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363138005: Hereditary disorder of immune system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482275013 Hereditary disorder of immune system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754928016 Hereditary disorder of immune system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
85501000077116 troubles héréditaires du système immunitaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

216 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of immune system Is a Disorder of immune system false Inferred relationship Some
Hereditary disorder of immune system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of immune system Finding site Structure of immune system (body structure) false Inferred relationship Some
Hereditary disorder of immune system Is a Disorder of immune function (disorder) true Inferred relationship Some
Hereditary disorder of immune system Finding site Body system structure true Inferred relationship Some 1
Hereditary disorder of immune system Has definitional manifestation Immune system finding false Inferred relationship Some
Hereditary disorder of immune system Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Chédiak-Higashi syndrome Is a False Hereditary disorder of immune system Inferred relationship Some
Chronic granulomatous disease Is a False Hereditary disorder of immune system Inferred relationship Some
Hereditary lymphedema Is a False Hereditary disorder of immune system Inferred relationship Some
Acquired epidermolysis bullosa Is a False Hereditary disorder of immune system Inferred relationship Some
Wiskott-Aldrich syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Hypopigmentation-immunodeficiency disease Is a False Hereditary disorder of immune system Inferred relationship Some
Familial C3B inhibitor deficiency syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
maladie de Hand-Schüller-Christian Is a False Hereditary disorder of immune system Inferred relationship Some
Adenosine deaminase deficiency Is a False Hereditary disorder of immune system Inferred relationship Some
Purine-nucleoside phosphorylase deficiency Is a False Hereditary disorder of immune system Inferred relationship Some
X-linked agammaglobulinemia Is a True Hereditary disorder of immune system Inferred relationship Some
X-linked lymphoproliferative syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Storage disease of the lung Is a False Hereditary disorder of immune system Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a False Hereditary disorder of immune system Inferred relationship Some
Autosomal recessive severe combined immunodeficiency disease (disorder) Is a False Hereditary disorder of immune system Inferred relationship Some
Complement component deficiency Is a True Hereditary disorder of immune system Inferred relationship Some
Severe combined immunodeficiency disease Is a True Hereditary disorder of immune system Inferred relationship Some
Acatalasemia Is a False Hereditary disorder of immune system Inferred relationship Some
Chronic granulomatous disease (disorder) Is a False Hereditary disorder of immune system Inferred relationship Some
Familial sea-blue histiocytosis Is a False Hereditary disorder of immune system Inferred relationship Some
Triglyceride storage disease with ichthyosis Is a False Hereditary disorder of immune system Inferred relationship Some
Hereditary white blood cell disorder (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
X-linked agammaglobulinemia with growth hormone deficiency Is a True Hereditary disorder of immune system Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Hereditary angioedema without abnormal C1 inhibitor levels or function. One type has been found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. Mechanisms include mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors. Is a False Hereditary disorder of immune system Inferred relationship Some
Microcephaly, normal intelligence and immunodeficiency Is a True Hereditary disorder of immune system Inferred relationship Some
Common variable immunodeficiency with autoantibodies to B- or T-cells Is a False Hereditary disorder of immune system Inferred relationship Some
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions (disorder) Is a False Hereditary disorder of immune system Inferred relationship Some
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders Is a False Hereditary disorder of immune system Inferred relationship Some
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Is a True Hereditary disorder of immune system Inferred relationship Some
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. Is a False Hereditary disorder of immune system Inferred relationship Some
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. Is a True Hereditary disorder of immune system Inferred relationship Some
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. Is a True Hereditary disorder of immune system Inferred relationship Some
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. Is a True Hereditary disorder of immune system Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a False Hereditary disorder of immune system Inferred relationship Some
A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. Is a True Hereditary disorder of immune system Inferred relationship Some
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Is a False Hereditary disorder of immune system Inferred relationship Some
Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. Is a False Hereditary disorder of immune system Inferred relationship Some
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Is a True Hereditary disorder of immune system Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Is a True Hereditary disorder of immune system Inferred relationship Some
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischaemic or haemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. Is a True Hereditary disorder of immune system Inferred relationship Some
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features. Is a True Hereditary disorder of immune system Inferred relationship Some
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Is a True Hereditary disorder of immune system Inferred relationship Some
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. Is a True Hereditary disorder of immune system Inferred relationship Some
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, hereditary, immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Is a False Hereditary disorder of immune system Inferred relationship Some
A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). Is a True Hereditary disorder of immune system Inferred relationship Some
STING-associated vasculopathy with onset in infancy (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988. Is a False Hereditary disorder of immune system Inferred relationship Some
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. Is a True Hereditary disorder of immune system Inferred relationship Some
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumoniae), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients. Is a True Hereditary disorder of immune system Inferred relationship Some
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. Is a True Hereditary disorder of immune system Inferred relationship Some
Genetically determined myasthenia Is a True Hereditary disorder of immune system Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a False Hereditary disorder of immune system Inferred relationship Some
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Is a True Hereditary disorder of immune system Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) Is a True Hereditary disorder of immune system Inferred relationship Some
Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. Is a True Hereditary disorder of immune system Inferred relationship Some
Autoimmune lymphoproliferative syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - deficient factor Is a True Hereditary disorder of immune system Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Is a True Hereditary disorder of immune system Inferred relationship Some
Familial cold urticaria Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. Is a True Hereditary disorder of immune system Inferred relationship Some
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare monogenic form of cutaneous lupus erythematosus characterised by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischaemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. Is a True Hereditary disorder of immune system Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary disorder of immune system Inferred relationship Some
Nakajo-Nishimura syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
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. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported. Is a True Hereditary disorder of immune system Inferred relationship Some
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. Is a True Hereditary disorder of immune system Inferred relationship Some
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. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. Is a True Hereditary disorder of immune system Inferred relationship Some
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. Is a True Hereditary disorder of immune system Inferred relationship Some
Common variable agammaglobulinemia Is a True Hereditary disorder of immune system Inferred relationship Some
Hereditary paediatric Behçet-like disease Is a True Hereditary disorder of immune system Inferred relationship Some
Aicardi Goutieres syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others. Is a True Hereditary disorder of immune system Inferred relationship Some
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections. Is a True Hereditary disorder of immune system Inferred relationship Some
Spondyloenchondrodysplasia Is a True Hereditary disorder of immune system Inferred relationship Some
Singleton-Merten syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
Trichohepatoenteric syndrome Is a True Hereditary disorder of immune system Inferred relationship Some
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. Is a True Hereditary disorder of immune system Inferred relationship Some
A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant. Is a True Hereditary disorder of immune system Inferred relationship Some

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