PRIMARY IMMUNODEFICIENCIES GENE PANEL

Transcription

1 PRIMARY IMMUNODEFICIENCIES GENE PANEL Gene symbol Depth Coverage OMIM (reads) (avg %) disease Description ACP Spondyloenchondrodysplasia with immune dysregulation ACTB Baraitser-Winter syndrome 1 ADA Adenosine deaminase deficiency partial AGA Aspartylglucosaminuria AICDA Immunodeficiency with hyper-igm type 2 AIRE Autoimmune polyendocrinopathy syndrome type I with or without reversible metaphyseal dysplasia AK Reticular dysgenesis ALG Congenital disorder of glycosylation type Is AP3B Hermansky-Pudlak syndrome 2 ATM Ataxia-telangiectasia BLM Bloom syndrome BLNK Agammaglobulinemia 4 BLOC1S Hermansky-pudlak syndrome 9 BTK Agammaglobulinemia and isolated hormone deficiency C1QA C1q deficiency C1QB C1q deficiency C1QC C1q deficiency C1R C1r/C1s deficiency, combined C1S C1s deficiency C C2 deficiency C C3 deficiency C4B C4B deficiency C C5 deficiency C C6 deficiency C C7 deficiency C8A C8 deficiency type I C8B C8 deficiency type II C C9 deficiency with dermatomyositis

2 CARD Persistent polyclonal B-cell lymphocytosis (3) Immunodeficiency primary autosomal recessive CARD11-related CARD Candidiasis familial 2 autosomal recessive CASP Autoimmune lymphoproliferative syndrome type II CASP Hepatocellular carcinoma somatic CD Immunodeficiency common variable 3 CD Immunodeficiency due to defect in CD3-zeta CD Lymphoproliferative syndrome 2 CD3D Severe combined immunodeficiency T cell-negative B-cell/natural killer-cell positive CD3E CD3G CD Immunodeficiency with hyper-igm type 3 CD40LG Immunodeficiency, X-linked, with hyper-igm CD {Hemolytic uremic syndrome, atypical, susceptibility to, 2} CD [Blood group Cromer] CD CD59 deficiency CD79A Agammaglobulinemia 3 CD79B Agammaglobulinemia 6 CD Immunodeficiency common variable 6 CD8A CD8 deficiency familial CEBPE Specific granule deficiency CFB {Hemolytic uremic syndrome, atypical, susceptibility to, 4} CFD Complement factor D deficiency CFH Complement factor H deficiency CFHR {Hemolytic uremic syndrome, atypical, susceptibility to} CFHR {Hemolytic uremic syndrome, atypical, susceptibility to} CFHR Nephropathy due to CFHR5 deficiency CFI Complement factor I deficiency CFP Properdin deficiency, X-linked CHD CHARGE syndrome CIITA Bare lymphocyte syndrome, type II, complementation group A CIITA {Rheumatoid arthritis, susceptibility to} CLEC4D

3 CLEC7A Candidiasis familial 4 autosomal recessive COLEC MC syndrome 2 CORO1A Immunodeficiency 8 CR Immunodeficiency common variable 7 CREBBP Rubinstein-Taybi syndrome CSF3R Neutrophilia hereditary CTSC Haim-Munk syndrome CXCR Myelokathexis CYBA Chronic granulomatous disease autosomal due to deficiency of CYBA CYBB Atypical mycobacteriosis familial X-linked 2 DCLRE1C Omenn syndrome DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency DKC Dyskeratosis congenita X-linked DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOCK Hyper-IgE recurrent infection syndrome autosomal recessive ELANE Neutropenia cyclic ELF EPG Vici syndrome ERCC Cerebrooculofacioskeletal syndrome 2 ERCC Trichothiodystrophy F Angioedema hereditary type III FADD Infections recurrent with encephalopathy hepatic dysfunction and cardiovasuclar malformations FAS Autoimmune lymphoproliferative syndrome, type IA FASLG Autoimmune lymphoproliferative syndrome, type IB FASLG {Lung cancer, susceptibility to} FCGR3A {Viral infections, recurrent} FCN Immunodeficiency due to ficolin 3 deficiency FERMT Leukocyte adhesion deficiency, type III FOXN T-cell immunodeficiency congenital alopecia and nail dystrophy FOXP Immunodysregulation polyendocrinopathy and enteropathy X-linked FPR G6PC Glycogen storage disease Ia G6PC Dursun syndrome

4 G6PD Favism GATA Dendritic cell monocyte B lymphocyte and natural killer lymphocyte deficiency GFI Neutropenia nonimmune chronic idiopathic of adults GJC Leukodystrophy hypomyelinating 2 GTF2H Trichothiodystrophy complementation group A HAX Neutropenia severe congenital 3 autosomal recessive ICOS Immunodeficiency common variable 1 IFNGR BCG infection generalized familial IFNGR {Mycobacterial infection, atypical, familial disseminated} IGLL Agammaglobulinemia 2 IKBKG Ectodermal dysplasia hypohidrotic with immune deficiency IKZF Leukemia IL10RA Inflammatory bowel disease 28 early onset autosomal recessive IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive IL10RB {Hepatitis B virus, susceptibility to} IL12B BCG and salmonella infection, disseminated IL12B {Asthma, susceptibility to} IL12RB {Mycobacterial and salmonella infections, susceptibility to} IL17F Candidiasis familial 6 autosomal dominant IL17RA Candidiasis familial 5 autosomal recessive IL1RN Interleukin 1 receptor antagonist deficiency IL Severe combined immunodeficiency due to IL2 deficiency IL21R Immunodeficiency primary autosomal recessive IL21R-related IL2RA Interleukin-2 receptor alpha chain deficiency of IL2RG Combined immunodeficiency X-linked moderate IL36RN Psoriasis generalized pustular IL7R Severe combined immunodeficiency T-cell negative B-cell/natural killer cell-positive type INSR Diabetes mellitus insulin-resistant with acanthosis nigricans IRAK Invasive pneumococcal disease recurrent isolated 1 IRF CD11C+/CD1C+ dendritic cell deficiency dominant ITCH Autoimmune disease syndromic multisystem ITGB Leukocyte adhesion deficiency ITK Lymphoproliferative syndrome 1

5 JAK Erythrocytosis somatic JAK SCID autosomal recessive T-negative/B-positive type KMT2D Kabuki syndrome 1 KRAS Bladder cancer somatic LAMTOR Immunodeficiency due to defect in MAPBP-interacting protein LCK SCID due to LCK deficiency LIG LIG LIG4 syndrome LPIN Majeed syndrome LRBA Immunodeficiency common variable 8 with autoimmunity LRRC8A Agammaglobulinemia 5 LYST Chediak-Higashi syndrome MAGT Immunodeficiency X-linked with magnesium defect Epstein-Barr virus infection and neoplasia MAL MAN2B Mannosidosis alpha- types I and II MANBA Mannosidosis beta MASP MASP2 deficiency MBL {Chronic infections, due to MBL deficiency} MC2R Glucocorticoid deficiency due to ACTH unresponsiveness MCM Natural killer cell and glucocorticoid deficiency with DNA repair defect MEFV Familial Mediterranean fever AD MPO Myeloperoxidase deficiency MRE11A Ataxia-telangiectasia-like disorder MS4A Immunodeficiency common variable 5 MTHFD {Abruptio placentae, susceptibility to} MTHFD {Spina bifida, folate-sensitive, susceptibility to} MVK Hyper-IgD syndrome MYD Macroglobulinemia Waldenstrom somatic NBN Aplastic anemia NBN Leukemia, acute lymphoblastic NBN Nijmegen breakage syndrome NCF Chronic granulomatous disease due to deficiency of NCF-2 NCF Granulomatous disease chronic autosomal recessive cytochrome b-positive type III

6 NCSTN Acne inversa familial 1 NDNL NFKBIA Ectodermal dysplasia anhidrotic with T-cell immunodeficiency NHEJ Severe combined immunodeficiency with microcephaly growth retardation and sensitivity to ionizing radiation NHP Dyskeratosis congenita, autosomal recessive 2 NKX Asplenia isolated congenital NLRP Familial cold autoinflammatory syndrome 2 NLRP CINCA syndrome NOD Blau syndrome NOP Dyskeratosis congenita, autosomal recessive 1 NRAS Autoimmune lymphoproliferative syndrome type IV ORAI Immune dysfunction with T-cell inactivation due to calcium entry defect 1 PCCA Propionicacidemia PCCB Propionicacidemia PEPD Prolidase deficiency PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2 PIK3CD activated PI3K-delta syndrome PIK3R Agammaglobulinemia 7 autosomal recessive PLCG Autoinflammation antibody deficiency and immune dysregulation syndrome PLG Conjunctivitis ligneous PMM Congenital disorder of glycosylation type Ia PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency PRF Hemophagocytic lymphohistiocytosis familial 2 PRKDC PRPS Arts syndrome PSENEN Acne inversa familial 2 PSMB Autoinflammation lipodystrophy and dermatosis syndrome PSTPIP Pyogenic sterile arthritis pyoderma gangrenosum and acne PTPN LEOPARD syndrome 1 PTPRC Severe combined immunodeficiency T cell-negative B-cell/natural killer-cell positive PTRF Lipodystrophy congenital generalized type 4 RAB27A Griscelli syndrome type 2

7 RAC Neutrophil immunodeficiency syndrome RAG Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity RAG Combined cellular and humoral immune defects with granulomas RASGRP RBCK RECQL Baller-Gerold syndrome RFX Bare lymphocyte syndrome type II complementation group C RFXANK MHC class II deficiency complementation group B RFXAP Bare lymphocyte syndrome type II complementation group D RHOH RNASEH2A Aicardi-Goutieres syndrome 4 RNASEH2B Aicardi-Goutieres syndrome 2 RNASEH2C Aicardi-Goutieres syndrome 3 RNF RIDDLE syndrome RPSA Arrhythmogenic right ventricular dysplasia 5 RPSA isolated congenital asplenia (ICAS) RTEL Dyskeratosis congenita autosomal recessive 5 SAMHD Aicardi-Goutieres syndrome 5 SBDS Shwachman-Bodian-Diamond syndrome SERAC methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome SERPING Angioedema, hereditary, types I and II SERPING Complement component 4, partial deficiency of SH2D1A Lymphoproliferative syndrome X-linked SKIV2L Trichohepatoenteric syndrome 2 SLC35A Congenital disorder of glycosylation type IIf SLC35C Congenital disorder of glycosylation type IIc SLC37A Glycogen storage disease Ib SLC39A Acrodermatitis enteropathica SLC46A Folate malabsorption hereditary SMARCAL Schimke immunoosseous dysplasia SP Hepatic venoocclusive disease with immunodeficiency SPINK Atopy

8 STAT Candidiasis familial 7 STAT STAT Hyper-IgE recurrent infection syndrome STAT {Systemic lupus erythematosus, susceptitbility to, 11} STAT5B Growth hormone insensitivity with immunodeficiency STIM Immune dysfunction with T-cell inactivation due to calcium entry defect 2 STK T-cell immunodeficiency recurrent infections autoimmunity and cardiac malformations STX Hemophagocytic lymphohistiocytosis familial 4 STXBP Hemophagocytic lymphohistiocytosis familial 5 TAP Bare lymphocyte syndrome type I TAP Bare lymphocyte syndrome type I due to TAP2 deficiency TAPBP Bare lymphocyte syndrome type I TAZ Barth syndrome TBX Conotruncal anomaly face syndrome TCIRG Osteopetrosis autosomal recessive 1 TCN Transcobalamin II deficiency TERC Dyskeratosis congenita autosomal dominant 1 TERT {Bone marrow failure, telomere-related, 1} TERT {Dyskeratosis congenita} TERT {Leukemia, acute myeloid} THBD Thrombophilia due to thrombomodulin defect TICAM {Encephalopathy, acute, infection-induced, susceptibility to, 6} TINF Dyskeratosis congenita autosomal dominant 3 TLR {Herpes simplex encephalitis, susceptibility to, 2} TLR {HIV1 infection, resistance to} TMC Epidermodysplasia verruciformis TMC Epidermodysplasia verruciformis TNFRSF11A Osteolysis familial expansile TNFRSF13B Immunodeficiency common variable 2 TNFRSF13C Immunodeficiency common variable 4 TNFRSF1A Periodic fever familial TRAF {Herpes simplex encephalitis, susceptibility to, 3} TREX Aicardi-Goutieres syndrome 1 dominant and recessive

9 TTC Trichohepatoenteric syndrome 1 TYK Tyrosine kinase 2 deficiency UNC UNC13D Hemophagocytic lymphohistiocytosis familial 3 UNC93B Herpes simplex encephalitis susceptibility to 1 UNG Immunodeficiency with hyper IgM type 5 USB Poikiloderma with neutropenia VPS13B Cohen syndrome WAS Neutropenia severe congenital X-linked WIPF Wiskott-Aldrich syndrome 2 WRAP Dyskeratosis congenita autosomal recessive 3 XIAP Lymphoproliferative syndrome X-linked 2 ZAP Selective T-cell defect ZBTB Immunodeficiency-centromeric instability-facial anomalies syndrome-2 Gene symbols used follow HGCN guidelines Genomics 79(4): (2002) updated October 2013 Depth describes the average number of reads seen across 50 exomes Coverage describes the average coverage of a gene across 50 exomes in percentiles OMIM release used for OMIM disease identifiers and descriptions : 15 october 2013 Ad 1. OMIM identifier 200 signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors