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Absent circulating immunoglobulin kappa chain

MedGen UID:
1053511
Concept ID:
CN376773
Finding
HPO: HP:6000261

Definition

Nondetectable kappa chain in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent circulating immunoglobulin kappa chain

Conditions with this feature

Recurrent infections associated with rare immunoglobulin isotypes deficiency
MedGen UID:
481454
Concept ID:
C3279824
Disease or Syndrome
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.

Recent clinical studies

Etiology

Ondrejka SL, Lai R, Smith SD, Hsi ED
Haematologica 2011 Aug;96(8):1121-7. Epub 2011 Apr 20 doi: 10.3324/haematol.2010.036277. PMID: 21508124Free PMC Article

Diagnosis

Li X, Qi X, Ma Z, Huang W
BMC Nephrol 2022 Nov 30;23(1):382. doi: 10.1186/s12882-022-03005-0. PMID: 36451151Free PMC Article
Ondrejka SL, Lai R, Smith SD, Hsi ED
Haematologica 2011 Aug;96(8):1121-7. Epub 2011 Apr 20 doi: 10.3324/haematol.2010.036277. PMID: 21508124Free PMC Article

Therapy

Li X, Qi X, Ma Z, Huang W
BMC Nephrol 2022 Nov 30;23(1):382. doi: 10.1186/s12882-022-03005-0. PMID: 36451151Free PMC Article

Prognosis

Ondrejka SL, Lai R, Smith SD, Hsi ED
Haematologica 2011 Aug;96(8):1121-7. Epub 2011 Apr 20 doi: 10.3324/haematol.2010.036277. PMID: 21508124Free PMC Article

Clinical prediction guides

Meri S, Koistinen V, Miettinen A, Törnroth T, Seppälä IJ
J Exp Med 1992 Apr 1;175(4):939-50. doi: 10.1084/jem.175.4.939. PMID: 1532415Free PMC Article

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