Inflammation (from Latin: inflammatio) is part of the biological response of body tissues to harmful stimuli, such as pathogens, damaged cells, or irritants.[1][2] The five cardinal signs are heat, pain, redness, swelling, and loss of function (Latin calor, dolor, rubor, tumor, and functio laesa).

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Wiki: Acute inflammation

    A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.

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DiseaseOntology: Ankylosing spondylitis

    Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999).

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OMIM: Ataxia-telangiectasia-like disorder

    An autoimmune disease is a condition that results from an anomalous response of the adaptive immune system, wherein it mistakenly targets and attacks healthy, functioning parts of the body as if they were foreign organisms. It is estimated that there are more than 80 recognized autoimmune diseases, with recent scientific evidence suggesting the existence of potentially more than 100 distinct conditions. Nearly any body part can be involved. Autoimmune diseases are a separate class from autoinflammatory diseases. Both are characterized by an immune system malfunction which may cause similar symptoms, such as rash, swelling, or fatigue, but the cardinal cause or mechanism of the diseases are different. A key difference is a malfunction of the innate immune system in autoinflammatory diseases, whereas in autoimmune diseases there is a malfunction of the adaptive immune system. Symptoms of autoimmune diseases can significantly vary, primarily based on the specific type of the disease and the body part that it affects. Symptoms are often diverse and can be fleeting, fluctuating from mild to severe, and typically comprise low-grade fever, fatigue, and general malaise. However, some autoimmune diseases may present with more specific symptoms such as joint pain, skin rashes (e.g., urticaria), or neurological symptoms. The exact causes of autoimmune diseases remain unclear and are likely multifactorial, involving both genetic and environmental influences. While some diseases like lupus exhibit familial aggregation, suggesting a genetic predisposition, other cases have been associated with infectious triggers or exposure to environmental factors, implying a complex interplay between genes and environment in their etiology. Some of the most common diseases that are generally categorized as autoimmune include celiac disease, type 1 diabetes, Graves' disease, inflammatory bowel diseases (such as Crohn's disease and ulcerative colitis), multiple sclerosis, alopecia areata, Addison's disease, pernicious anemia, psoriasis, rheumatoid arthritis, and systemic lupus erythematosus. Diagnosing autoimmune diseases can be challenging due to their diverse presentations and the transient nature of many symptoms. Treatment modalities for autoimmune diseases vary based on the type of disease and its severity. Therapeutic approaches primarily aim to manage symptoms, reduce immune system activity, and maintain the body's ability to fight diseases. Nonsteroidal anti-inflammatory drugs (NSAIDs) and immunosuppressants are commonly used to reduce inflammation and control the overactive immune response. In certain cases, intravenous immunoglobulin may be administered to regulate the immune system. Despite these treatments often leading to symptom improvement, they usually do not offer a cure and long-term management is often required. In terms of prevalence, a UK study found that 10% of the population were affected by an autoimmune disease. Women are more commonly affected than men. Autoimmune diseases predominantly begin in adulthood, although they can start at any age. The initial recognition of autoimmune diseases dates back to the early 1900s, and since then, advancements in understanding and management of these conditions have been substantial, though much more is needed to fully unravel their complex etiology and pathophysiology.

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Wiki: Autoimmune disease

    Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis. It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis. Normally, after infectious insult, the immune system down-regulates by increasing Fas expression on activated B and T lymphocytes and Fas-ligand on activated T lymphocytes. Fas and Fas-ligand interact to trigger the caspase cascade, leading to cell apoptosis. Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers.

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Wiki: Autoimmune lymphoproliferative syndrome

    A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.

Reference
DiseaseOntology: autosomal dominant familial periodic fever

    Severe combined immunodeficiency (SCID), also known as Swiss-type agammaglobulinemia, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Consequently, both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies, and there are now at least nine different known genes in which mutations lead to a form of SCID. It is also known as the bubble boy disease and bubble baby disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, have become famous for living in a sterile environment. SCID is the result of an immune system so highly compromised that it is considered almost absent. SCID patients are usually affected by severe bacterial, viral, or fungal infections early in life and often present with interstitial lung disease, chronic diarrhea, and failure to thrive. Ear infections, recurrent Pneumocystis jirovecii (previously carinii) pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within one year due to severe, recurrent infections unless they have undergone successful hematopoietic stem cell transplantation or gene therapy in clinical trials.

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Wiki: B-cell immunodeficiency

    Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency.

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Wiki: Bare lymphocyte syndrome

    An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.

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DiseaseOntology: Celiac disease

    Chilblain lupus erythematosus was initially described by Hutchinson in 1888 as an uncommon manifestation of chronic cutaneous lupus erythematosus. Chilblain lupus erythematosus is characterized by a rash that primarily affects acral surfaces that are frequently exposed to cold temperatures, such as the toes, fingers, ears, and nose. The rash is defined by oedematous skin, nodules, and tender plaques with a purple discoloration. Its pathogenetic factors include cold-induced vascular thrombosis, blood stasis, and impaired microcirculation. Chilblain lupus has been linked to anti-Ro antibodies.

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Wiki: Chilblain lupus

    Chronic granulomatous disease (CGD), also known as Bridges¨CGood syndrome, chronic granulomatous disorder, and Quie syndrome, is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. This leads to the formation of granulomas in many organs. CGD affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year. This condition was first discovered in 1950 in a series of four boys from Minnesota, and in 1957 it was named "a fatal granulomatosus of childhood" in a publication describing their disease. The underlying cellular mechanism that causes chronic granulomatous disease was discovered in 1967, and research since that time has further elucidated the molecular mechanisms underlying the disease. Bernard Babior made key contributions in linking the defect of superoxide production of white blood cells, to the cause of the disease. In 1986, the X-linked form of CGD was the first disease for which positional cloning was used to identify the underlying genetic mutation.

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Wiki: Chronic granulomatous disease

    Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin 1¦Â-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome (FCAS, formerly termed familial cold-induced urticaria), the Muckle¨CWells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and articular syndrome or CINCA) that were originally thought to be distinct entities, but in fact share a single genetic mutation and pathogenic pathway, and keratoendotheliitis fugax hereditaria in which the autoinflammatory symptoms affect only the anterior segment of the eye.

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Wiki: Cryopyrin associated periodic syndrome

    A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells.

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DiseaseOntology: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

    Evans syndrome is an autoimmune disease in which an individual's immune system attacks their own red blood cells and platelets, the syndrome can include immune neutropenia. These immune cytopenias may occur simultaneously or sequentially. Its overall phenotype resembles a combination of autoimmune hemolytic anemia and immune thrombocytopenic purpura. Autoimmune hemolytic anemia is a condition in which the red blood cells that normally carry oxygen are destroyed by an autoimmune process. Immune thrombocytopenic purpura is a condition in which platelets are destroyed by an autoimmune process. Platelets are a component of blood that contribute to the formation of blood clots in the body to prevent bleeding. The syndrome was first described in 1951 by R. S. Evans and colleagues.

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Wiki: Evans syndrome

    Experimental autoimmune encephalomyelitis, sometimes experimental allergic encephalomyelitis (EAE), is an animal model of brain inflammation. It is an inflammatory demyelinating disease of the central nervous system (CNS). It is mostly used with rodents and is widely studied as an animal model of the human CNS demyelinating diseases, including multiple sclerosis (MS) and acute disseminated encephalomyelitis (ADEM). EAE is also the prototype for T-cell-mediated autoimmune disease in general.

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Wiki: Experimental autoimmune encephalomyelitis

    Cold urticaria (essentially meaning cold hives) is a disorder in which large red welts called hives (urticaria) form on the skin after exposure to a cold stimulus. The hives are usually itchy and often the hands and feet will become itchy and swollen as well. Hives vary in size from about 7 mm in diameter to as big as about 27 mm or larger. This disorder, or perhaps two disorders with the same clinical manifestations, can be inherited (familial cold urticaria) or acquired (primary acquired cold urticaria). The acquired form is most likely to begin between ages 18 and 25, although it can occur as early as 5 years old in some cases. Life-threatening risks include suffocation resulting from swollen tissue (pharyngeal angioedema) induced by cold foods or beverages, drowning after shock from swimming in cold water, and anaphylactic shock.

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Wiki: Familial cold autoinflammatory syndrome

    An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.

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DiseaseOntology: familial mediterranean fever

    An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.

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DiseaseOntology: Graft-versus-host disease

    A granuloma is an aggregation of macrophages (along with other cells) that forms in response to chronic inflammation. This occurs when the immune system attempts to isolate foreign substances that it is otherwise unable to eliminate. Such substances include infectious organisms including bacteria and fungi, as well as other materials such as foreign objects, keratin, and suture fragments.

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Wiki: Granulomatous disease

    In hematology, hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. There are inherited and non-inherited (acquired) causes of HLH.

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Wiki: Hemophagocytic lymphohistiocytosis

    A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.

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DiseaseOntology: Histiocytosis-lymphadenopathy plus syndrome

    A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.

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DiseaseOntology: hyper IgE syndrome

    Hyper-IgE syndrome-1 with recurrent infections (HIES1) is an autosomal dominant immunologic disorder characterized by chronic eczema (atopy), recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Other more variable immunologic abnormalities include defective granulocyte chemotaxis, abnormalities in T-lymphocyte subgroups, impaired antibody production, and decreased production of or response to certain cytokines. Importantly, the same immune system defects are not found in all patients. Some patients may have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

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OMIM: Hyper-IgE recurrent infection syndrome

    Hyper-IgE syndrome-1 with recurrent infections (HIES1) is an autosomal dominant immunologic disorder characterized by chronic eczema (atopy), recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Other more variable immunologic abnormalities include defective granulocyte chemotaxis, abnormalities in T-lymphocyte subgroups, impaired antibody production, and decreased production of or response to certain cytokines. Importantly, the same immune system defects are not found in all patients. Some patients may have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

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OMIM: Hyperimmunoglobulin e recurrent infection syndrome

    Omalizumab, sold under the brand name Xolair, is an injectable medication to treat severe persistent allergic forms of asthma, nasal polyps, urticaria (hives), and immunoglobulin E-mediated food allergy. Omalizumab is a recombinant DNA-derived humanized IgG1 monoclonal antibody which specifically binds to free human immunoglobulin E (IgE) in the blood and interstitial fluid and to the membrane-bound form of IgE (mIgE) on the surface of mIgE-expressing B lymphocytes. Its primary adverse effect is anaphylaxis. In 1987 Tanox filed its first patent application on the anti-IgE drug candidates. It took until 2003, in the United States until omalizumab was approved, in Europe until 2005 for moderate to severe persistent asthma, severe chronic rhinosinusitis with nasal polyps. In February 2024, the FDA approved it also to treat severe food allergy.

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Wiki: Ige responsiveness

    Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition. Immunocompromisation may also be due to genetic diseases/flaws such as SCID. In clinical settings, immunosuppression by some drugs, such as steroids, can either be an adverse effect or the intended purpose of the treatment. Examples of such use is in organ transplant surgery as an anti-rejection measure and in patients with an overactive immune system, as in autoimmune diseases. Some people are born with intrinsic defects in their immune system, or primary immunodeficiency. A person who has an immunodeficiency of any kind is said to be immunocompromised. An immunocompromised individual may particularly be vulnerable to opportunistic infections, in addition to normal infections that could affect anyone. It also decreases cancer immunosurveillance, in which the immune system scans the body's cells and kills neoplastic ones. They are also more susceptible to infectious diseases owing to the reduced protection afforded by vaccines.

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Wiki: Immunodeficiency

    Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition.[1] Immunocompromisation may also be due to genetic diseases/flaws such as SCID.

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Wiki: Inherited immunodeficiency diseases

    Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized swelling caused by a compromised lymphatic system. The lymphatic system functions as a critical portion of the body's immune system and returns interstitial fluid to the bloodstream. Lymphedema is most frequently a complication of cancer treatment or parasitic infections, but it can also be seen in a number of genetic disorders. Though incurable and progressive, a number of treatments may improve symptoms. Tissues with lymphedema are at high risk of infection because the lymphatic system has been compromised. While there is no cure, treatment may improve outcomes. This commonly includes compression therapy, good skin care, exercise, and manual lymphatic drainage (MLD), which together are known as combined decongestive therapy. Diuretics are not useful.

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Wiki: Lymphedema

    Diffuse large B-cell lymphoma (DLBCL) is a cancer of B cells, a type of lymphocyte that is responsible for producing antibodies. It is the most common form of non-Hodgkin lymphoma among adults,[1] with an annual incidence of 7¨C8 cases per 100,000 people per year in the US and UK.[2][3] This cancer occurs primarily in older individuals, with a median age of diagnosis at ~70 years,[3] although it can occur in young adults and, in rare cases, children.[4] DLBCL can arise in virtually any part of the body and, depending on various factors, is often a very aggressive malignancy.[5] The first sign of this illness is typically the observation of a rapidly growing mass or tissue infiltration that is sometimes associated with systemic B symptoms, e.g. fever, weight loss, and night sweats.[6]

Reference
Wiki: Lymphoid neoplasm diffuse large B-cell lymphoma

    Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis. It is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis. Normally, after infectious insult, the immune system down-regulates by increasing Fas expression on activated B and T lymphocytes and Fas-ligand on activated T lymphocytes. Fas and Fas-ligand interact to trigger the caspase cascade, leading to cell apoptosis. Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers.

Reference
Wiki: Lymphoproliferative syndrome

    A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.

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DiseaseOntology: Omenn syndrome

    Polyarthritis is any type of arthritis that involves 5 or more joints simultaneously. It can be associated with autoimmune conditions; it may be experienced at any age and is not sex specific.[1]

Reference
Wiki: Polyarthritis

    Autoinflammatory diseases (AIDs) are a group of rare disorders caused by dysfunction of the innate immune system. These responses are characterized by periodic or chronic systemic inflammation, usually without the involvement of adaptive immunity. Autoinflammatory diseases are a separate class from autoimmune diseases; however, both are characterized by an immune system malfunction that may cause similar symptoms, such as rash, swelling, or fatigue. However, the main source of the diseases are different. A key difference between the two classes of diseases is that while AIDs triggers a malfunction of the innate immune system, autoimmune diseases trigger a malfunction of the adaptive immune system. The boundaries between autoinflammation (overactivity of the innate immunity), autoimmunity (overactivity of the adaptive immunity), and immunodeficiency (decreased activity of the innate or adaptive immunity) are often fluid. Clinical phenotypes associated with these processes are driven by the cell type most affected by a particular mutation or signal. Excessive activation of neutrophils, monocytes/macrophages, and dendritic cells leads to auto-inflammatory symptoms, while T cell and B cell dysfunction leads to autoimmunity. Failure of innate and/or adaptive immune cells to appropriately activate, recognize, and clear infectious agents causes immunodeficiency and vulnerability to infection.

Reference
Wiki: Proteasome-associated autoinflammatory syndrome

    Reticular dysgenesis (RD) is a rare, inherited autosomal recessive disease that results in immunodeficiency. Individuals with RD have mutations in both copies of the AK2 gene. Mutations in this gene lead to absence of AK2 protein. AK2 protein allows hematopoietic stem cells to differentiate and proliferate. Hematopoietic stem cells give rise to blood cells. Differentiation and proliferation of hematopoietic stem cells require a lot of energy and this energy is supplied by the mitochondria. The energy metabolism of mitochondria is regulated by the AK2 protein. If there is a mutation in the protein, that means that the mitochondria metabolism most likely will be altered and will not be able to provide enough energy to the hematopoietic stem cells. As a result, hematopoietic stem cells will not be able to differentiate or proliferate. The immune system consists of specialized cells that work together to fight off bacteria, fungi and viruses. These cells include T lymphocytes (T cells), that primarily mediate the immune system, B lymphocytes (B cells) and Natural Killer cells. Patients with RD have a genetic defect that affects the T cells and at least one other type of immune cell. Since more than one type of immune cell is affected, this disease is classified as a severe combined immunodeficiency disease (SCID). A weakened immune system leaves patients susceptible to different kinds of infection. Commonly, patients who are diagnosed with RD also have bacterial sepsis and/or pneumonia. The annual incidence has been estimated at 1/3,000,000-1/5,000,000 and both females and males are affected.

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Wiki: Reticular dysgenesis

    An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.

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DiseaseOntology: Rheumatoid arthritis

    RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and Learning difficulties.

Reference
Wiki: Riddle syndrome

    Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. The disease can be either localized to the skin or involve other organs, as well. Symptoms may include areas of thickened skin, stiffness, feeling tired, and poor blood flow to the fingers or toes with cold exposure. One form of the condition, known as CREST syndrome, classically results in calcium deposits, Raynaud's syndrome, esophageal problems, thickening of the skin of the fingers and toes, and areas of small, dilated blood vessels. The cause is unknown, but it may be due to an abnormal immune response. Risk factors include family history, certain genetic factors, and exposure to silica. The underlying mechanism involves the abnormal growth of connective tissue, which is believed to be the result of the immune system attacking healthy tissues. Diagnosis is based on symptoms, supported by a skin biopsy or blood tests. While no cure is known, treatment may improve symptoms. Medications used include corticosteroids, methotrexate, and non-steroidal anti-inflammatory drugs (NSAIDs). Outcome depends on the extent of disease. Those with localized disease generally have a normal life expectancy. In those with systemic disease, life expectancy can be affected, and this varies based on subtype. Death is often due to lung, gastrointestinal, or heart complications. About three per 100,000 people per year develop the systemic form. The condition most often begins in middle age. Women are more often affected than men. Scleroderma symptoms were first described in 1753 by Carlo Curzio and then well documented in 1842. The term is from the Greek skleros meaning "hard" and derma meaning "skin".

Reference
Wiki: Scleroderma

    In hematology, hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome,[1] is an uncommon hematologic disorder seen more often in children than in adults. It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. There are inherited and non-inherited (acquired) causes of HLH.

Reference
Wiki: Secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome

    A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.

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DiseaseOntology: Severe combined immunodeficiency

    A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.

Reference
DiseaseOntology: Sjogren-larsson syndrome

    Lupus, technically known as systemic lupus erythematosus (SLE), is an autoimmune disease in which the body's immune system mistakenly attacks healthy tissue in many parts of the body. Symptoms vary among people and may be mild to severe. Common symptoms include painful and swollen joints, fever, chest pain, hair loss, mouth ulcers, swollen lymph nodes, feeling tired, and a red rash which is most commonly on the face. Often there are periods of illness, called flares, and periods of remission during which there are few symptoms. The cause of SLE is not clear. It is thought to involve a combination of genetics and environmental factors. Among identical twins, if one is affected there is a 24% chance the other one will also develop the disease. Female sex hormones, sunlight, smoking, vitamin D deficiency, and certain infections are also believed to increase a person's risk. The mechanism involves an immune response by autoantibodies against a person's own tissues. These are most commonly anti-nuclear antibodies and they result in inflammation. Diagnosis can be difficult and is based on a combination of symptoms and laboratory tests. There are a number of other kinds of lupus erythematosus including discoid lupus erythematosus, neonatal lupus, and subacute cutaneous lupus erythematosus. There is no cure for SLE, but there are experimental and symptomatic treatments. Treatments may include NSAIDs, corticosteroids, immunosuppressants, hydroxychloroquine, and methotrexate. Although corticosteroids are rapidly effective, long-term use results in side effects. Alternative medicine has not been shown to affect the disease. Men have higher mortality. SLE significantly increases the risk of cardiovascular disease, with this being the most common cause of death. While women with lupus have higher risk pregnancies, most are successful. Rate of SLE varies between countries from 20 to 70 per 100,000. Women of childbearing age are affected about nine times more often than men. While it most commonly begins between the ages of 15 and 45, a wide range of ages can be affected. Those of African, Caribbean, and Chinese descent are at higher risk than those of European descent. Rates of disease in the developing world are unclear. Lupus is Latin for "wolf": the disease was so-named in the 13th century as the rash was thought to appear like a wolf's bite.

Reference
Wiki: Systemic lupus erythematosus

    Systemic mastocytosis involves the bone marrow in the majority of cases and in some cases other internal organs, usually in addition to involving the skin. Mast cells collect in various tissues and can affect organs where mast cells do not normally inhabit such as the liver, spleen and lymph nodes, and organs which have normal populations but where numbers are increased. In the bowel, it may manifest as mastocytic enterocolitis.[15] However, normal ranges for mast cell counts in the gastrointestinal tract mucosa are not well established in the literature, and depend upon the exact location (e.g. right versus left colon), gender, and patient populations (such as asymptomatic patients versus patients with chronic diarrhea of unknown etiology). Quantitative mast cell stains may yield little diagnostic information, and further research studies are warranted to determine whether "mastocytic enterocolitis" truly represents a distinct entity.

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Wiki: Systemic mastocytosis

    A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.

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DiseaseOntology: Systemic scleroderma

    A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.

Reference
DiseaseOntology: T-cell immunodeficiency

    Wiskott¨CAldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present with similar but less severe symptoms and are caused by mutations of the same gene.

Reference
Wiki: Wiskott-Aldrich syndrome

    X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells.

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Wiki: X-linked combined immunodeficiency

    X-linked lymphoproliferative disease (also known as Duncan disease:?86? or Purtilo syndrome and abbreviated as XLP) is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients. There are two currently known variations of the disorder, known as XLP1 (XLP Type 1) and XLP2. XLP1 is estimated to occur in approximately one in every million males, while XLP2 is rarer, estimated to occur in one of every five million males. Due to therapies such as chemotherapy and stem cell transplants, the survival rate of XLP1 has increased dramatically since its discovery in the 1970s.

Reference
Wiki: X-linked lymphoproliferative syndrome