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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.
See: This record
Unknown inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Recurrent infections
MedGen UID:
65998
•Concept ID:
C0239998
•
Finding
Increased susceptibility to infections.
See: Feature record | Search on this feature
Absent circulating immunoglobulin kappa chain
MedGen UID:
1864160
•Concept ID:
C5937079
•
Laboratory or Test Result
Nondetectable kappa chain in the blood circulation.
See: Search on this feature
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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

Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.
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
Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.
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
Truly selective primary IgM deficiency is probably very rare.
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
HLA-DRB1*01 allele and low plasma immunoglobulin G1 concentration may predispose to herpes-associated recurrent lymphocytic meningitis.
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
Clinical and immunologic analyses of 103 patients with common variable immunodeficiency.
Cunningham-Rundles C
J Clin Immunol 1989 Jan;9(1):22-33. doi: 10.1007/BF00917124. PMID: 2784795

Diagnosis

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.
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
Treating secondary antibody deficiency in patients with haematological malignancy: European expert consensus.
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
Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.
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
Truly selective primary IgM deficiency is probably very rare.
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
Immunodeficiency with hyper-IgM (HIM).
Notarangelo LD, Duse M, Ugazio AG
Immunodefic Rev 1992;3(2):101-21. PMID: 1554497

Therapy

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.
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
Treating secondary antibody deficiency in patients with haematological malignancy: European expert consensus.
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
Gamma globulin replacement therapy in uncontrolled, severe asthma associated with humoral immunodeficiency: A series of five case reports.
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
Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency.
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
Immunodeficiency with hyper-IgM (HIM).
Notarangelo LD, Duse M, Ugazio AG
Immunodefic Rev 1992;3(2):101-21. PMID: 1554497

Prognosis

Thymoma and immunodeficiency (Good syndrome): a report of 2 unusual cases and review of the literature.
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
IgG subclasses in the serum and sputum from patients with bronchiectasis.
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
Immunodeficiency with hyper-IgM (HIM).
Notarangelo LD, Duse M, Ugazio AG
Immunodefic Rev 1992;3(2):101-21. PMID: 1554497
Clinical and immunologic analyses of 103 patients with common variable immunodeficiency.
Cunningham-Rundles C
J Clin Immunol 1989 Jan;9(1):22-33. doi: 10.1007/BF00917124. PMID: 2784795
Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome.
Leung DY, Geha RS
Hematol Oncol Clin North Am 1988 Mar;2(1):81-100. PMID: 3279022

Clinical prediction guides

Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency.
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
Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.
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
Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.
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
IgG subclasses in the serum and sputum from patients with bronchiectasis.
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
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".
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

Supplemental Content

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