Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome; Lics

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome; Lics

NSMCE3

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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.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (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.

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 100 %
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 Panel complete gene list RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1, TCF3, TCN2, TERC, TERT, TFRC, THBD, TINF2, TNFAIP3, TNFRSF1A, TNFRSF4, CD40, FAS, CD27, CD40LG, FASLG, CD70, TREX1, SERPING1, ACP5, C1QA, C1QB, TYK2, C1QC, C1S, C2, UNG, USP18, WAS, WIPF1, WDR1, FOXN1, ZAP70, IKZF1, C3, ACTB, AICDA, BCL11B, TRAF3IP2, SAMD9, UNC93B1, SAMD9L, BACH2, BLNK, MRTFA, NLRP1, NHP2, NOP10, LPIN2, VPS45, CDCA7, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, RNF31, CD19, CARD9, CARD11, NLRP3, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, CD59, HAX1, HYOU1, CD79A, CD79B, CD81, CD8A, NCSTN, COLEC11, TRNT1, LRBA, DCLRE1B, DCLRE1C, IRAK4, TMC6, TNFRSF13B, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, CFTR, IFIH1, LAT, DDX58, DOCK8, SBDS, ADAM17, LYST, TTC7A, SLC35C1, CLCN7, TMC8, CHD7, ZBTB24, IRF2BP2, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF2RB, CSF3R, G6PC3, MOGS, CTLA4, ACD, OTULIN, CTPS1, CTSC, WRAP53, CXCR4, OFD1, RNASEH2B, NHEJ1, CYBA, CYBB, USB1, ORAI1, CTC1, CD55, RNF168, ERCC6L2, JAGN1, DNAJC21, CARMIL2, CFD, TMEM173, DGKE, MAGT1, DKC1, GINS1, EPG5, DNMT3B, LAMTOR2, DOCK2, PSENEN, SLC46A1, CLPB, ELANE, RNU4ATAC, EXTL3, FADD, AIRE, AK2, ISG15, G6PD, SLC37A4, GATA2, GFI1, TAP1, TAP2, HELLS, CFH, NOD2, ICOS, IRF8, CFI, SP110, IFNAR2, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, ITGB2, ITK, JAK1, JAK3, KRAS, RPSA, LCK, LIG4, MALT1, MAP3K14, RHOH, MASP1, CD46, MEFV, ARPC1B, CIITA, MRE11, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NSMCE3, NFKB1, NFKB2, NFKBIA, PNP, ATM, NRAS, PARN, PEPD, CFP, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PMS2, POLE, POLE2, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, BCL10, RECQL4, RFX5, RFXANK, RFXAP 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 , (...) View the complete list with 58 more genes Panel complete gene list RMRP, BLM, SH2D1A, SMARCAL1, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, TAPBP, TBX1, TFRC, TNFRSF4, CD40, CD27, CD40LG, TYK2, WAS, FOXN1, ZAP70, BCL11B, SPINK5, RTEL1, CARD11, CD3D, CD3E, CD3G, CD247, CD8A, LRBA, DCLRE1C, ADA, LAT, DOCK8, CORO1A, NHEJ1, ORAI1, MAGT1, EPG5, DNMT3B, AK2, TAP1, TAP2, IRF8, SP110, IFNGR1, IKBKB, IL12RB1, IL2RA, IL2RG, IL7R, ITGB2, ITK, JAK3, LCK, LIG4, MALT1, MAP3K14, RHOH, CIITA, MSN, NSMCE3, PNP, ATM, PARN, PGM3, PIK3CD, PMS2, POLE, POLE2, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP 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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