Condition group
Inherited immune disorders
Inherited immune disorders are genetic conditions that weaken or misdirect the immune system. Some show in infancy; others are recognized later in life. The library has guides to 30 of them, including X-linked severe combined immunodeficiency (X-SCID), chronic granulomatous disease (CGD) and familial HLH (hemophagocytic lymphohistiocytosis). Of these 30, 25 have a donor transplant as an established option for selected patients, 3 have cell or gene therapies that may be options for eligible patients in some countries and 2 are usually treated without a transplant.
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30 conditions2 diagnosis guides
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Diagnosis guides for inherited immune disorders
Some diagnoses cover several subtypes. These guides explain how they fit together.
30 conditions compared
Who do inherited immune disorders affect, and where does transplant fit?
| Condition | Who it affects | How it is passed on | Where transplant fits |
|---|---|---|---|
| Donor transplant option25 conditions | |||
| Activated PI3K-delta syndrome (APDS)In APDS, a gene change keeps an immune-cell enzyme switched on too much. That brings repeated infections and a higher risk of lymphoma. | Signs usually begin in early childhood (median age at first problem 1 year; median age at diagnosis about 9 years in the UK Primary Immunodeficiency Registry, as reported by NICE in 2025). It affects both sexes. Some mildly affected relatives are diagnosed as adults after a family member. | Autosomal dominant | A stem cell transplant from a related or unrelated donor can reverse APDS. It carries serious risks, so it is weighed case by case, most often for children with severe disease. |
| Artemis-deficient SCID (DCLRE1C)Artemis-deficient SCID is an inherited immune disorder caused by a DNA repair problem. It can leave the body without working T and B cells. | Classic SCID usually presents in infancy or is detected by screening; hypomorphic variants can produce later combined immunodeficiency. | Autosomal recessive | A stem cell transplant from a related or unrelated donor can restore immune cell production. The preparation needs extra care because of the DNA repair problem. |
| CD40 ligand deficiency (X-linked hyper-IgM syndrome)CD40 ligand deficiency is an inherited immune disorder, usually found in boys. Immune cells have trouble working together and making antibodies. | Usually recognized in boys during childhood, although milder or later presentations occur. | X-linked | A stem cell transplant can correct the immune problem. An unrelated registry donor is an option when no suitable family donor is available. |
| Chediak-Higashi syndrome (CHS)Children with Chediak-Higashi syndrome often have light or silvery hair. They get infection after infection and bruise or bleed easily. | Classic CHS is usually recognized in infancy or early childhood; a milder form may not be found until the teen or adult years. NORD reports that it affects males and females equally. | Autosomal recessive | The donor may be a brother or sister, a half-matched relative, an unrelated volunteer or cord blood. A transplant does not prevent the nerve problems that come later. |
| Chronic granulomatous disease (CGD)In chronic granulomatous disease, an inherited disorder, some immune cells cannot fight certain bacteria and fungi normally. The disease can also cause harmful inflammation. | CGD includes X-linked and recessive forms, affecting people of different sexes. It may be recognized in childhood or later. | More than one pattern | A stem cell transplant from a matched relative or suitable unrelated donor can correct the faulty immune cells. It may not undo damage already done. |
| CTLA-4 haploinsufficiency (CTLA-4 insufficiency)A change in one copy of the CTLA4 gene leaves too little of an immune brake. Some people who carry the change never become ill. | Affects males and females. Symptoms can start at any age from infancy to about 60. In a worldwide study of 133 carriers, the median age at onset was 11, and three in four affected people had symptoms before age 18. Some carriers never become ill. | Autosomal dominant | For severe disease, a donor stem cell transplant offers a possible cure. Most transplants for this condition have used unrelated volunteer donors. |
| DOCK8 deficiencyDOCK8 deficiency is an inherited immune disorder. It can cause repeated infections, severe viral skin infections, eczema and allergies. | Usually recognized in childhood, in people with disease-causing variants in both copies of DOCK8. | Autosomal recessive | A stem cell transplant from a related or unrelated donor is an established way to correct the immune defect. Some allergies may remain afterward. |
| Familial HLH (hemophagocytic lymphohistiocytosis)Familial HLH is an inherited immune disorder in which the immune system does not switch off properly. This causes severe inflammation. Familial HLH is not a blood cancer. | Familial HLH often presents in infancy or early childhood, but later childhood and adult presentations occur. | Autosomal recessive | A stem cell transplant is the established treatment that can cure it. The cells can come from a related or unrelated donor, or from cord blood. Family donors are checked for the same condition. |
| GATA2 deficiency syndromeGATA2 deficiency is a genetic condition that affects blood and immune cells. It can cause unusual infections, low blood counts and a higher chance of MDS or leukemia. | Manifestations may appear in childhood or adulthood, and some variant carriers remain without symptoms for years. | Autosomal dominant | A stem cell transplant from a related or unrelated donor can treat serious blood and immune problems. Relatives are tested for the family's GATA2 change before being considered as donors. |
| Griscelli syndrome type 2 (GS2)Griscelli syndrome type 2 is a rare inherited immune disorder. Many children have silvery-gray hair, and most develop a dangerous inflammation called HLH. | Usually begins in infancy or early childhood (median age at diagnosis 1.5 years in a 2024 review of 149 patients), but it has been diagnosed from 10 days to 42 years of age. Most reported families had parents related by blood, with founder gene changes in Middle Eastern and European families. | Autosomal recessive | A donor stem cell transplant is the only cure. The donor can be a matched relative or an unrelated volunteer. Brothers and sisters are checked for GS2 first. |
| IL7R-deficient SCIDIL7R-deficient SCID is an inherited disorder that stops T cells from developing normally. This leaves a child open to serious infections. | Usually detected in infancy or through newborn screening; both sexes can be affected. | Autosomal recessive | A stem cell transplant can supply cells that grow into working T cells. The donor can be related or unrelated. |
| IPEX syndromeIPEX syndrome is an inherited disorder, usually in boys. The immune system attacks the gut, skin and hormone glands, which can lead to diarrhea, eczema and diabetes. | Usually recognized in boys early in life, although presentation and severity vary. | X-linked | A stem cell transplant from a suitable donor, including an unrelated donor, can restore immune control. Damage such as diabetes may still need treatment. |
| JAK3-deficient SCIDJAK3-deficient SCID is an inherited disorder that disrupts immune signals. As a result, infection-fighting T cells and natural killer cells are usually very low. | Usually presents in infancy or is identified through screening; both sexes can be affected. | Autosomal recessive | A stem cell transplant can rebuild the immune system. The cells may come from a relative, an unrelated donor or another selected donor. |
| LRBA deficiencyIn LRBA deficiency, too little of an immune brake called CTLA-4 is left. That leads to infections and to the immune system attacking the body. | Usually begins in infancy or early childhood, often by preschool age, in children who inherit two changed copies of the LRBA gene. Most reported patients come from Asian countries, and parents are often related to each other. | Autosomal recessive | A donor stem cell transplant is the only treatment reported to cure it. Because of its risks, it is weighed carefully, mostly for severe disease. |
| MHC class II deficiency (bare lymphocyte syndrome type II)MHC class II deficiency is an inherited disorder. Immune cells cannot properly show the signals they need to spot germs and work together. | Usually recognized in infancy or childhood, in both sexes. Several genes controlling MHC class II expression can cause it. | Autosomal recessive | A stem cell transplant from a related or unrelated donor is an established treatment. Some immune problems can remain, because other tissues still carry the gene change. |
| NEMO deficiency (ectodermal dysplasia with immunodeficiency)NEMO deficiency is a rare inherited condition, almost always in boys. It weakens the immune system and changes the skin, hair, teeth and sweat glands. | Almost always boys, because the IKBKG gene is on the X chromosome; mothers usually carry the change. Symptoms usually begin in the first months of life. | X-linked | A donor stem cell transplant can fix the immune problem for severely affected boys. It does not change the skin, hair, teeth or sweating. |
| Purine nucleoside phosphorylase (PNP) deficiencyPNP deficiency is an inherited disorder in which harmful waste builds up and damages T cells. This leads to infections, autoimmune problems and sometimes nerve or development problems. | Often presents in infancy or childhood, but disease severity and age of recognition vary. | Autosomal recessive | A stem cell transplant from a suitable donor, including an unrelated donor, can restore immune function. Nerve damage that has already happened may remain. |
| RAG1 deficiencyRAG1 deficiency is an inherited immune disorder that can cause SCID, Omenn syndrome or later immune problems. Which one appears depends on how well the gene still works. | Can be identified in infancy or later childhood and adulthood, depending on the variants and remaining protein function. | Autosomal recessive | A stem cell transplant from a related or unrelated donor can provide working immune cells. Timing is based on each person's immune pattern, infections and organ health. |
| RAG2 deficiencyRAG2 deficiency is an inherited disorder that disrupts how T and B cells are built. It can cause SCID, Omenn syndrome or immune problems later in life. | Can be identified in infancy or later childhood and adulthood, depending on the variants and remaining protein function. | Autosomal recessive | A stem cell transplant from a related or unrelated donor can give the body working immune cells. Doctors time it around infections and organ health. |
| Reticular dysgenesis (AK2 deficiency SCID)Reticular dysgenesis is the most severe type of SCID. Babies are born with almost no T cells or neutrophils, the white blood cells that fight germs, and usually with hearing loss. | Newborns of either sex; in an international survey, 30 of 32 children presented before 4 weeks of age. Reported more often where parents are related by blood: all 10 children in a 2005–2025 single-center series from Saudi Arabia had related parents. | Autosomal recessive | The cure is a donor transplant, given after chemotherapy. The donor may be a matched or half-matched relative, an unrelated volunteer or cord blood. |
| STAT1 gain-of-function diseaseThrush and other Candida infections of the mouth, skin and nails that keep coming back from early childhood are the most common sign. | Usually begins in early childhood: candidiasis started at a median age of 1 year (range birth to 24 years) in 274 people from 40 countries on 5 continents (published 2016). It affects both sexes; 61% of cases were familial and 39% sporadic. | Autosomal dominant | A stem cell transplant from a related or unrelated donor can replace the immune system. It is used for severe disease, often after JAK inhibitor treatment to lower the risks. |
| X-linked lymphoproliferative disease type 1 (XLP1)XLP1 is an inherited immune disorder, mainly in males. It can cause severe inflammation called HLH, antibody problems and lymphoma. Epstein-Barr virus is a key trigger. | An X-linked disorder predominantly affecting males, with variable age and severity of presentation. | X-linked | A stem cell transplant from a related or unrelated donor can correct the immune defect. It may be considered before severe illness develops. |
| X-linked severe combined immunodeficiency (X-SCID)X-linked SCID is an inherited immune disorder, usually found in baby boys. Key infection-fighting cells, called T cells and natural killer cells, do not develop normally. | An X-linked disorder usually recognized in male infants, including through newborn screening or family testing. | X-linked | A stem cell transplant from a sibling, unrelated donor or other family donor is an established treatment. Gene therapy using the child’s own cells is available only in clinical trials. |
| XIAP deficiency (XLP2)XIAP deficiency is an inherited immune disorder that mostly affects males. It can cause HLH, repeated bouts of inflammation and inflammatory bowel disease. | Usually affects males, with presentation ranging from early life to adulthood. | X-linked | A stem cell transplant from a related or unrelated donor can treat serious immune disease. Transplant can be especially hard with this condition, so doctors take extra care. |
| ZAP-70 deficiencyIn ZAP-70 deficiency, killer (CD8) T cells are nearly missing, and the other T cells cannot switch on properly. | Usually recognized in the first year of life, in boys and girls. It is inherited in an autosomal recessive pattern. It was first described in Mennonite families and has since been reported in many populations, often where parents are related by blood. | Autosomal recessive | A donor stem cell transplant is the only known cure. The donor can be a matched brother or sister, an unrelated volunteer, a parent or cord blood. |
| Cell or gene therapy options3 conditions | |||
| ADA-SCID (adenosine deaminase-deficient SCID)ADA-SCID is a genetic immune disorder caused by a missing enzyme. Harmful substances build up and damage infection-fighting cells, and sometimes other organs. | Classic ADA-SCID usually presents early in life, but partial defects can cause delayed combined immunodeficiency. | Autosomal recessive | A transplant from a matched relative can restore immunity. So can gene therapy using the person’s own cells, which is approved in the European Union but not the US. If neither is possible, an unrelated or half-matched donor is considered. |
| Leukocyte adhesion deficiency type I (LAD-I)Leukocyte adhesion deficiency type I is an inherited immune disorder. White blood cells cannot move from the blood into infected tissue normally. | Severe disease often becomes evident in infancy. Milder ITGB2-related disease can have a different course. | Autosomal recessive | A donor transplant can restore working immune cells. In the US, some children with severe LAD-I and no matched sibling donor can have gene therapy using their own cells. |
| Wiskott-Aldrich syndrome (WAS)Wiskott-Aldrich syndrome is an inherited disorder that usually affects boys. It affects platelets and the immune system and can cause bleeding, eczema and infections. | Usually affects boys from infancy or childhood. Related WAS-gene disorders can have milder or different manifestations. | X-linked | A donor transplant can correct the blood and immune problems. In the US and the European Union, gene therapy using the patient’s own cells is an option for some people without a matched related donor. |
| Limited transplant role2 conditions | |||
| Autoimmune lymphoproliferative syndrome (ALPS)ALPS is a rare inherited immune disorder. White blood cells called lymphocytes do not die off when they should. So lymph nodes and the spleen swell, and the immune system may attack blood cells. | Usually begins in early childhood. In a U.S. National Institutes of Health (NIH) study of 150 people with ALPS-FAS, the median age when the illness began was 2.7 years and about two-thirds were male. It can also be found in adults. | More than one pattern | A donor stem cell transplant is rarely needed. It has been used for a few people with very severe disease or lymphoma. |
| Common variable immunodeficiency (CVID)Common variable immunodeficiency (CVID) is an immune disorder in which the body makes too few antibodies. This leads to repeated ear, sinus and lung infections, and sometimes autoimmune or gut problems. | Usually diagnosed in adults in their 20s or 30s, although about 1 in 5 people have symptoms or are found to have an immune problem in childhood. It affects both males and females. | Not listed | A donor stem cell transplant is rare in CVID. Because its risks are high, it is weighed only for a few people with very serious complications. |
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health.
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