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Neutrophil immunodeficiency syndrome

MedGen UID:
374920
Concept ID:
C1842398
Disease or Syndrome
Synonyms: Neutrophil Immunodeficiency Syndrome
 
Gene (location): RAC2 (22q13.1)
OMIM®: 608203
Orphanet: ORPHA183707

Clinical features

Abnormality of granulocytes
MedGen UID:
488900
Concept ID:
C0427515
Finding
An abnormality of granulocytes.
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.
Abnormality of granulocytes
MedGen UID:
488900
Concept ID:
C0427515
Finding
An abnormality of granulocytes.
Abnormality of immune system physiology
MedGen UID:
869194
Concept ID:
C4023616
Pathologic Function
A functional abnormality of the immune system.

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

Benites-Zapata VA, Hernandez AV, Nagarajan V, Cauthen CA, Starling RC, Tang WH
Am J Cardiol 2015 Jan 1;115(1):57-61. Epub 2014 Oct 13 doi: 10.1016/j.amjcard.2014.10.008. [Epub ahead of print] PMID: 25456873Free 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. [Epub ahead of print] PMID: 25107295Free PMC Article
Casulli S, Coignard-Biehler H, Amazzough K, Shoai-Tehrani M, Bayry J, Mahlaoui N, Elbim C, Kaveri SV
Immunol Res 2014 Oct;60(1):69-76. doi: 10.1007/s12026-014-8555-7. PMID: 24981124
Kerkhoff AD, Wood R, Lowe DM, Vogt M, Lawn SD
PLoS One 2013;8(7):e67956. Epub 2013 Jul 9 doi: 10.1371/journal.pone.0067956. PMID: 23874476Free 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. [Epub ahead of print] PMID: 21352207Free PMC Article

Diagnosis

Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO
Blood 2015 Sep 24;126(13):1527-35. Epub 2015 Jul 29 doi: 10.1182/blood-2014-12-611012. [Epub ahead of print] PMID: 26224645Free 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: 25511220
Wang L, Kantovitz KR, Cullinane AR, Nociti FH Jr, Foster BL, Roney JC, Tran AB, Introne WJ, Somerman MJ
Orphanet J Rare Dis 2014 Dec 21;9:212. doi: 10.1186/s13023-014-0212-7. [Epub ahead of print] PMID: 25528552Free 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. [Epub ahead of print] PMID: 25107295Free 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. [Epub ahead of print] PMID: 25081842

Therapy

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. [Epub ahead of print] PMID: 25107295Free PMC Article
Al Ustwani O, Kurzrock R, Wetzler M
Br J Haematol 2014 Jan;164(1):15-23. Epub 2013 Sep 20 doi: 10.1111/bjh.12574. [Epub ahead of print] PMID: 24111611Free 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
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. [Epub ahead of print] 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

Benites-Zapata VA, Hernandez AV, Nagarajan V, Cauthen CA, Starling RC, Tang WH
Am J Cardiol 2015 Jan 1;115(1):57-61. Epub 2014 Oct 13 doi: 10.1016/j.amjcard.2014.10.008. [Epub ahead of print] PMID: 25456873Free 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. [Epub ahead of print] 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. [Epub ahead of print] 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

Lood C, Blanco LP, Purmalek MM, Carmona-Rivera C, De Ravin SS, Smith CK, Malech HL, Ledbetter JA, Elkon KB, Kaplan MJ
Nat Med 2016 Feb;22(2):146-53. Epub 2016 Jan 18 doi: 10.1038/nm.4027. [Epub ahead of print] PMID: 26779811Free PMC Article
Six E, Lagresle-Peyrou C, Susini S, De Chappedelaine C, Sigrist N, Sadek H, Chouteau M, Cagnard N, Fontenay M, Hermine O, Chomienne C, Reynier P, Fischer A, André-Schmutz I, Gueguen N, Cavazzana M
Cell Death Dis 2015 Aug 13;6:e1856. doi: 10.1038/cddis.2015.211. PMID: 26270350Free PMC Article
de Koning HD, van Vlijmen-Willems IM, Rodijk-Olthuis D, van der Meer JW, Zeeuwen PL, Simon A, Schalkwijk J
Br J Dermatol 2015 Aug;173(2):448-56. Epub 2015 Jul 20 doi: 10.1111/bjd.13857. [Epub ahead of print] PMID: 25904179
Casulli S, Coignard-Biehler H, Amazzough K, Shoai-Tehrani M, Bayry J, Mahlaoui N, Elbim C, Kaveri SV
Immunol Res 2014 Oct;60(1):69-76. doi: 10.1007/s12026-014-8555-7. PMID: 24981124
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

Recent systematic reviews

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
Moyle G, Sawyer W, Law M, Amin J, Hill A
Clin Ther 2004 Jan;26(1):92-7. PMID: 14996521
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. PMID: 345796

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