Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome; Lics

Description

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome; Lics

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Feeding difficulties
  • Depressed nasal bridge
  • Immunodeficiency
  • Recurrent infections
  • Midface retrusion

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome; Lics Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NDNL2.

By Fulgent Genetics Fulgent Genetics (United States).

NSMCE3
Specificity
100 %
Genes
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Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, BLM, SH2D1A, SMARCAL1, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, TAPBP, TBX1, TFRC, TNFRSF4, CD40, CD27, CD40LG, TYK2, WAS, FOXN1 , (...)

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Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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