| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Immunoglobulin heavy chain deficiency |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Immunoglobulin light chain deficiency |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Immunoglobulin subclass deficiency |
Is a |
False |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Immunoglobulin-associated molecule deficiency |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Specific antibody deficiency |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Primary immunoglobulin catabolism abnormality |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Phagocytic cell defect |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Tuftsin deficiency |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Immunodeficiency with major anomalies |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| De Vaal's syndrome |
Is a |
False |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Disorder of complement |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Severe combined immunodeficiency disease |
Is a |
False |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Immunodeficiency associated with chromosomal abnormality |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| immunglobulinmangel |
Is a |
False |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Combined immunodeficiency disease |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Interleukin-12 deficiency |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Mannose-binding lectin deficiency (disorder) |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Activated PI3K-delta syndrome |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| An immunodeficiency disorder with onset in infancy that leads to recurrent, severe infections of the respiratory tract. Infections are most frequently caused by rhinovirus. Respiratory syncytial virus and the influenza virus may also cause recurrent infections. Infection may require hospital admission and repeated infection can lead to chronic lung disease. Infections usually become less frequent with maturity. Caused by mutations in the IFIH1 gene, which provides instructions for making the MDA5 protein. Deficiency of MDA5 protein activity reduces interferon production in response to RNA-containing viruses. The inheritance pattern is unclear. In some cases, the condition seems to follow an autosomal recessive pattern, in other cases it appears that the condition is inherited in an autosomal dominant pattern. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischaemic or haemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease characterised by the association of common variable immunodeficiency manifesting with hypogammaglobulinaemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of severe immunodeficiency. The disease presents with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease such as alopecia universalis, erythrodermia and autoimmune thyroiditis and enteropathy. Caused by homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic primary immunodeficiency due to a defect in innate immunity disorder with characteristics of impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections. Caused by homozygous mutation in the STAT1 gene on chromosome 2q32. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare primary immunodeficiency due to a defect in innate immunity disorder with characteristics of selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic autoinflammatory syndrome with immune deficiency disease characterised by recurrent and severe flares of generalised pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Autoimmune lymphoproliferative syndrome |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| X-linked lymphoproliferative syndrome |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare autosomal recessive primary immunodeficiency characterised by infancy onset of severe inflammatory bowel disease with life-threatening diarrhoea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophytosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Disorder of immunoglobulin |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Common variable agammaglobulinemia |
Is a |
False |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Common variable immunodeficiency |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Hyperimmunoglobulin M syndrome |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| A rare autoinflammatory syndrome with immune deficiency characterised by recurrent infections (bacterial and viral) due to NCKAP1L mutations. Patients present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteraemia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed. |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
| Anhidrotic ectodermal dysplasia with immune deficiency (disorder) |
Is a |
True |
Primary immune deficiency disorder |
Inferred relationship |
Some |
|
FHIR