| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Tuberculosis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Polyneuropathy with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Failure to thrive in infant with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Pneumonia with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Blindness with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Infective arthritis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Candidiasis of mouth with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Thrombocytopenia with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Encephalopathy with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Respiratory disorder with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Strongyloidiasis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Myocarditis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Noninfectious gastroenteritis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Central nervous disorder with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Neuritis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Encephalomyelitis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Herpes zoster with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Neuralgia with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Dyspnea with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Low vision with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Hyperhidrosis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Malignant neoplasm with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Coccidioidomycosis with acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Cholangitis with AIDS (acquired immunodeficiency syndrome) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Infectious disease with acquired immune deficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Benign granulocytopenia in childhood |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Febrile granulocytopenia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Complement component 8 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Basophilic leukemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Hemophagocytic lymphohistiocytosis due to infection (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Agranulocytosis caused by antithyroid agent (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare, genetic, primary immunodeficiency disorder characterised by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, haemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinaemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anaemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare, and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Differentiation syndrome due to and following chemotherapy co-occurrent with acute promyelocytic leukemia (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| X-linked agammaglobulinemia with growth hormone deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Bronchiolitis obliterans syndrome following allogeneic stem cell transplant |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Bronchiolitis obliterans syndrome due to and after lung transplantation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare severe combined immunodeficiency characterised by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, haematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly. |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare, combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due to a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Familial hemophagocytic lymphohistiocytosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Macrophage activation syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Macrophage activation syndrome due to juvenile systemic onset arthritis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Leukocyte adhesion deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Leukocyte adhesion deficiency - type 1 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Leucocyte adhesion deficiency - type 2 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Reticular dysgenesis with congenital aleucocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Reticular dysgenesis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Severe combined immunodeficiency with reticular dysgenesis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Wiskott-Aldrich autosomal dominant variant syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Functional disorder of polymorphonuclear neutrophil (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterised by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterised by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia, and superficial lymphadenopathy, without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules, and plaques most commonly found on the trunk, but also the face, neck, and axillae. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis. |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder). |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Immune effector cell-associated neurotoxicity syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Autoinflammatory disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Familial Mediterranean fever |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Familial amyloid nephropathy with urticaria AND deafness |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Chronic infantile neurological, cutaneous and articular syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Hereditary periodic fever (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| TNF receptor-associated periodic fever syndrome (TRAPS) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Cryopyrin associated periodic syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Nakajo-Nishimura syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Monogenic autoinflammatory syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| A rare granulomatous autoinflammatory syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
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