Immunoglobulin Kappa Light Chain Deficiency; Igkcd

Description

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.

Clinical Features

Phenotypes and symptoms related to Immunoglobulin Kappa Light Chain Deficiency; Igkcd

  • Diarrhea
  • Recurrent respiratory infections
  • Recurrent infections
  • Respiratory tract infection
  • Abnormal immunoglobulin level

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Immunoglobulin Kappa Light Chain Deficiency; Igkcd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Antibody deficiencies Panel.

By CeGaT GmbH in Germany.

UNG, RTEL1, BTK, TCF4, DKC1, TNFRSF13B, AICDA, CD40, CD40LG, LRBA, NFKB2, PIK3R1, CD19, CR2, CD81, ICOS, TNFRSF13C, MS4A1, LRRC8A, BLNK , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %

Alternate names

Immunoglobulin Kappa Light Chain Deficiency; Igkcd Is also known as kappa chain deficiency;igg subclass deficiency with iga subclass deficiency; isolated igg subclass deficiency; kappa-chain deficiency; selective igg subclass deficiency.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SCHWANNOMATOSIS 1; SWNTS1 PHOSPHOHYDROXYLYSINURIA; PHLU MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME; MMFD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more