratosis congenita
Dyskeratosis congenita is part of a group of genetic telomere biology disorders that can affect bone marrow, lungs, liver and other tissues. A donor transplant can treat severe marrow failure, but it does not correct the telomere disorder throughout the body.
Donor transplant option - In-depth guide
Fanconi anemia
Fanconi anemia is a genetic disorder of DNA repair that can affect blood production, growth and several organs, and increases cancer risk. A donor transplant can treat severe marrow failure and some blood cancers, but it does not correct the disorder throughout the body.
Donor transplant option - In-depth guide
MPL-related congenital amegakaryocytic thrombocytopenia
MPL-related congenital amegakaryocytic thrombocytopenia is a genetic disorder that causes too few platelets and can progress to broader marrow failure. A donor stem-cell transplant can restore blood production. Confirming the genetic cause matters because similar-looking conditions may need different treatment.
Donor transplant option - In-depth guide
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria, or PNH, is an acquired blood disorder in which some blood cells lack protection from complement, part of the immune system. It can cause red-cell destruction and dangerous clots. Medicines usually lead treatment; donor transplantation has a selective role.
Limited transplant role - In-depth guide
Severe congenital neutropenia
Severe congenital neutropenia is a group of genetic disorders that cause persistently low levels of neutrophils, white blood cells that help fight infection. Growth-factor treatment benefits many people. A donor transplant is considered when infection control or marrow findings make that the safer long-term option.
Limited transplant role - In-depth guide
Shwachman-Diamond syndrome
Shwachman-Diamond syndrome is a genetic disorder that can affect the pancreas, blood production, growth and bones. Care often combines pancreatic enzymes, nutrition support and blood monitoring. A donor transplant treats serious marrow disease, while problems outside the blood system may persist.
Limited transplant role
Inherited red blood cell disorders
3Conditions carried in the genes that change how red blood cells are shaped or how long they last.
- In-depth guide
Pyruvate kinase deficiency
Pyruvate kinase deficiency is a genetic enzyme disorder that leaves red blood cells short of energy and causes them to break down early. Treatment is individualized and can include transfusions, iron removal and targeted medicine. Donor transplantation is a rare option for selected severe disease.
Limited transplant role - In-depth guide
Sickle cell disease
Sickle cell disease is a group of inherited hemoglobin disorders that can cause anemia, pain, infection and organ injury. Medicines, prevention and transfusion are central to care. A donor transplant or gene therapy can offer a major change in disease course for selected people, with substantial treatment risks.
Cell or gene therapy options - In-depth guide
Transfusion-dependent beta-thalassemia
Transfusion-dependent beta-thalassemia is an inherited hemoglobin disorder that requires regular red-cell transfusions. Iron management is essential alongside transfusion. A donor transplant or an approved gene therapy may offer transfusion independence for selected people, but each requires careful assessment and long-term care.
Cell or gene therapy options
Inherited immune disorders
19Genetic conditions that affect immune defenses or regulation. Some present in infancy; others are recognized later in life.
- Condition overview
Adenosine deaminase-deficient severe combined immunodeficiency
ADA-deficient SCID is a genetic immune disorder in which a missing enzyme allows toxic metabolites to build up, impairing infection-fighting cells. ADA deficiency can also affect organs outside the immune system and can have later-onset forms.
Cell or gene therapy options - Condition overview
CD40 ligand deficiency
CD40 ligand deficiency is an X-linked immune disorder that impairs communication between immune cells, including the ability to make effective antibody responses. Serious infections, neutropenia and liver or intestinal complications can occur.
Donor transplant option - Condition overview
Chronic granulomatous disease
Chronic granulomatous disease is a genetic disorder in which certain immune cells cannot generate a normal antimicrobial oxidative response. It causes susceptibility to particular bacterial and fungal infections and can also cause harmful inflammation.
Donor transplant option - Condition overview
Combined immunodeficiency due to DOCK8 deficiency
DOCK8 deficiency is a genetic combined immune disorder associated with recurrent infections, severe viral skin infections, eczema and allergic disease. Some affected people also develop malignancy.
Donor transplant option - Condition overview
DCLRE1C-associated Artemis-deficient severe combined immunodeficiency
Artemis-deficient SCID is caused by DCLRE1C variants that impair DNA repair needed to build immune-cell receptors. Severe forms lack effective T- and B-cell immunity; partial defects can present differently or later.
Donor transplant option - Condition overview
Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis (familial HLH) is an inherited immune disorder in which immune activation does not switch off properly. It can cause severe inflammation and organ damage; it is not a blood cancer.
Donor transplant option - Condition overview
GATA2 deficiency syndrome
GATA2 deficiency is a genetic syndrome affecting blood-forming and immune cells. It can cause unusual infections, low blood counts and a predisposition to myelodysplastic neoplasms or acute myeloid leukemia; some people also have lymphatic or lung problems.
Donor transplant option - Condition overview
IL2RG-associated X-linked severe combined immunodeficiency
IL2RG-associated SCID disrupts immune signaling needed for T-cell and natural-killer-cell development. B cells may be present but function poorly. Some IL2RG variants cause less typical, later presentations.
Donor transplant option - Condition overview
IL7R-deficient severe combined immunodeficiency
IL7R-deficient SCID is a genetic disorder that prevents normal T-cell development. B cells and natural-killer cells are typically present, but the lack of effective T-cell immunity leaves a child vulnerable to serious infection.
Donor transplant option - Condition overview
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
IPEX syndrome is an X-linked disorder of immune regulation caused by FOXP3 variants. The immune system can attack the intestine, skin and endocrine organs, causing severe diarrhea, eczema and autoimmune disease such as diabetes.
Donor transplant option - Condition overview
JAK3-deficient severe combined immunodeficiency
JAK3-deficient SCID is a recessive genetic disorder that disrupts immune signaling. T cells and natural-killer cells are usually profoundly reduced, while B cells may be present but cannot provide normal protection.
Donor transplant option - Condition overview
Leukocyte adhesion deficiency type I
Leukocyte adhesion deficiency type I is an ITGB2-related immune disorder that prevents white blood cells from moving normally from the bloodstream into infected tissues. Severe disease causes recurrent infections and poor wound healing.
Cell or gene therapy options - Condition overview
MHC class II deficiency
MHC class II deficiency impairs the display of signals that help immune cells recognize threats and coordinate a response. It causes severe combined immune dysfunction, often with infections, chronic diarrhea and poor growth.
Donor transplant option - Condition overview
Purine nucleoside phosphorylase deficiency
PNP deficiency is a genetic disorder of purine breakdown. Toxic metabolites particularly harm T-cell immunity, and affected people may have recurrent infections, autoimmunity and neurologic or developmental problems.
Donor transplant option - Condition overview
RAG1 deficiency
RAG1 deficiency impairs the DNA rearrangement needed to build T- and B-cell receptors. Severe loss of function can cause SCID; partial function can cause Omenn syndrome or later combined immunodeficiency with infection and immune dysregulation.
Donor transplant option - Condition overview
RAG2 deficiency
RAG2 deficiency impairs the DNA rearrangement needed to build T- and B-cell receptors. Severe loss of function can cause SCID; partial function can cause Omenn syndrome or later combined immunodeficiency with infection and immune dysregulation.
Donor transplant option - Condition overview
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome is an X-linked disorder affecting platelets and immune function. It can cause bleeding, eczema, infections and autoimmunity, with increased risk of some cancers.
Cell or gene therapy options - Condition overview
X-linked lymphoproliferative disease type 1 due to SH2D1A deficiency
XLP1 is an SH2D1A-related immune-regulation disorder. It can cause life-threatening inflammatory illness such as HLH, abnormal antibody levels and lymphoma; Epstein–Barr virus is an important trigger, although disease is not limited to one infection.
Donor transplant option - Condition overview
XIAP deficiency (XLP2)
XIAP deficiency is an X-linked disorder of immune regulation, historically called XLP2. It can cause HLH, recurrent inflammation and inflammatory bowel disease, including illness that is not triggered by Epstein–Barr virus.
Donor transplant option
Inherited metabolic disorders
14Genetic conditions that disrupt how the body processes substances. Transplant is an option for selected disorders and stages.
- Condition overview
Adult-onset metachromatic leukodystrophy
Adult-onset metachromatic leukodystrophy is a later form of an inherited sulfatide-storage disorder, usually caused by ARSA deficiency. It damages myelin in the nervous system and may first appear as changes in behavior, thinking or movement.
Limited transplant role - Condition overview
Alpha-mannosidosis
Alpha-mannosidosis is a MAN2B1-related lysosomal disorder in which certain sugar-containing molecules accumulate. It can affect hearing, learning, bones, movement and immunity, with widely varying severity.
Limited transplant role - Condition overview
Early-juvenile metachromatic leukodystrophy
Early-juvenile metachromatic leukodystrophy is a childhood form of an inherited disorder in which sulfatides accumulate and damage myelin. Movement, learning and other neurologic functions can deteriorate.
Cell or gene therapy options - Condition overview
Fucosidosis
Fucosidosis is a FUCA1-related lysosomal enzyme disorder. Accumulated molecules can affect development, movement, breathing, hearing, skin and the skeleton; severity varies.
Limited transplant role - Condition overview
Gaucher disease type 3
Gaucher disease type 3 is a GBA1-related lysosomal disorder with both systemic and slowly progressive neurologic manifestations. It can affect blood counts, liver, spleen, bones and eye movements or other nervous-system functions.
Limited transplant role - Condition overview
Infantile Krabbe disease
Infantile Krabbe disease is a genetic disorder, usually caused by GALC deficiency, that damages myelin in the brain and peripheral nerves. Early disease can progress quickly, making assessment before symptoms especially important.
Donor transplant option - Condition overview
Late-infantile and juvenile Krabbe disease
Later-onset Krabbe disease is a GALC-related disorder in which myelin damage begins after the earliest infantile period. It can affect walking, vision, coordination and other neurologic functions, with variable progression.
Donor transplant option - Condition overview
Late-infantile metachromatic leukodystrophy
Late-infantile metachromatic leukodystrophy is a rapidly progressive early-childhood disorder, usually caused by ARSA deficiency. Accumulated sulfatides damage the insulating myelin around nerves, affecting movement and other neurologic functions.
Cell or gene therapy options - Condition overview
Late-juvenile metachromatic leukodystrophy
Late-juvenile metachromatic leukodystrophy is a later-childhood form of an inherited sulfatide-storage disorder. Myelin damage can affect learning, behavior, walking and other neurologic functions.
Donor transplant option - Condition overview
Mucolipidosis II alpha/beta
Mucolipidosis II alpha/beta is a GNPTAB-related disorder that disrupts the delivery of several enzymes to lysosomes. It can cause severe skeletal, growth, cardiac and respiratory problems beginning very early in life.
Limited transplant role - Condition overview
Mucopolysaccharidosis type I, Hurler syndrome
Hurler syndrome is the severe form of mucopolysaccharidosis type I, caused by IDUA deficiency. Glycosaminoglycans accumulate and can affect development, bones, joints, heart, breathing, hearing and vision.
Donor transplant option - Condition overview
Niemann-Pick disease type C2
NPC2-related Niemann-Pick disease type C is a genetic disorder of intracellular lipid transport. It can affect the liver, spleen, lungs and nervous system; some infants have severe pulmonary disease.
Limited transplant role - Condition overview
Severe infantile autosomal recessive osteopetrosis
Severe infantile autosomal recessive osteopetrosis is a genetic disorder of bone remodeling. Overly dense bone can reduce marrow space and compress nerves. The historic word “malignant” describes severity; it does not mean cancer.
Donor transplant option - Condition overview
X-linked cerebral adrenoleukodystrophy
Cerebral X-linked adrenoleukodystrophy is an ABCD1-related disorder in which inflammatory myelin damage can cause progressive neurologic loss. Not everyone with an ABCD1 variant develops cerebral disease.
Donor transplant option
Histiocytic disorders
2Conditions of the immune cells that normally clear away debris and infection, when too many are made or they behave wrongly.
- Condition overview
Blastic plasmacytoid dendritic cell neoplasm
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare aggressive cancer of immature plasmacytoid dendritic cells. It often appears in the skin but can also involve marrow, blood, lymph nodes and the central nervous system.
Donor transplant option - Condition overview
Langerhans cell histiocytosis
Langerhans cell histiocytosis (LCH) is a clonal myeloid disorder driven by abnormal MAPK signaling. Abnormal cells accumulate in tissues such as bone, skin, pituitary, lung or other organs; the disease ranges from a single lesion to high-risk multisystem illness.
Limited transplant role
Autoimmune conditions
8Conditions in which the immune system attacks healthy tissue. Selected severe cases may be treated using the person’s own stem cells.
- Condition overview
Chronic inflammatory demyelinating polyradiculoneuropathy
CIDP is an immune-mediated disorder of peripheral nerves and their roots. Damage to myelin can cause progressive or relapsing weakness, altered sensation and difficulty with movement.
Limited transplant role - Condition overview
Crohn disease
Crohn disease is a chronic inflammatory bowel disease that can affect different parts of the digestive tract. It can cause diarrhea, pain, weight loss, intestinal narrowing, fistulas and complications outside the bowel.
Limited transplant role - Condition overview
Early diffuse cutaneous systemic sclerosis
Early diffuse cutaneous systemic sclerosis is a form of systemic autoimmune disease involving blood vessels, skin thickening and potentially internal-organ fibrosis. It is distinct from localized scleroderma and from other systemic-sclerosis patterns.
Usually the person’s own cells - Condition overview
Highly active relapsing multiple sclerosis
Highly active relapsing multiple sclerosis is an inflammatory disease of the central nervous system with continuing relapses or new disease activity despite treatment. Damage to myelin and nerve fibers can affect movement, sensation, vision and other functions.
Usually the person’s own cells - Condition overview
Myasthenia gravis
Myasthenia gravis is an autoimmune disorder that disrupts signaling from nerves to muscles. Weakness can affect the eyes, face, limbs, swallowing or breathing and often varies over time.
Limited transplant role - Condition overview
Neuromyelitis optica spectrum disorder
Neuromyelitis optica spectrum disorder is an inflammatory central-nervous-system disease that often affects the optic nerves and spinal cord. Many cases involve aquaporin-4 antibodies targeting astrocytes; it is distinct from multiple sclerosis.
Limited transplant role - Condition overview
Stiff-person spectrum disorder
Stiff-person spectrum disorders can cause marked muscle stiffness and painful spasms, often triggered by movement or sensory stimuli. Immune mechanisms are involved, but the spectrum includes different antibody and clinical patterns.
Limited transplant role - Condition overview
Systemic lupus erythematosus
Systemic lupus erythematosus is an autoimmune disease that can affect skin, joints, blood, kidneys, the nervous system and other organs. Disease activity and the combination of affected organs vary widely.
Limited transplant role
Solid tumors
14Cancers that form in tissues or organs. Stem cell transplantation has a role in selected cancers; it is not routine for most.
- Condition overview
Atypical teratoid/rhabdoid tumor of the central nervous system
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive tumor of the brain or spinal cord, often associated with loss of SMARCB1 function or, less commonly, SMARCA4. Tissue and molecular testing guide diagnosis and may prompt genetic counseling.
Limited transplant role - Condition overview
Breast cancer
Breast cancer is a group of cancers arising in breast tissue. Stage and tumor features, including hormone-receptor and HER2 status, strongly influence treatment; it is not ordinarily a disease treated by replacing the marrow.
Limited transplant role - Condition overview
Central nervous system germinoma
A CNS germinoma is a germ-cell tumor arising in the brain, often near the pineal or suprasellar regions. Its location can affect fluid circulation, vision or hormone function. It is treated differently from nongerminomatous CNS germ-cell tumors.
Limited transplant role - Condition overview
Central nervous system nongerminomatous germ cell tumor
CNS nongerminomatous germ-cell tumors are a varied group of brain tumors that includes several germ-cell histologies and mixed tumors. Imaging, tissue when appropriate and tumor markers distinguish them from pure germinoma and other brain tumors.
Limited transplant role - Condition overview
Ewing sarcoma
Ewing sarcoma is an aggressive cancer of bone or soft tissue, usually defined by a characteristic gene fusion. Treatment addresses both the visible tumor and the risk of disease elsewhere in the body.
Limited transplant role - Condition overview
Medulloblastoma
Medulloblastoma is a malignant brain tumor that begins in the cerebellum and can spread through cerebrospinal fluid. Molecular subgroup, age and disease spread help determine risk and treatment.
Limited transplant role - Condition overview
Neuroblastoma
Neuroblastoma is a cancer of immature sympathetic nerve cells, often arising in or near an adrenal gland. Its behavior ranges from tumors that can regress to high-risk metastatic disease, so treatment is strongly risk-adapted.
Usually the person’s own cells - Condition overview
Ovarian germ cell tumor
Ovarian germ-cell tumors arise from cells in the ovary that normally develop into eggs. They include several tumor types and differ from the more common epithelial ovarian cancers.
Limited transplant role - Condition overview
Pineoblastoma
Pineoblastoma is a rare aggressive tumor of the pineal region of the brain. It can obstruct cerebrospinal fluid and spread within the central nervous system. Molecular subtype and age influence treatment and prognosis.
Limited transplant role - Condition overview
Primary mediastinal nonseminomatous germ cell tumor
Primary mediastinal nonseminomatous germ-cell tumor is a germ-cell cancer that begins in the chest between the lungs. It is distinct from a lymphoma and from a testicular tumor that has spread to the chest.
Limited transplant role - Condition overview
Retinoblastoma
Retinoblastoma is a cancer of the retina in young children. RB1-related genetic findings can affect one or both eyes and may have implications for family testing and future cancer risk.
Limited transplant role - Condition overview
Testicular nonseminomatous germ cell tumor
Testicular nonseminomatous germ-cell tumors include several histologies, such as embryonal carcinoma, yolk-sac tumor, choriocarcinoma and teratoma, often in mixed tumors. Stage, tumor markers and the specific components guide treatment.
Limited transplant role - Condition overview
Testicular seminoma
Testicular seminoma is a germ-cell cancer that usually responds well to treatment. Pure seminoma is managed differently from nonseminomatous or mixed germ-cell tumors, so pathology and tumor markers matter.
Limited transplant role - Condition overview
Wilms tumor
Wilms tumor is a childhood kidney cancer. Stage, tissue findings, molecular features and whether one or both kidneys are affected help determine treatment; some children have an underlying genetic predisposition.
Limited transplant role
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help JBF reach more people who may be able to donate.
Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
Find your official registryIf joining is not right for you, a gift to the Jada Bascom Foundation supports education, outreach and referrals to official registries.
Donate to JBF
