Severe Combined Immunodeficiency, X-linked; Scidx1

Table of contents:

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

Genes related to Severe Combined Immunodeficiency, X-linked; Scidx1

IL2RG

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Combined Immunodeficiency, X-linked; Scidx1

Growth delay
Failure to thrive
Hepatomegaly
Diarrhea
Immunodeficiency
Recurrent infections
Pneumonia
Skin rash
Decreased antibody level in blood
Chronic diarrhea

And another 14 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.

Alternative names

Severe Combined Immunodeficiency, X-linked; Scidx1 Is also known as xscid, severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative, imd4, scidx, immunodeficiency 4, scid, x-linked.

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.

Severe Combined Immunodeficiency, X-linked; Scidx1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IL2RG Familial Mutation/Variant Analysis. By Baylor Miraca Genetics Laboratories (United States). IL2RG Specificity 100 % Genes 100 %
IL2RG Prenatal Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). IL2RG Specificity 100 % Genes 100 %
IL2RG Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). IL2RG Specificity 100 % Genes 100 %
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories (United States). RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...) View the complete list with 139 more genes Panel complete gene list RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK, TGM1, TH, TTPA, UBE3A, UGT1A1, USH1C, USH2A, CLRN1, WAS, MCOLN1, NPHS2, CDH23, PCDH15, CAPN3, CBS, HPS3, LRPPRC, RTEL1, MLC1, DCLRE1C, ADA, CFTR, CHAT, POMGNT1, CHRNE, SUMF1, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, ADAMTS2, COL4A3, CPT1A, ETHE1, CPT2, GNE, MMACHC, TMEM216, CTNS, CTSK, CYBB, CYP1B1, CYP27A1, BBS10, DOK7, DBT, DHCR7, DLD, DMD, GNPTAB, DPYD, AGA, AGL, EIF2B5, AGXT, FAH, FANCC, FKTN, FH, FMR1, ALDH3A2, G6PC, G6PD, SLC37A4, GAA, GALC, GALT, ALDOB, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, ALPL, GRHPR, AMT, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HMGCL, HSD17B4, IDUA, ABCC8, ELP1, IL2RG, ABCD1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MECP2, ARSA, MPI, MPL, ASL, MTTP, ASPA, ASS1, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, ATM, OCRL, OTC, PAH, PC, PCCA, PCCB, ATP7B, SLC26A4, PEX1, PEX7, ACADM, PHGDH, SERPINA1, PKHD1, PLA2G6, PMM2, POLG, ACADVL, PPT1, PROP1, BBS1, BBS2, PTS, PEX2, BCKDHA, RAPSN, BCKDHB Specificity 1 % Genes 100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). CD3D, CD3E, ADA, IL2RG, IL7R, JAK3, RAG1, RAG2 Specificity 13 % Genes 100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). ADA, IL2RG, IL7R Specificity 34 % Genes 100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). CD3D, CD3E, DCLRE1C, ADA, IL2RG, IL7R, JAK3, RAG1, RAG2 Specificity 12 % Genes 100 %
Severe Combined Immunodeficiency (SCID): IL2RG for XSCID (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). IL2RG Specificity 100 % Genes 100 %

You can get up to 57 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA 3; THC3 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5 SPINOCEREBELLAR ATAXIA 17; SCA17 SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J PHEOCHROMOCYTOMA NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA; HMSN6A