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Neutrophil immunodeficiency syndrome

MedGen UID:
374920
Concept ID:
C1842398
Disease or Syndrome
Synonyms: Neutrophil Immunodeficiency Syndrome
Modes of inheritance:
Inheritance with unknown mechanism
MedGen UID:
831588
Concept ID:
CN227389
Intellectual Product
Source: Orphanet
Describes an inherited disorder with unknown mode of inheritance.
SNOMED CT: Neutrophil immunodeficiency syndrome (723443003)
 
Gene (location): RAC2 (22q13.1)
OMIM®: 608203
Orphanet: ORPHA183707

Definition

A primary immunodeficiency characterised by neutrophilia with severe neutrophil dysfunction, leucocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signalling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown. [from SNOMEDCT_US]

Clinical features

Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeutrophil immunodeficiency syndrome
Follow this link to review classifications for Neutrophil immunodeficiency syndrome in Orphanet.

Recent clinical studies

Etiology

Patiroglu T, Akar HH, Unal E, Ozdemir MA, Karakukcu M
Exp Clin Transplant 2017 Jun;15(3):337-343. Epub 2016 Mar 21 doi: 10.6002/ect.2015.0233. PMID: 27001505
Lowe DM, Bangani N, Goliath R, Kampmann B, Wilkinson KA, Wilkinson RJ, Martineau AR
Ann Am Thorac Soc 2015 Nov;12(11):1627-37. doi: 10.1513/AnnalsATS.201507-463OC. PMID: 26368270Free PMC Article
Marais S, Wilkinson KA, Lesosky M, Coussens AK, Deffur A, Pepper DJ, Schutz C, Ismail Z, Meintjes G, Wilkinson RJ
Clin Infect Dis 2014 Dec 1;59(11):1638-47. Epub 2014 Aug 8 doi: 10.1093/cid/ciu641. PMID: 25107295Free PMC Article
Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207Free PMC Article
Haliasos E, Soder B, Rubenstein DS, Henderson W, Morrell DS
Pediatr Dermatol 2005 Nov-Dec;22(6):530-5. doi: 10.1111/j.1525-1470.2005.00133.x. PMID: 16354255

Diagnosis

Patiroglu T, Akar HH, Unal E, Ozdemir MA, Karakukcu M
Exp Clin Transplant 2017 Jun;15(3):337-343. Epub 2016 Mar 21 doi: 10.6002/ect.2015.0233. PMID: 27001505
Caorsi R, Penco F, Schena F, Gattorno M
Pediatr Rheumatol Online J 2016 Sep 8;14(1):51. doi: 10.1186/s12969-016-0111-7. PMID: 27609179Free PMC Article
Mishra A, Italia K, Gupta M, Desai M, Madkaikar M
J Postgrad Med 2015 Jan-Mar;61(1):46-8. doi: 10.4103/0022-3859.147053. PMID: 25511220Free PMC Article
Shigemura T, Yamazaki T, Shiohara M, Kobayashi N, Naganuma K, Koike K, Agematsu K
J Clin Immunol 2014 Oct;34(7):780-3. Epub 2014 Aug 1 doi: 10.1007/s10875-014-0082-8. PMID: 25081842
Dotta L, Tassone L, Badolato R
Curr Mol Med 2011 Jun;11(4):317-25. PMID: 21506920

Therapy

de Wit RH, Heukers R, Brink HJ, Arsova A, Maussang D, Cutolo P, Strubbe B, Vischer HF, Bachelerie F, Smit MJ
J Pharmacol Exp Ther 2017 Oct;363(1):35-44. Epub 2017 Aug 2 doi: 10.1124/jpet.117.242735. PMID: 28768817
Lanini LL, Prader S, Siler U, Reichenbach J
Pediatr Allergy Immunol 2017 Mar;28(2):124-134. Epub 2016 Oct 13 doi: 10.1111/pai.12654. PMID: 27612320
Patiroglu T, Akar HH, Unal E, Ozdemir MA, Karakukcu M
Exp Clin Transplant 2017 Jun;15(3):337-343. Epub 2016 Mar 21 doi: 10.6002/ect.2015.0233. PMID: 27001505
McDermott DH, Liu Q, Ulrick J, Kwatemaa N, Anaya-O'Brien S, Penzak SR, Filho JO, Priel DA, Kelly C, Garofalo M, Littel P, Marquesen MM, Hilligoss D, Decastro R, Fleisher TA, Kuhns DB, Malech HL, Murphy PM
Blood 2011 Nov 3;118(18):4957-62. Epub 2011 Sep 2 doi: 10.1182/blood-2011-07-368084. PMID: 21890643Free PMC Article
Ramdial PK, Sing Y, Subrayan S, Calonje E
Am J Dermatopathol 2010 Dec;32(8):780-6. doi: 10.1097/DAD.0b013e3181dbc5de. PMID: 20802305

Prognosis

Shah NN, Freeman AF, Su H, Cole K, Parta M, Moutsopoulos NM, Baris S, Karakoc-Aydiner E, Hughes TE, Kong HH, Holland SM, Hickstein DD
Biol Blood Marrow Transplant 2017 Jun;23(6):980-990. Epub 2017 Mar 10 doi: 10.1016/j.bbmt.2017.03.016. PMID: 28288951Free PMC Article
Shigemura T, Yamazaki T, Shiohara M, Kobayashi N, Naganuma K, Koike K, Agematsu K
J Clin Immunol 2014 Oct;34(7):780-3. Epub 2014 Aug 1 doi: 10.1007/s10875-014-0082-8. PMID: 25081842
Rai N, Thakur N
J Pediatr Hematol Oncol 2013 Aug;35(6):468-9. doi: 10.1097/MPH.0b013e31827e57b2. PMID: 23337546
Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207Free PMC Article
Bernard F, Picard C, Cormier-Daire V, Eidenschenk C, Pinto G, Bustamante JC, Jouanguy E, Teillac-Hamel D, Colomb V, Funck-Brentano I, Pascal V, Vivier E, Fischer A, Le Deist F, Casanova JL
Pediatrics 2004 Jan;113(1 Pt 1):136-41. PMID: 14702466

Clinical prediction guides

Patiroglu T, Akar HH, Unal E, Ozdemir MA, Karakukcu M
Exp Clin Transplant 2017 Jun;15(3):337-343. Epub 2016 Mar 21 doi: 10.6002/ect.2015.0233. PMID: 27001505
Kurz AR, Pruenster M, Rohwedder I, Ramadass M, Schäfer K, Harrison U, Gouveia G, Nussbaum C, Immler R, Wiessner JR, Margraf A, Lim DS, Walzog B, Dietzel S, Moser M, Klein C, Vestweber D, Haas R, Catz SD, Sperandio M
J Clin Invest 2016 Nov 1;126(11):4125-4139. Epub 2016 Oct 4 doi: 10.1172/JCI87043. PMID: 27701149Free PMC Article
Gupta S, Samra D, Yel L, Agrawal S
Scand J Immunol 2012 Mar;75(3):329-35. doi: 10.1111/j.1365-3083.2011.02653.x. PMID: 21995335
Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207Free PMC Article
Bernard F, Picard C, Cormier-Daire V, Eidenschenk C, Pinto G, Bustamante JC, Jouanguy E, Teillac-Hamel D, Colomb V, Funck-Brentano I, Pascal V, Vivier E, Fischer A, Le Deist F, Casanova JL
Pediatrics 2004 Jan;113(1 Pt 1):136-41. PMID: 14702466

Recent systematic reviews

Carli L, Tani C, Vagnani S, Signorini V, Mosca M
Semin Arthritis Rheum 2015 Oct;45(2):190-4. Epub 2015 May 21 doi: 10.1016/j.semarthrit.2015.05.009. PMID: 26170228
Bhattacharya D, Umbleja T, Carrat F, Chung RT, Peters MG, Torriani F, Andersen J, Currier JS
J Acquir Immune Defic Syndr 2010 Oct;55(2):170-5. doi: 10.1097/QAI.0b013e3181e36420. PMID: 20622678Free PMC Article
Freeman AF, Holland SM
Curr Opin Allergy Clin Immunol 2009 Dec;9(6):525-30. doi: 10.1097/ACI.0b013e328332be33. PMID: 19812481
Shannon KM, Ammann AJ
J Pediatr 1985 Feb;106(2):332-42. PMID: 2982008
Strauss RG
Am J Clin Nutr 1978 Apr;31(4):660-6. doi: 10.1093/ajcn/31.4.660. PMID: 345796

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