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constitutional neutropaenia is a granulocyte disorder characterised by an abnormally low number of neutrophils. neutrophils usually make up 50-70% of circulating white blood cells and serve as the primary defence against infections by destroying bacteria in the blood.

severe congenital neutropaenia is an immunodeficiency characterised by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit. this neutropaenia leads to repeated bacterial or mycotic infections in various locations, mostly cutaneo-mucous, ear, nose, and throat, and pulmonary.

dursun syndrome is a genetic disorder characterised by familial pulmonary arterial hypertension, cardiac abnormalities including atrial septal defect, leukopenia including intermittent neutropaenia, lymphopenia, monocytosis, and anaemia.

x-linked severe congenital neutropaenia is an immunodeficiency syndrome characterised by recurrent major bacterial infections, severe congenital neutropaenia, and monocytopaenia.

constitutional neutropaenia with extra-haematopoietic manifestations this is a granulocyte disorder characterised by an abnormally low number of neutrophils. neutrophils usually make up 50-70% of circulating white blood cells and serve as the primary defence against infections by destroying bacteria in the blood. this diagnosis is with extra-haematopoietic manifestations.

cohen syndrome is a genetic syndrome characterised by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet.

hermansky-pudlak syndrome with neutropaenia hps type 2, which is due to mutations in ap3b1 gene and presents with neutropaenia as well as the other characteristic features of hps.

neutropaenia - monocytopaenia - deafness syndrome is characterised by neutropaenia with myeloid marrow hypoplasia, monocytopaenia, and congenital deafness.

primary immunodeficiency syndrome due to p14 deficiency is a primary immune deficiency characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary streptococcus pneumoniae infections.

shwachman-diamond syndrome is defined by the association of a central haematological defect (neutropaenia, thrombocytopenia and anaemia that may progress to bone marrow aplasia), with a malformation syndrome and lipomatosis of the pancreas resulting in external pancreatic insufficiency.

barth syndrome is an inborn error of phospholipid metabolism characterised by dilated cardiomyopathy (dcm), skeletal myopathy, neutropaenia, growth delay and organic aciduria.

glycogen storage disease due to glucose-6-phosphate transport defect glycogenosis due to glucose-6-phosphatase deficiency (g6p) type a, or glycogen storage disease (gsd) type 1a, is a type of glycogenosis due to g6p deficiency that may manifest at birth by enlarged liver or, more commonly, between the ages of three to four months by symptoms of fast-induced hypoglycaemia (tremors, seizures, cyanosis, and apnoea) as a result of disturbed glucose homeostasis .

onycho-tricho-dysplasia – neutropaenia syndrome onychotrichodysplasia - neutropaenia (onmr syndrome) is a form of trichothiodystrophy (sulphur-deficient brittle hair) characterised by hypoplastic fingernails, trichorrhexis, chronic neutropaenia, and mild psychomotor retardation.

chronic granulomatous disease is a primary immune deficiency marked by failure to destroy bacteria and fungi phagocytosed by neutrophils and macrophages.

leukocyte adhesion deficiency (lad) is a primary immunodeficiency characterised by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.

leukocyte adhesion deficiency type 1 leukocyte adhesion deficiency type i (lad-i) is a primary immune deficiency that belongs to the group of leukocyte adhesion deficiencies characterised by life-threatening, recurrent bacterial infections.

leukocyte adhesion deficiency type 3 leukocyte adhesion deficiency type iii (lad-iii) is a form of leukocyte adhesion deficiency characterised by both severe bacterial infections and a severe bleeding disorder.

leukocyte adhesion deficiency type 2 leukocyte adhesion deficiency type ii (lad-ii) is a primary immune deficiency that belongs to the group of leukocyte adhesion deficiencies characterised by recurrent bacterial infections, severe growth delay and severe intellectual deficit.

myeloperoxidase deficiency this is a common genetic disorder featuring deficiency, either in quantity or function, of myeloperoxidase, an enzyme found in certain phagocytic immune cells, especially polymorphonuclear leukocytes.

neutrophil immunodeficiency syndrome is a primary immunodeficiency characterised by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.

recurrent infection due to specific granule deficiency this refers to recurrent infection due to the deficiency of secretory vesicles found exclusively in cells of the immune system called granulocytes.

haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most common hereditary erythrocyte enzyme deficiency that can manifest with severe neonatal jaundice which can lead to serious neurological consequences, or, most often, with acute haemolytic anaemia following ingestion of certain foods (fava beans), common drugs (some antimalaria drugs, sulphamides, analgesics), or in the course of an infection, in otherwise asymptomatic individuals.

papillon-lefèvre syndrome (pls) is a rare autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset of destructive periodontitis leading to premature loss of both primary and permanent dentitions.

complement component c4 deficiency this gene encodes the basic form of complement factor 4, part of the classical activation pathway. deficiency of this protein is associated with systemic lupus erythematosus.

complement component c6 deficiency complement component 6 is a protein involved in the complement system. it is part of the membrane attack complex which can insert into the cell membrane and cause cell to lyse. people with c6 deficiency are prone to bacterial infection.

complement component c7 deficiency complement component 7 deficiency (c7d)is a protein involved in the complement system, where its primary task is to bind the c5bc6 complex together. c7d is a rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by neisseria gonorrhoeae or neisseria meningitidis

complement component c8 deficiency this is a protein involved in the complement system. a hereditary deficiency of c8 can result in increased susceptibility to neisseria infections, such as meningitis and gonorrhoea.

complement component c9 deficiency this is a protein involved in the complement system. it is a member of the membrane attack complex (mac) and induces pores on membranes.

recurrent neisseria infections due to factor d deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to neisseria bacterial infections, resulting from complement factor d deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor d plasma concentrations.

complement component c4b-binding protein deficiency this refers to the deficiency of a large glycoprotein (500 kda) with an estimated plasma concentration of 200 mg/l synthesized mainly in the liver.

immunodeficiency with cd46 deficiency deficiency of cd46 is a predisposing factor for numerous disease conditions arising from complement-mediated ‘self-attack’. mutations in human complement regulator, membrane cofactor protein (cd46), predispose to development of familial haemolytic uremic syndrome.

immunodeficiency with factor d anomaly factor d deficiency is an autosomal recessive immunologic disorder characterised by increased susceptibility to bacterial infections, particularly neisseria infections, due to a defect in the alternative complement pathway.

immunodeficiency with decay accelerating factor deficiency this is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with decay accelerating factor deficiency.

immunodeficiency with factor h anomaly this is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with factor h anomaly.

immunodeficiency with factor i anomaly this is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with factor i anomaly.

immunodeficiency with properdin deficiency this is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with properdin deficiency.

immunodeficiency with cd59 deficiency this is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with cd59 deficiency.

immunodeficiency with masp-2 deficiency this is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with masp-2 deficiency.

immunodeficiency with mbl - [mannan-binding lectin] deficiency this is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with mbl deficiency.

angioedema due to disordered complement activation or kinin metabolism is described as angioedema resulting from disturbances in kinin metabolism due to low absolute or functional levels of c1 inhibitor, increased kinin production or inhibition of kinin breakdown.

hereditary angioedema is caused in the majority of cases by genetically determined low absolute (type i) or functional (type ii) levels of c1 inhibitor, a plasma proteinase inhibitor involved in regulation of complement activation. it is characterised clinically by recurrent subcutaneous and/or submucosal oedema and can result in life-threatening laryngeal obstruction. involvement of the digestive tract commonly causes abdominal pain. this and the absence of accompanying urticarial weals or itch distinguish it from the common form of angioedema, which is part of the spectrum of urticaria.

hereditary angioedema type i hereditary angioedema associated with gene mutations resulting in reduced production of c1 inhibitor.

hereditary angioedema type ii hereditary angioedema associated with gene mutations resulting in functionally defective c1 inhibitor.

hereditary angioedema type iii hereditary angioedema due not to abnormalities of c1 inhibitor production or function but to increased kininogenase activity and consequent increased bradykinin release. it may be triggered by pregnancy or oestrogen-containing oral contraceptive preparations.

acquired angioedema is clinically similar to hereditary angioedema and is not associated with urticaria. it may be associated with a lymphoproliferative disorder (type i) or may be an isolated phenomenon due to an autoantibody directed against c1 inhibitor (type ii).

acquired angioedema type i is described as an acquired disorder which resembles hereditary angioedema but is associated with an underlying disorder, in the majority of cases lymphoproliferative.

acquired angioedema type ii is described as an acquired autoimmune disorder which resembles hereditary angioedema but is due to antibodies directed against c1 inhibitor (c1-inh).

angioedema due to angiotensin converting enzyme inhibitors is described as angioedema resulting from inhibition of metabolic breakdown of bradykinin and other mediators. it occurs in up to 1% of patients given angiotensin i receptor antagonists but does also less frequently occur with angiotensin ii antagonists.

autoinflammatory disease due to interleukin-1 receptor antagonist deficiency dira is a monogenic autoinflammatory disease associated with mutations in the gene coding for il1 receptor antagonist.

majeed syndrome is an autoinflammatory syndrome characterised by chronic recurrent multifocal osteomyelitis (crmo), congenital dyserythropoietic anaemia (cda) and inflammatory dermatosis.

periodic fever - aphthous stomatitis - pharyngitis - adenopathy pfapa is an autoinflammatory disease associated with classical clinical signs associated to a systemic inflammation. flares with high fever are alternating with totally asymptomatic periods.

idiopathic cd4 lymphocytopenia this is a very rare medical syndrome in which the body has too few cd4+ t lymphocytes, which are a kind of white blood cell. icl is sometimes characterised as "hiv-negative aids" by aids denialists, though in fact its clinical presentation differs from that seen with hiv/aids.

immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency interleukin-1 receptor-associated kinase-4 (irak-4) deficiency is a primary immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.

lung fibrosis - immunodeficiency - gonadal dysgenesis lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis.

mendelian susceptibility to mycobacterial diseases this is known as familial disseminated atypical mycobacterial infection and can be caused by defects in ifngr2.

autosomal recessive mendelian susceptibility to mycobacterial diseases this refers to the autosomal recessive illness caused by abnormalities in genes or chromosomes, with susceptibility to mycobacterial diseases.

complete autosomal recessive interferon-gamma receptor 1 deficiency ifngr1 encodes the ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor, which is found on macrophages, with deficiency.

partial autosomal recessive interferon-gamma receptor 1 deficiency this refers to a partial autosomal recessive gene which encodes the ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor, which is found on macrophages.

complete autosomal recessive interferon-gamma receptor 2 deficiency ifngr2 encodes the non-ligand-binding partner of the heterodimeric receptor, with deficiency.

partial autosomal recessive interferon-gamma receptor 2 deficiency this refers to a partial autosomal recessive gene which is a receptor which binds interferon-γ, the sole member of interferon type ii.

autosomal recessive interleukin 12 receptor beta-1 chain deficiency this is the autosomal recessive deficiency of a group of cytokines (secreted proteins/signalling molecules) that were first seen to be expressed by white blood cells (leukocytes).

autosomal recessive interleukin 12p40 deficiency this is the autosomal recessive deficiency of a group of cytokines (secreted proteins/signalling molecules) that were first seen to be expressed by white blood cells (leukocytes).

autosomal recessive tyrosine kinase 2 deficiency this is a deficiency autosomal recessive gene which encodes a member of the tyrosine kinase and, to be more specific, the janus kinases (jaks) protein families.

autosomal dominant mendelian susceptibility to mycobacterial diseases this refers to the autosomal dominant illness caused by abnormalities in genes or chromosomes, with susceptibility to mycobacterial diseases.

autosomal dominant interferon-gamma receptor 1 deficiency this refers to the autosomal ifngr1 which encodes the ligand-binding chain (alpha) of the heterodimeric gamma interferon receptor, which is found on macrophages. ifngr2 encodes the non-ligand-binding partner of the heterodimeric receptor.

autosomal dominant stat1 deficiency mendelian susceptibility to mycobacterial diseases (msmd) due to partial stat1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of msmd characterised by a partial defect in the interferon (ifn)-gamma pathway, leading to mild mycobacterial infections.

pyogenic bacterial infections due to myd88 deficiency is a primary immunodeficiency characterised by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

encephalitis due to herpes simplex virus herpetic encephalitis is a cerebral infection caused by herpes simplex virus type 1 (hsv1). it presents as acute necrosing temporal encephalitis. onset is rapid (less than 48 hours) with a fever of 40 °c, headaches, and behavioural, language and memory problems. these initial manifestations are followed by numbness and coma, which may be accompanied by convulsions and paralysis. this disease, which affects only a small minority of hsv1-infected individuals, results from a primary immune deficiency.

encephalitis due to herpes simplex type 1 is described as an inflammatory process of the brain, frequently with evidence of meningeal involvement, due to infection by herpes simplex type 1 virus. the clinical manifestations are usually acute, but may be subacute, with fever and variable combinations of convulsions, impaired mental state, and focal deficits. there is frequently preferential involvement of the temporal and frontal lobes. the spinal fluid may show a cellular reaction and elevated protein. diagnosis is by neuroimaging, spinal fluid analysis and culture, pcr, and serologic tests.

encephalitis due to herpes simplex type 2 is described as an inflammatory process of the brain, frequently with evidence of meningeal involvement, due to infection by herpes simplex type 2 virus. the clinical manifestations are usually acute, but may be subacute, with fever and variable combinations of convulsions, impaired mental state, and focal deficits. the spinal fluid may show a cellular reaction and elevated protein. diagnosis is by neuroimaging, spinal fluid analysis and culture, pcr, and serologic tests.

chronic mucocutaneous candidosis chronic mucocutaneous candidiasis is a primary immune deficiency characterised by persistent and/or recurrent infections of skin, nails and mucous membranes, caused by organisms of the genus candida, mainly c. albicans.

ol-eda-id syndrome is described as anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphoedema syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia.

whim - [warts-hypogammaglobulinaemia-infections-myelokathexis] syndrome whim syndrome is the acronym for warts, hypogammaglobulinemia, infections, myelokathexis. it is a genetic syndrome with dominant autosomal inheritance characterised by chronic neutropaenia associated with bone marrow hypercellularity (myelokathexis).

epidermodysplasia verruciformis (ev) is a rare inherited genodermatosis characterised by chronic infection with human papillomavirus (hpv) leading to polymorphous cutaneous lesions and high risk of developing non-melanoma skin cancer.

eda-id syndrome hypohidrotic ectodermal dysplasia with immunodeficiency is characterised by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.

immunodeficiencies with predominantly antibody defects is described as a disorder characterised by an inability to mount a normal immune response due to antibody (i.e. immunoglobulin) defects

hereditary agammaglobulinaemia with profoundly reduced or absent b cells this refers to a hereditary type of primary immune deficiency disease characterised by a reduction in all types of gamma globulins, and rare x-linked genetic disorder that affects the body's ability to fight infection.

autosomal recessive agammaglobulinaemia is described as autosomal agammaglobulinemia is a primary immune deficiency characterised by a complete lack of circulating mature b cells, resulting in agammaglobulinemia leading to particular susceptibility to bacterial infections of the respiratory and digestive tracts. enteroviral meningo-encephalitis is a very severe and not infrequent complication.

x-linked agammaglobulinaemia x-linked agammaglobulinemia is an x-linked recessive inherited disease marked by recurrent bacterial infections in the airways and gi tract. it also predisposes affected individuals to chronic enterovirus infections. it occurs with a prevalence of approximately 1:200,000. the disease is caused by the deficient production of immunoglobulin as a result of mutations in the gene coding for bruton's tyrosine kinase (btk) and is characterised by impaired maturation of b lymphocytes. patients are treated with regular venous or subcutaneous injections of immunoglobulin.

syndromic agammaglobulinaemia this is a rare x-linked genetic disorder discovered in 1952 that affects the body's ability to fight infection. xla is an x-linked disorder, and therefore is much more common in males. xla patients do not generate mature b cells, which manifests as a complete lack of antibodies in their bloodstream.

agammaglobulinaemia - microcephaly - craniosynostosis - severe dermatitis this syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. it has been described in three siblings, two males and one female, born to nonconsanguineous parents. transmission is probably autosomal recessive. it has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early b-cell maturation.

immunodeficiency - centromeric region instability - facial anomalies syndrome involves the immunodeficiency, centromeric region instability, facial anomalies syndrome (icf) is a rare autosomal recessive primary immune deficiency characterised by immunodeficiency, although b cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. other variable symptoms include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation.

malignant myelodysplasia with hypogammaglobulinaemia involves these are a diverse collection of haematological (blood-related) medical conditions that involve ineffective production (or dysplasia) of the myeloid class of blood cells. this diagnosis is with a type of primary immune deficiency disease characterised by a reduction in all types of gamma globulins.

short stature due to growth hormone isolated deficiency with x-linked hypogammaglobulinaemia this refers to a height of a human being which is below expected due to growth hormone isolated deficiency with a rare x-linked genetic disorder discovered in 1952 that affects the body's ability to fight infection.

immunodeficiencies with severe reduction in at least two serum immunoglobulin isotypes with normal or low numbers of b cells this refers to a nonfamilial type of primary immune deficiency disease characterised by a reduction in at least two serum immunoglobulin isotypes. circulating b cells may be normal or low.

immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterised by normal immunoglobulin levels (including igg sub-classes) but impaired polysaccharide responsiveness (ipr). this syndrome is a rare primary immunodeficiency characterised by recurrent bacterial infections, mostly of the respiratory tract. the offending bacteria are those with a polysaccharide capsule, such as pneumococci, hemophilus influenzae, meningococci and group b streptococci.

recurrent infections associated with immunoglobulin isotypes deficiency deficiencies in immunoglobulin (ig) isotypes (including: isolated igg subclass deficiency, igg subclass deficiency with iga deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterised by recurrent, often pyogenic, sinopulmonary infections.

k chain deficiency is described as a condition of the immune system, caused by a decreased concentration of kappa light chains resulting from a mutation in the igkc gene located on chromosome 2p11. this condition may present with recurrent respiratory infections, diarrhoea, or may be asymptomatic. confirmation is by genetic testing.

selective deficiency of immunoglobulin g subclasses this refers to a selective deficiency of a protein complex composed of four peptide chains — two identical heavy chains and two identical light chains arranged in a y-shape typical of antibody monomers.

activation-induced cytidine deaminase deficiency this is a rare disease with the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centres.

hyper-igm syndrome due to uracil n glycosylase this has been characterised in three patients from france and japan. the symptoms are similar to hyper igm syndrome type 2, but the aicda gene is intact.

hyper-igm syndrome due to cd40 deficiency this is a form of hyper igm syndrome characterised by mutations of the cd40 gene. in this type, b cells cannot receive the signal from t cells to switch classes.

common variable immunodeficiency (cvid) comprises a heterogeneous group of diseases characterised by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

low birth weight - dwarfism - dysgammaglobulinaemia this syndrome is characterised by low birth weight, dwarfism, psychomotor retardation, elevated serum iga levels and recurrent bacterial infections. congenital abnormalities include hyperextensible joints, brachydactyly, clinodactyly, low ridge counts with a simian crease, and foot deformities. the syndrome has been described in only one family: in two sisters born to normal nonconsanguineous parents. the mode of transmission is most likely autosomal recessive.

microcephaly - hypogammaglobulinaemia - abnormal immunity say-barber-miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. it has been reported in two brothers born to normal parents. additional features include hypogonadism, flexion contractures, hypoplastic patellae, scoliosis, eczema and recurrent infections. the characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy. the hypogammaglobulinaemia improved with age but the defective chemotaxis and recurrent infections persisted.

combined immunodeficiency due to orai1 deficiency combined immunodeficiency (cid) due to orai1 deficiency is a form of cid due to calcium release activated ca2+ (crac) channel dysfunction. it is characterised by recurrent infections, congenital myopathy, ectodermal dysplasia and anhidrosis.

combined immunodeficiency due to stim1 deficiency combined immunodeficiency (cid) due to stim1 deficiency is a form of cid due to calcium release activated ca2+(crac) channel dysfunction. it is characterised by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

severe combined immunodeficiencies severe combined immunodeficiency (scid) comprises a group of rare monogenic primary immunodeficiency disorders characterised by a lack of functional peripheral t lymphocytes resulting in early-onset severe respiratory infections and failure to thrive.

severe combined immunodeficiency with reticular dysgenesis reticular dysgenesis is the most severe form of severe combined immunodeficiency (scid) and is characterised by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicaemia within days after birth if not treated.

severe combined immunodeficiency with low t- and b-cell numbers this is a genetic disorder in which 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 a severe form of heritable immunodeficiency. this diagnosis is with low t- and b- cell numbers.