Condition group
Inherited immune disorders
Genetic conditions that affect immune defenses or regulation. Some present in infancy; others are recognized later in life.
Start with the name you were given
Some diagnoses cover several subtypes. These guides explain how they fit together.
Conditions in this group
Grouped by the part transplant usually plays. Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health.
Donor transplant option 16
A transplant using a donor’s blood-forming cells is an established option for selected patients. A team may consider relatives, unrelated registry donors or cord blood, depending on the circumstances.
- In-depth guide
Artemis-deficient SCID (DCLRE1C)
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 - In-depth guide
CD40 ligand deficiency (X-linked hyper-IgM syndrome)
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 - In-depth guide
Chronic granulomatous disease (CGD)
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 - In-depth guide
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 - In-depth guide
Familial HLH (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 - In-depth guide
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 - In-depth guide
IL7R-deficient SCID
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 - In-depth guide
IPEX 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 - In-depth guide
JAK3-deficient SCID
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 - In-depth guide
MHC class II deficiency (bare lymphocyte syndrome type II)
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 - In-depth guide
Purine nucleoside phosphorylase (PNP) 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 - In-depth guide
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 - In-depth guide
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 - In-depth guide
X-linked lymphoproliferative disease type 1 (XLP1)
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 - In-depth guide
X-linked severe combined immunodeficiency (X-SCID)
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 - In-depth guide
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
Cell or gene therapy options 3
Cell or gene therapies may be options for eligible patients in some countries. They do not all work the same way, use the same cells or replace the same type of transplant.
- In-depth guide
ADA-SCID (adenosine deaminase-deficient SCID)
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 - In-depth guide
Leukocyte adhesion deficiency type I (LAD-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 - In-depth guide
Wiskott-Aldrich syndrome (WAS)
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
Limited transplant role 1
Other treatments are usual. Transplant may be considered in selected circumstances or research settings, as described on the condition page.
Other condition groups
Understanding transplant
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help more people find the donor they need.
Join the registry
JBF points you to the official registry that serves your country. It explains who can join and what donation involves.
Help someone you love find a donor
If someone you love needs a donor, our family guide explains practical ways to help. A registration drive can add many potential donors at once, for them and for others.
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