Auto-inflammatory disorders: Difference between revisions

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  | pmid = 10985982
  | pmid = 10985982
}}</ref>
}}</ref>
*Colchicine has also proved used in reducing painful attacks.<ref>{{Cite journal
*Colchicine has also proved useful in reducing painful attacks.<ref>{{Cite journal
  | author = [[S. E. Goldfinger]]
  | author = [[S. E. Goldfinger]]
  | title = Colchicine for familial Mediterranean fever
  | title = Colchicine for familial Mediterranean fever
Line 60: Line 60:
  | pmid = 4636899
  | pmid = 4636899
}}</ref>
}}</ref>
For detailed information about Familial mediterranean fever, click here [[Familial mediterranean fever]]
      
      
==
==Mevalonate kinase deficiency (Hyper IgD syndrome)==
*Autosomal recessive(AR) transmission.
*It is caused by homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12.
*Patients present with cervical adenopathy, headache, arthralgia and diarrhea.
*Laboratory findings include leukocytosis with high IgD levels.
 
==TNF receptor-associated periodic syndrome==
*Autosomal dominant (AD) transmission.
*It is caused by heterozygous mutation in the tumor necrosis factor receptor-1 gene (TNFRSF1A) on chromosome 12.<ref>{{Cite journal
| author = [[M. F. McDermott]], [[B. W. Ogunkolade]], [[E. M. McDermott]], [[L. C. Jones]], [[Y. Wan]], [[K. A. Quane]], [[J. McCarthy]], [[M. Phelan]], [[M. G. Molloy]], [[R. J. Powell]], [[C. I. Amos]] & [[G. A. Hitman]]
| title = Linkage of familial Hibernian fever to chromosome 12p13
| journal = [[American journal of human genetics]]
| volume = 62
| issue = 6
| pages = 1446–1451
| year = 1998
| month = June
| doi = 10.1086/301886
| pmid = 9585614
}}</ref>
*Patients present with recurrent attacks of fever, abdominal pain, tender skin lesions, and myalgia.<ref>{{Cite journal
| author = [[L. M. Williamson]], [[D. Hull]], [[R. Mehta]], [[W. G. Reeves]], [[B. H. Robinson]] & [[P. J. Toghill]]
| title = Familial Hibernian fever
| journal = [[The Quarterly journal of medicine]]
| volume = 51
| issue = 204
| pages = 469–480
| year = 1982
| month =
| pmid = 7156325
}}</ref>
*Etanercept has proven successful as treatment in a case of a young Danish child.
<ref>{{Cite journal
| author = [[Heike Weyhreter]], [[Marianne Schwartz]], [[Tim D. Kristensen]], [[Niels H. Valerius]] & [[Anders Paerregaard]]
| title = A new mutation causing autosomal dominant periodic fever syndrome in a Danish family
| journal = [[The Journal of pediatrics]]
| volume = 142
| issue = 2
| pages = 191–193
| year = 2003
| month = February
| doi = 10.1067/mpd.2003.15
| pmid = 12584543
}}</ref>
 
==Familial Cold Autoinflammatory Syndrome (CAPS)==
*Autosomal dominant (AD) transmission.
*It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
*Patients present with maculopapular rash, fever, chills and arthralgias after exposure to cold temperature.
*For detailed information about Familial Cold Autoinflammatory Syndrome, click here [[Familial cold urticaria]]
 
==Muckle Wells Syndrome (CAPS)==
*Autosomal dominant (AD) transmission.
*It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
*Patients present with skin rashes, arthralgias, and fever along with sensorineural deafness and renal amyloidosis.<ref>{{Cite journal
| author = [[Catherine Dode]], [[Nathalie Le Du]], [[Laurence Cuisset]], [[Frank Letourneur]], [[Jean-Marie Berthelot]], [[Gerard Vaudour]], [[Alain Meyrier]], [[Richard A. Watts]], [[David G. I. Scott]], [[Anne Nicholls]], [[Brigitte Granel]], [[Camille Frances]], [[Francois Garcier]], [[Patrick Edery]], [[Serge Boulinguez]], [[Jean-Paul Domergues]], [[Marc Delpech]] & [[Gilles Grateau]]
| title = New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes
| journal = [[American journal of human genetics]]
| volume = 70
| issue = 6
| pages = 1498–1506
| year = 2002
| month = June
| pmid = 11992256
}}</ref>
 
 
 
 


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 17:25, 18 October 2018

Immunodeficiency Main Page

Home

Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Classification

 
 
 
 
 
 
 
 
 
 
 
 
Auto-inflammatory disorders
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Recurrent inflammation
 
 
 
Systemic inflammation with urticaria rash
 
 
 
Others
 
 
 
 
Sterile inflammation (skin/bone/joints)
 
 
 
 
 
Type 1 Interferonopathies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Familial Mediterranean Fever
 
 
 
 
Familial Cold Autoinflammatory Syndrome (CAPS)
 
 
 
 
CANDLE syndrome
 
Predominant on the bone/joints
 
 
Predominant on the skin
 
 
 
 
Aicardi-Goutieres syndrome
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Mevalonate kinase deficiency
 
 
 
 
Muckle Wells syndrome
 
 
 
 
COPA defect
 
 
 
Pyogenic sterile arthritis, pyoderma gangrenosum, acne(PAPA) syndrome, hyperzincemia and hypercalprotectinemia
 
 
 
Blau syndrome
 
 
 
Spondyloenchondro-dysplasia with immune dysregulation
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
TNF receptor-associated periodic syndrome; TRAPS
 
 
 
 
Neonatal onset multisystem inflammatory disease
 
 
 
 
NLRC4-MAS(Macrophage activating syndrome)
 
 
 
Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia
 
 
 
CAMPS
 
 
 
STING-associated vasculopathy, infantile onset
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
PLAID (PLCg2 associated antibody deficiency and immune dysregulation), or APLAID
 
 
 
 
 
 
 
 
 
DIRA (Deficiency of the interleukin 1 receptor antagonist)
 
 
 
DITRA
 
 
 
ADA2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
NLRP1 deficiency
 
 
 
 
 
 
 
 
 
Cherubism
 
 
 
ADAM17 deficiency
 
 
 
XL reticulate pigmentary disorder
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
A20 haploinsufficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SLC29A3 mutation
 
 
 
USP18 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Otulipenia/ORAS
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
AP153 deficiency
 
 
 
 
 
 
 

Familial Mediterranean Fever

  • Autosomal recessive (AR) transmission.
  • It is caused by mutation in the pyrin gene (MEFV) on chromosome 16.
  • Patients present with recurrent fever and attacks of peritonitis.
  • Attacks are self-limiting, and require analgesia and non-steroidal anti-inflammatory drugs (such as diclofenac)[1]
  • Colchicine has also proved useful in reducing painful attacks.[2]

For detailed information about Familial mediterranean fever, click here Familial mediterranean fever

Mevalonate kinase deficiency (Hyper IgD syndrome)

  • Autosomal recessive(AR) transmission.
  • It is caused by homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12.
  • Patients present with cervical adenopathy, headache, arthralgia and diarrhea.
  • Laboratory findings include leukocytosis with high IgD levels.

TNF receptor-associated periodic syndrome

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the tumor necrosis factor receptor-1 gene (TNFRSF1A) on chromosome 12.[3]
  • Patients present with recurrent attacks of fever, abdominal pain, tender skin lesions, and myalgia.[4]
  • Etanercept has proven successful as treatment in a case of a young Danish child.

[5]

Familial Cold Autoinflammatory Syndrome (CAPS)

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
  • Patients present with maculopapular rash, fever, chills and arthralgias after exposure to cold temperature.
  • For detailed information about Familial Cold Autoinflammatory Syndrome, click here Familial cold urticaria

Muckle Wells Syndrome (CAPS)

  • Autosomal dominant (AD) transmission.
  • It is caused by heterozygous mutation in the NLRP3 gene on chromosome 1.
  • Patients present with skin rashes, arthralgias, and fever along with sensorineural deafness and renal amyloidosis.[6]



References

  1. ↑ A. Livneh & P. Langevitz (2000). "Diagnostic and treatment concerns in familial Mediterranean fever". Bailliere's best practice & research. Clinical rheumatology. 14 (3): 477–498. doi:10.1053/berh.2000.0089. PMID 10985982. Unknown parameter |month= ignored (help)
  2. ↑ S. E. Goldfinger (1972). "Colchicine for familial Mediterranean fever". The New England journal of medicine. 287 (25): 1302. doi:10.1056/NEJM197212212872514. PMID 4636899. Unknown parameter |month= ignored (help)
  3. ↑ M. F. McDermott, B. W. Ogunkolade, E. M. McDermott, L. C. Jones, Y. Wan, K. A. Quane, J. McCarthy, M. Phelan, M. G. Molloy, R. J. Powell, C. I. Amos & G. A. Hitman (1998). "Linkage of familial Hibernian fever to chromosome 12p13". American journal of human genetics. 62 (6): 1446–1451. doi:10.1086/301886. PMID 9585614. Unknown parameter |month= ignored (help)
  4. ↑ L. M. Williamson, D. Hull, R. Mehta, W. G. Reeves, B. H. Robinson & P. J. Toghill (1982). "Familial Hibernian fever". The Quarterly journal of medicine. 51 (204): 469–480. PMID 7156325.
  5. ↑ Heike Weyhreter, Marianne Schwartz, Tim D. Kristensen, Niels H. Valerius & Anders Paerregaard (2003). "A new mutation causing autosomal dominant periodic fever syndrome in a Danish family". The Journal of pediatrics. 142 (2): 191–193. doi:10.1067/mpd.2003.15. PMID 12584543. Unknown parameter |month= ignored (help)
  6. ↑ Catherine Dode, Nathalie Le Du, Laurence Cuisset, Frank Letourneur, Jean-Marie Berthelot, Gerard Vaudour, Alain Meyrier, Richard A. Watts, David G. I. Scott, Anne Nicholls, Brigitte Granel, Camille Frances, Francois Garcier, Patrick Edery, Serge Boulinguez, Jean-Paul Domergues, Marc Delpech & Gilles Grateau (2002). "New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes". American journal of human genetics. 70 (6): 1498–1506. PMID 11992256. Unknown parameter |month= ignored (help)
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