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Meningitis

MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
Synonyms: Meningitides
SNOMED CT: Meningitis (7180009)
 
HPO: HP:0001287

Definition

A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. [from NCI]

Conditions with this feature

Familial Mediterranean fever
MedGen UID:
45811
Concept ID:
C0031069
Disease or Syndrome
Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
Wiskott-Aldrich syndrome
MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
X-linked agammaglobulinemia
MedGen UID:
65123
Concept ID:
C0221026
Disease or Syndrome
X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifest as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics.
Familial hemophagocytic lymphohistiocytosis
MedGen UID:
78797
Concept ID:
C0272199
Pathologic Function
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
X-linked agammaglobulinemia with growth hormone deficiency
MedGen UID:
141630
Concept ID:
C0472813
Disease or Syndrome
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern.Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth.People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood.Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone.Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
MedGen UID:
321935
Concept ID:
C1832322
Disease or Syndrome
Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. Laboratory analysis shows profound lymphopenia with diminished or absent immunoglobulins. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development. Without treatment, patients usually die within the first year of life. The overall prevalence of all types of SCID is approximately 1 in 75,000 births (Fischer et al., 1997; Buckley, 2004). SCID can be divided into 2 main classes: those with B lymphocytes (B+ SCID) and those without (B- SCID). Presence or absence of NK cells is variable within these groups. The most common form of SCID is X-linked T-, B+, NK- SCID (300400) caused by mutation in the IL2RG gene (308380) on chromosome Xq13.1. Autosomal recessive SCID includes T-, B+, NK- SCID (600802) caused by mutation in the JAK3 gene (600173) on 19p13.1; T-, B+, NK+ SCID (608971) caused by mutation in the IL7R gene (146661) on 5p13, the CD45 gene (151460) on 1q31-q32, or the CD3D gene (186790) on 11q23; T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13.11; T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis gene on 10p; and T-, B-, NK+ SCID caused by mutation in the RAG1 and RAG2 genes on 11p13 (Kalman et al., 2004). Approximately 20 to 30% of all SCID patients are T-, B-, NK+, and approximately half of these patients have mutations in the RAG1 or RAG2 genes (Schwarz et al., 1996; Fischer et al., 1997).
Wiskott-Aldrich syndrome, autosomal dominant form
MedGen UID:
322136
Concept ID:
C1833170
Disease or Syndrome
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
MedGen UID:
331474
Concept ID:
C1833275
Disease or Syndrome
JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.
Sacral defect with anterior meningocele
MedGen UID:
325455
Concept ID:
C1838568
Disease or Syndrome
Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.
Immunoglobulin m, level of
MedGen UID:
327005
Concept ID:
C1839966
Finding
Candidiasis, familial, 2
MedGen UID:
347128
Concept ID:
C1859353
Disease or Syndrome
Hemophagocytic lymphohistiocytosis, familial, 2
MedGen UID:
400366
Concept ID:
C1863727
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
Lymphoproliferative syndrome 1, X-linked
MedGen UID:
358381
Concept ID:
C1868674
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Common variable immunodeficiency 2
MedGen UID:
461704
Concept ID:
C3150354
Disease or Syndrome
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a decrease in cell fragments involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer.People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.
Agammaglobulinemia 2, autosomal recessive
MedGen UID:
462100
Concept ID:
C3150750
Disease or Syndrome
Complement component 8 deficiency type 2
MedGen UID:
462430
Concept ID:
C3151080
Disease or Syndrome
Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984). Two types of inherited C8 deficiency have been reported in man: type I (613790), in which only C8 alpha (C8A, 120950) and C8 gamma (C8G; 120930) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).
Complement component 8 deficiency type 1
MedGen UID:
462431
Concept ID:
C3151081
Disease or Syndrome
Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984). Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (613789), in which only C8 beta (C8B; 120960) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).
Complement component 4b deficiency
MedGen UID:
482271
Concept ID:
C3280641
Disease or Syndrome

Recent clinical studies

Etiology

Sulaiman T, Salazar L, Hasbun R
Medicine (Baltimore) 2017 Sep;96(36):e7984. doi: 10.1097/MD.0000000000007984. PMID: 28885354
Hensey CC, Sett A, Connell TG, Bryant PA
Pediatr Infect Dis J 2017 Sep;36(9):827-832. doi: 10.1097/INF.0000000000001605. PMID: 28399052
Sato R, Kuriyama A, Luthe SK
Headache 2017 Apr;57(4):586-592. Epub 2017 Jan 5 doi: 10.1111/head.13022. PMID: 28055104
Ekhtiyari E, Barzegar M, Mehdizadeh A, Shaaker M, Ghodoosifar S, Abhari A, Darabi M
Childs Nerv Syst 2017 Jan;33(1):111-117. Epub 2016 Sep 5 doi: 10.1007/s00381-016-3232-x. PMID: 27596000
Yamahiro A, Lau KH, Peaper DR, Villanueva M
Mycopathologia 2016 Aug;181(7-8):589-93. Epub 2016 Apr 1 doi: 10.1007/s11046-016-0006-7. PMID: 27038312

Diagnosis

Sulaiman T, Salazar L, Hasbun R
Medicine (Baltimore) 2017 Sep;96(36):e7984. doi: 10.1097/MD.0000000000007984. PMID: 28885354
Sato R, Kuriyama A, Luthe SK
Headache 2017 Apr;57(4):586-592. Epub 2017 Jan 5 doi: 10.1111/head.13022. PMID: 28055104
Wootton SH, Aguilera E, Salazar L, Hemmert AC, Hasbun R
Ann Clin Microbiol Antimicrob 2016 Apr 21;15:26. doi: 10.1186/s12941-016-0137-1. PMID: 27101869Free PMC Article
Yamahiro A, Lau KH, Peaper DR, Villanueva M
Mycopathologia 2016 Aug;181(7-8):589-93. Epub 2016 Apr 1 doi: 10.1007/s11046-016-0006-7. PMID: 27038312
Rhein J, Bahr NC, Hemmert AC, Cloud JL, Bellamkonda S, Oswald C, Lo E, Nabeta H, Kiggundu R, Akampurira A, Musubire A, Williams DA, Meya DB, Boulware DR; ASTRO-CM Team.
Diagn Microbiol Infect Dis 2016 Mar;84(3):268-73. Epub 2015 Dec 1 doi: 10.1016/j.diagmicrobio.2015.11.017. PMID: 26711635Free PMC Article

Therapy

Hensey CC, Sett A, Connell TG, Bryant PA
Pediatr Infect Dis J 2017 Sep;36(9):827-832. doi: 10.1097/INF.0000000000001605. PMID: 28399052
Depreitere B, Bruyninckx D, Güiza F
Acta Neurochir Suppl 2016;122:101-4. doi: 10.1007/978-3-319-22533-3_20. PMID: 27165886
Yamahiro A, Lau KH, Peaper DR, Villanueva M
Mycopathologia 2016 Aug;181(7-8):589-93. Epub 2016 Apr 1 doi: 10.1007/s11046-016-0006-7. PMID: 27038312
Inoue T, Shimizu H, Fujimura M, Sato K, Endo H, Niizuma K, Sakata H, Tominaga T
Clin Neurol Neurosurg 2015 Dec;139:302-6. Epub 2015 Nov 1 doi: 10.1016/j.clineuro.2015.10.029. PMID: 26562195
So R, Hirota T, Yamamoto Y, Hishimoto A, Correll CU
Gen Hosp Psychiatry 2015 Nov-Dec;37(6):621.e3-4. Epub 2015 Aug 3 doi: 10.1016/j.genhosppsych.2015.07.011. PMID: 26324862

Prognosis

Sulaiman T, Salazar L, Hasbun R
Medicine (Baltimore) 2017 Sep;96(36):e7984. doi: 10.1097/MD.0000000000007984. PMID: 28885354
Le Rhun E, Taillibert S, Chamberlain MC
Cancer Control 2017 Jan;24(1):22-32. PMID: 28178709
Sato R, Kuriyama A, Luthe SK
Headache 2017 Apr;57(4):586-592. Epub 2017 Jan 5 doi: 10.1111/head.13022. PMID: 28055104
Yamahiro A, Lau KH, Peaper DR, Villanueva M
Mycopathologia 2016 Aug;181(7-8):589-93. Epub 2016 Apr 1 doi: 10.1007/s11046-016-0006-7. PMID: 27038312
Rhein J, Bahr NC, Hemmert AC, Cloud JL, Bellamkonda S, Oswald C, Lo E, Nabeta H, Kiggundu R, Akampurira A, Musubire A, Williams DA, Meya DB, Boulware DR; ASTRO-CM Team.
Diagn Microbiol Infect Dis 2016 Mar;84(3):268-73. Epub 2015 Dec 1 doi: 10.1016/j.diagmicrobio.2015.11.017. PMID: 26711635Free PMC Article

Clinical prediction guides

Sulaiman T, Salazar L, Hasbun R
Medicine (Baltimore) 2017 Sep;96(36):e7984. doi: 10.1097/MD.0000000000007984. PMID: 28885354
Sato R, Kuriyama A, Luthe SK
Headache 2017 Apr;57(4):586-592. Epub 2017 Jan 5 doi: 10.1111/head.13022. PMID: 28055104
Depreitere B, Bruyninckx D, Güiza F
Acta Neurochir Suppl 2016;122:101-4. doi: 10.1007/978-3-319-22533-3_20. PMID: 27165886
Rhein J, Bahr NC, Hemmert AC, Cloud JL, Bellamkonda S, Oswald C, Lo E, Nabeta H, Kiggundu R, Akampurira A, Musubire A, Williams DA, Meya DB, Boulware DR; ASTRO-CM Team.
Diagn Microbiol Infect Dis 2016 Mar;84(3):268-73. Epub 2015 Dec 1 doi: 10.1016/j.diagmicrobio.2015.11.017. PMID: 26711635Free PMC Article
Nesher L, Hadi CM, Salazar L, Wootton SH, Garey KW, Lasco T, Luce AM, Hasbun R
Epidemiol Infect 2016 Jan;144(1):189-97. Epub 2015 May 20 doi: 10.1017/S0950268815000850. PMID: 25989841

Recent systematic reviews

Bortcosh W, Siedner M, Carroll RW
Trop Med Int Health 2017 Sep;22(9):1072-1080. Epub 2017 Jul 10 doi: 10.1111/tmi.12913. PMID: 28627004
McGill F, Heyderman RS, Michael BD, Defres S, Beeching NJ, Borrow R, Glennie L, Gaillemin O, Wyncoll D, Kaczmarski E, Nadel S, Thwaites G, Cohen J, Davies NW, Miller A, Rhodes A, Read RC, Solomon T
J Infect 2016 Apr;72(4):405-38. Epub 2016 Feb 2 doi: 10.1016/j.jinf.2016.01.007. PMID: 26845731
Portnoy A, Jit M, Lauer J, Blommaert A, Ozawa S, Stack M, Murray J, Hutubessy R
Vaccine 2015 May 7;33 Suppl 1:A240-7. doi: 10.1016/j.vaccine.2014.11.061. PMID: 25919168
Thanaviratananich S, Thanaviratananich S, Ngamjarus C
Cochrane Database Syst Rev 2015 Feb 17;(2):CD009088. doi: 10.1002/14651858.CD009088.pub3. PMID: 25687750
Karthikeyan P, Ramalingam KP
Disabil Rehabil 2012;34(18):1585-8. Epub 2012 Jan 19 doi: 10.3109/09638288.2011.651190. PMID: 22256779

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