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Recurrent infections associated with rare immunoglobulin isotypes deficiency(IGKCD)

MedGen UID:
481454
Concept ID:
C3279824
Disease or Syndrome
Synonyms: Immunoglobulin kappa light chain deficiency; KAPPA CHAIN DEFICIENCY
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Gene (location): IGKC (2p11.2)
 
Monarch Initiative: MONDO:0013576
OMIM®: 614102
Orphanet: ORPHA183675

Definition

Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. [from ORDO]

Clinical features

From HPO
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Absent circulating immunoglobulin kappa chain
MedGen UID:
1053511
Concept ID:
CN376773
Finding
Nondetectable kappa chain in the blood circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent infections associated with rare immunoglobulin isotypes deficiency
Follow this link to review classifications for Recurrent infections associated with rare immunoglobulin isotypes deficiency in Orphanet.

Recent clinical studies

Etiology

Raedler J, Magg T, Rohlfs M, Klein C, Vallée T, Hauck F, Albert MH
J Clin Immunol 2021 Oct;41(7):1536-1548. Epub 2021 Jun 2 doi: 10.1007/s10875-021-01069-5. PMID: 34080085Free PMC Article
Du X, Tang W, Chen X, Zeng T, Wang Y, Chen Z, Xu T, Zhou L, Tang X, An Y, Zhao X
Scand J Immunol 2019 Oct;90(4):e12798. Epub 2019 Jul 21 doi: 10.1111/sji.12798. PMID: 31179555
Janssen LMA, Macken T, Creemers MCW, Pruijt JFM, Eijk JJJ, de Vries E
Clin Exp Immunol 2018 Feb;191(2):203-211. Epub 2017 Oct 27 doi: 10.1111/cei.13065. PMID: 28984901Free PMC Article
Kallio-Laine K, Seppänen M, Aittoniemi J, Kautiainen H, Seppälä I, Valtonen V, Färkkilä M, Kalso E, Lokki ML
Hum Immunol 2010 Feb;71(2):179-81. Epub 2009 Oct 30 doi: 10.1016/j.humimm.2009.10.014. PMID: 19879913
Hill SL, Mitchell JL, Burnett D, Stockley RA
Thorax 1998 Jun;53(6):463-8. doi: 10.1136/thx.53.6.463. PMID: 9713445Free PMC Article

Diagnosis

Drago E, Garbarino F, Signa S, Grossi A, Schena F, Penco F, Santori E, Candotti F, Boztug K, Volpi S, Gattorno M, Caorsi R
Front Immunol 2022;13:937108. Epub 2022 Sep 9 doi: 10.3389/fimmu.2022.937108. PMID: 36159847Free PMC Article
Jolles S, Michallet M, Agostini C, Albert MH, Edgar D, Ria R, Trentin L, Lévy V
Eur J Haematol 2021 Apr;106(4):439-449. Epub 2021 Feb 2 doi: 10.1111/ejh.13580. PMID: 33453130
Du X, Tang W, Chen X, Zeng T, Wang Y, Chen Z, Xu T, Zhou L, Tang X, An Y, Zhao X
Scand J Immunol 2019 Oct;90(4):e12798. Epub 2019 Jul 21 doi: 10.1111/sji.12798. PMID: 31179555
Janssen LMA, Macken T, Creemers MCW, Pruijt JFM, Eijk JJJ, de Vries E
Clin Exp Immunol 2018 Feb;191(2):203-211. Epub 2017 Oct 27 doi: 10.1111/cei.13065. PMID: 28984901Free PMC Article
Notarangelo LD, Duse M, Ugazio AG
Immunodefic Rev 1992;3(2):101-21. PMID: 1554497

Therapy

Drago E, Garbarino F, Signa S, Grossi A, Schena F, Penco F, Santori E, Candotti F, Boztug K, Volpi S, Gattorno M, Caorsi R
Front Immunol 2022;13:937108. Epub 2022 Sep 9 doi: 10.3389/fimmu.2022.937108. PMID: 36159847Free PMC Article
Jolles S, Michallet M, Agostini C, Albert MH, Edgar D, Ria R, Trentin L, Lévy V
Eur J Haematol 2021 Apr;106(4):439-449. Epub 2021 Feb 2 doi: 10.1111/ejh.13580. PMID: 33453130
Tiotiu A, Martinet Y, Jankowski R, Devillier P
J Asthma 2019 Jan;56(1):79-83. Epub 2018 Feb 8 doi: 10.1080/02770903.2018.1426768. PMID: 29420096
Kashef S, Ghaedian MM, Rezaei N, Karamizadeh Z, Aghamohammadi A, Durandy A, Pan-Hammarstrom Q, Hammarstrom L
J Investig Allergol Clin Immunol 2009;19(3):233-6. PMID: 19610268
Notarangelo LD, Duse M, Ugazio AG
Immunodefic Rev 1992;3(2):101-21. PMID: 1554497

Prognosis

Agarwal S, Cunningham-Rundles C
Ann Allergy Asthma Immunol 2007 Feb;98(2):185-90. doi: 10.1016/S1081-1206(10)60695-3. PMID: 17304889Free PMC Article
Hill SL, Mitchell JL, Burnett D, Stockley RA
Thorax 1998 Jun;53(6):463-8. doi: 10.1136/thx.53.6.463. PMID: 9713445Free PMC Article
Notarangelo LD, Duse M, Ugazio AG
Immunodefic Rev 1992;3(2):101-21. PMID: 1554497
Cunningham-Rundles C
J Clin Immunol 1989 Jan;9(1):22-33. doi: 10.1007/BF00917124. PMID: 2784795
Leung DY, Geha RS
Hematol Oncol Clin North Am 1988 Mar;2(1):81-100. PMID: 3279022

Clinical prediction guides

Berbers RM, Mohamed Hoesein FAA, Ellerbroek PM, van Montfrans JM, Dalm VASH, van Hagen PM, Paganelli FL, Viveen MC, Rogers MRC, de Jong PA, Uh HW, Willems RJL, Leavis HL
Front Immunol 2020;11:1245. Epub 2020 Jun 19 doi: 10.3389/fimmu.2020.01245. PMID: 32636843Free PMC Article
Du X, Tang W, Chen X, Zeng T, Wang Y, Chen Z, Xu T, Zhou L, Tang X, An Y, Zhao X
Scand J Immunol 2019 Oct;90(4):e12798. Epub 2019 Jul 21 doi: 10.1111/sji.12798. PMID: 31179555
Wu J, Chen J, Tian ZQ, Zhang H, Gong RL, Chen TX, Hong L
J Clin Immunol 2017 Feb;37(2):166-179. Epub 2017 Feb 14 doi: 10.1007/s10875-017-0369-7. PMID: 28197791
Hill SL, Mitchell JL, Burnett D, Stockley RA
Thorax 1998 Jun;53(6):463-8. doi: 10.1136/thx.53.6.463. PMID: 9713445Free PMC Article
Kroczek RA, Graf D, Brugnoni D, Giliani S, Korthüer U, Ugazio A, Senger G, Mages HW, Villa A, Notarangelo LD
Immunol Rev 1994 Apr;138:39-59. doi: 10.1111/j.1600-065x.1994.tb00846.x. PMID: 7915248

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