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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
Describes an inherited disorder with unknown mode of inheritance.
 
Gene (location): RAC2 (22q13.1)
OMIM®: 608203
Orphanet: ORPHA183707

Clinical features

Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A neutrophil abnormality.
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A neutrophil abnormality.
Immunodeficiency
MedGen UID:
505335
Concept ID:
CN002471
Finding
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the immune system.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGNeutrophil immunodeficiency syndrome

Recent clinical studies

Etiology

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
Domínguez-Luis M, Herrera-García A, Arce-Franco M, Armas-González E, Rodríguez-Pardo M, Lorenzo-Díaz F, Feria M, Cadenas S, Sánchez-Madrid F, Díaz-González F
Biochem Pharmacol 2013 Jan 15;85(2):245-56. Epub 2012 Nov 8 doi: 10.1016/j.bcp.2012.10.024. [Epub ahead of print] PMID: 23142710
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

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
Rai N, Thakur N
J Pediatr Hematol Oncol 2013 Aug;35(6):468-9. doi: 10.1097/MPH.0b013e31827e57b2. PMID: 23337546
Uzzaman A, Fuleihan RL
Allergy Asthma Proc 2012 May-Jun;33 Suppl 1:S91-5. doi: 10.2500/aap.2012.33.3560. PMID: 22794700
van den Berg JM, Kuijpers TW
Eur J Pediatr 2011 Nov;170(11):1369-76. Epub 2011 Oct 4 doi: 10.1007/s00431-011-1584-5. [Epub ahead of print] PMID: 21968907Free PMC Article

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
Chu-Yuan H, Jing P, Yi-Sheng W, He-Ping P, Hui Y, Chu-Xiong Z, Guo-Jian L, Guo-Qiang W
BMC Cancer 2013 Apr 3;13:177. doi: 10.1186/1471-2407-13-177. [Epub ahead of print] PMID: 23551939Free PMC Article
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

Clinical prediction guides

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
Domínguez-Luis M, Herrera-García A, Arce-Franco M, Armas-González E, Rodríguez-Pardo M, Lorenzo-Díaz F, Feria M, Cadenas S, Sánchez-Madrid F, Díaz-González F
Biochem Pharmacol 2013 Jan 15;85(2):245-56. Epub 2012 Nov 8 doi: 10.1016/j.bcp.2012.10.024. [Epub ahead of print] PMID: 23142710
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. [Epub ahead of print] PMID: 21352207Free PMC Article

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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