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Immunology

Precise diagnosis of immune-related disorders is the basis for establishing life-changing treatment and management options. By leveraging CentoMD®, our robust mutation database for rare diseases, we carefully curate and document all variants that have clinical relevance for related symptoms – providing the most comprehensive diagnosis of immune-related diseases.

Bone marrow failure/anemia panel

Our bone marrow failure/anemia panel is intended for patients with abnormalities in more than 2 blood cell types (red blood cell, white blood cell, and platelets) who present symptoms of lethargy, recurrent infections, excessive bleeding, abnormal pigmentation, enlarged spleen, and malignancies. Some specific disorders detected with this panel are hemophagocytic lymphohistiocytosis, Seckel syndrome, thrombocytopenia, Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome as well as other types of anemias, such as thalassemia alpha and beta, sickle cell disease, spherocytosis, megaloblastic anemia, congenital sideroblastic, and dyserythropoietic anemia.

No. of genes:162
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABCB7 300135 Anemia, Sideroblastic, and Spinocerebellar Ataxia XLR
ACTN1 102575 Bleeding disorder, platelet-type, 15 AD
ADAMTS13 604134 thrombotic thrombocytopenic purpura AR
AK2 103020 Reticular dysgenesis AR
ALAS2 301300 X-linked sideroblastic anemia; Protoporphyria, erythropoietic, X-linked XL, XLR
AMN 605799 AR
ANK1 612641 Spherocytosis, type 1 AD, AR
ANKRD26 610855 thrombocytopenia type 2 AD
AP3B1 603401 Hermansky-Pudlak syndrome type 2 AR
ATM 607585 familial breast-ovarian cancer type 2; ataxia-telangiectasia AD, AR
ATRX 300032 Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked XLD, XLR
BLM 604610 Bloom syndrome AR
BLOC1S3 609762 Hermansky-Pudlak syndrome 8 AR
BRCA1 113705 familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S AD, AR
BRCA2 600185 familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 AD, AR
BRIP1 605882 familial breast-ovarian cancer type 2; Fanconi anemia of complementation group J AD
CASP10 601762 Autoimmune lymphoproliferative syndrome, type II; Lymphoma, non-Hodgkin; Gastric Cancer AD
CBL 165360 Leukemia, juvenile myelomonocytic; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia AD
CBLIF 609342 Intrinsic factor deficiency AR
CD36 173510 Platelet glycoprotein IV deficiency; resistance to malaria AR
CD40LG 300386 Immunodeficiency With Hyper-Igm, Type 1 XLR
CDAN1 607465 congenital dyserythropoietic anemia 1 AR
CDIN1 615626 congenital dyserythropoietic anemia 1b AR
CENPJ 609279 primary microcephaly 6; Seckel syndrome 4 AR
CEP152 613529 Seckel syndrome 5; primary microcephaly 9 AR
CLCN7 602727 Osteopetrosis, autosomal dominant 2; Osteopetrosis, autosomal recessive 4 AD, AR
CLPB 616254 3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia AR
CSF3R 138971 Neutropenia, severe congenital, 7, autosomal recessive AR
CTC1 613129 Cerebroretinal microangiopathy with calcifications and cysts AR
CUBN 602997 megaloblastic anemia 1 AR
CXCR4 162643 WHIM syndrome AD
CYB5R3 613213 methemoglobinemia type I AR
CYCS 123970 Thrombocytopenia 4 AD
DHFR 126060 AR
DIAPH1 602121 Deafness, autosomal dominant 1; Seizures, cortical blindness, microcephaly syndrome AD, AR
DKC1 300126 X-linked dyskeratosis congenita XLR
DTNBP1 607145 Hermansky-Pudlak syndrome 7 AR
ELANE 130130 Neutropenia, cyclic; Neutropenia, severe congenital 1, autosomal dominant AD
EPB42 177070 Spherocytosis, type 5
ERCC4 133520 xeroderma pigmentosum complementation group F; XFE prpgeroid syndroem; Fanconi anemia of complementation group Q AR
FANCA 607139 Fanconi anemia complementation group A AR
FANCB 300515 Fanconi anemia of complementation group B XLR
FANCC 613899 Fanconi anemia of complementation group C AR
FANCD2 613984 Fanconi anemia of complementation group D2 AR
FANCE 613976 Fanconi anemia of complementation group E AR
FANCF 613897 Fanconi anemia of complementation group F
FANCG 602956 Fanconi anemia of complementation group G
FANCI 611360 Fanconi anemia of complementation group I AR
FANCL 608111 Fanconi anemia of complementation group L AR
FANCM 609644 Spermatogenic failure 28 AR
FAS 134637 Autoimmune lymphoproliferative syndrome AD
FASLG 134638 Lung Cancer; Autoimmune lymphoproliferative syndrome AD
G6PC3 611045 Neutropenia, severe congenital 4, autosomal recessive AR
G6PD 305900 glucose-6-phosphate dehydrogenase deficiency; resistance to malaria XLD
GATA1 305371 X-linked congenital dyserythropoietic anemia with thrombocytopenia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; beta-thalassemia - X-linked thrombocytopenia XLR
GFI1 600871 Neutropenia, severe congenital 2, autosomal dominant AD
GFI1B 604383 Bleeding disorder, platelet-type, 17 AD, AR
GLRX5 609588 Anemia, sideroblastic, 3, pyridoxine-refractory AR
GNE 603824 Sialuria; Nonaka myopathy AD, AR
GP1BA 606672 Bernard-Soulier syndrome, type A2 (dominant); platelet type von Willebrand disease; Bernard-Soulier syndrome, type C AD, AR
GP1BB 138720 Bernard-Soulier syndrome, type C AR
GP9 173515 Bernard-Soulier syndrome, type C AR
GPI 172400 nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency AR
GSS 601002 Glutathione synthetase deficiency AR
HAX1 605998 autosomal recessive severe congenital neutropenia type 3 AR
HBA1 141800 Heinz Body Anemias; alpha-Thalassemia; Hemoglobin H Disease AD
HBA2 141850 Heinz Body Anemias; alpha-Thalassemia; Hemoglobin H Disease AD
HBB 141900 Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia AD, AR
HFE 613609 Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 AD, AR
HOXA11 142958 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 AD
HPS1 604982 Hermansky-Pudlak syndrome type 1 AR
HPS3 606118 Hermansky-Pudlak syndrome type 3 AR
HPS4 606682 Hermansky-Pudlak syndrome type 4 AR
HPS5 607521 Hermansky-Pudlak syndrome type 5 AR
HPS6 607522 Hermansky-Pudlak syndrome type 6 AR
HSPA9 600548 Sideroblastic anemia type 4 AD, AR
IL2RG 308380 Severe X-linked combined immunodeficiency; moderate X-linked combined immunodeficiency XLR
ITGA2B 607759 Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia AD, AR
ITGB3 173470 Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, decreased susceptibility to AD, AR
ITK 186973 Lymphoproliferative syndrome 1 AR
JAGN1 616012 Neutropenia, severe congenital, 6, autosomal recessive AR
KLF1 600599 Blood group--lutheran inhibitor; Fetal hemoglobin quantitative trait locus 6; Anemia, congenital dyserythropoietic, type iv AD
KRAS 190070 Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 AD
LIG4 601837 LIG4 syndrome AR
LPIN2 605519 Majeed syndrome
LYST 606897 Chediak-Higashi syndrome AR
MLH1 120436 Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 AD, AR
MPL 159530 somatic myelofibrosis with myeloid metaplasia; thrombocythemia type 2; congenital amegakaryocytic thrombocytopenia AD, AR
MRE11 600814 Ataxia-telangiectasia-like disorder type 1 AR
MSH2 609309 Lynch syndrome; Muir-Torre syndrome; mismatch repair cancer syndrome AD, AR
MSH6 600678 mismatch repair cancer syndrome; endometrial cancer; hereditary nonpolyposis colorectal cancer-5 AD, AR
MTR 156570 homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects AR
MTRR 602568 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; folate-sensitive neural tube defects AR
MYH9 160775 Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 AD
NBN 602667 Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia AR
NF1 613113 neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic AD
NHP2 606470 Dyskeratosis Congenita, Autosomal Recessive, 2 AR
NOP10 606471 Dyskeratosis Congenita, Autosomal Recessive, 1 AR
NRAS 164790 colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV AD
PALB2 610355 familial breast-ovarian cancer type 2; Fanconi anemia of complementation group N; Pancreatic cancer, susceptibility to, 3 AD
PARN 604212 Dyskeratosis congenita, autosomal recessive 6; telomere-related pulmonary fibrosis and/or bone marrow failure type 4 AD, AR
PC 608786 pyruvate carboxylase deficiency AR
PDHA1 300502 Pyruvate dehydrogenase E1-alpha deficiency XLD
PDHX 608769 Lacticacidemia due to PDX1 deficiency AR
PKLR 609712 pyruvate kinase deficiency AD, AR
PMS2 600259 mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-4 AR
PRF1 170280 familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin; Aplastic Anemia AR
PTPN11 176876 LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic AD
PUS1 608109 myopathy, lactic acidosis and sideroblastic anemia type 1 AR
RAC2 602049 Neutrophil immunodeficiency syndrome
RAD51C 602774 Fanconi anemia of complementation group O; Breast-ovarian cancer, familial, susceptibility to, 3 AR
RBBP8 604124 Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 AR
RBM8A 605313 Thrombocytopenia-absent radius syndrome AR
RIT1 609591 Noonan syndrome 8 AD
RPL11 604175 Diamond-Blackfan anemia 7 AD
RPL15 604174 Diamond-Blackfan anemia 12 AD
RPL26 603704 Diamond-Blackfan anemia 11 AD
RPL27 607526 AD
RPL35A 180468 Diamond-Blackfan anemia 5 AD
RPL5 603634 Diamond-Blackfan anemia 6 AD
RPS10 603632 Diamond-Blackfan anemia 9 AD
RPS17 180472 Diamond-Blackfan anemia 4 AD
RPS19 603474 Diamond-Blackfan anemia 1 AD
RPS24 602412 Diamond-blackfan anemia type 3 AD
RPS26 603701 Diamond-Blackfan anemia 10 AD
RPS27 603702 Diamond-Blackfan anemia 17 AD
RPS28 603685 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis AD
RPS29 603633 Diamond-Blackfan anemia 13 AD
RPS7 603658 Diamond-Blackfan anemia 8 AD
RTEL1 608833 dyskeratosis congenita; that telomere-related pulmonary fibrosis and/or bone marrow failure type 3 AD, AR
RUNX1 151385 Platelet disorder, familial, with associated myeloid malignancy; acute myeloid leukemia AD
SAMD9 610456 normophosphatemic familial tumoral calcinosis; MIRAGE syndrome AD, AR
SBDS 607444 Shwachman-Bodian-Diamond syndrome; Aplastic Anemia AR
SEC23B 610512 congenital dyserythropoietic anemia 2; Cowden syndrome 7 AD, AR
SH2D1A 300490 Lymphoproliferative Syndrome, X-Linked, 1 XLR
SLC19A2 603941 Thiamine-responsive megaloblastic anemia syndrome AR
SLC19A3 606152 biotin-thiamine-responsive basal ganglia disease AR
SLC25A19 606521 Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) AR
SLC25A38 610819 Anemia, sideroblastic, 2, pyridoxine-refractory AR
SLC4A1 109270 Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4 AD, AR
SLX4 613278 Fanconi anemia of complementation group P AR
SPTA1 182860 Elliptocytosis type 2; Pyropoikilocytosis; Spherocytosis, type 3 AD, AR
SPTB 182870 Spherocytosis, type 2; Elliptocytosis 3 AD
SRP72 602122 Bone marrow failure, familial AD
STIM1 605921 Myopathy, tubular aggregate, 1; Immunodeficiency 10 AD, AR
STX11 605014 Hemophagocytic lymphohistiocytosis, familial, 4 AR
STXBP2 601717 Hemophagocytic lymphohistiocytosis, familial, 5
TCN2 613441 Transcobalamin II deficiency AR
TERT 187270 acute myeloid leukemia; Dyskeratosis congenita 4; Bone marrow failure, telomere-related, 1 AD, AR
TINF2 604319 Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 AD
TP53 191170 familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Osteogenic Sarcoma; Pancreatic Cancer AD
TPK1 606370 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) AR
TRNT1 612907 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay AR
UBE2T 610538 Fanconi anemia of complementation group T AR
UNC13D 608897 familial hemophagocytic lymphohistiocytosis 3 AR
VPS13B 607817 Cohen syndrome AR
VPS45 610035 Severe congenital neutropenia type 5 AR
WAS 300392 Neutropenia, severe congenital, X-linked; Wiskott-Aldrich syndrome; Thrombocytopenia 1 XLR
WRAP53 612661 Autosomal recessive dyskeratosis congenita type 3 AR
XIAP 300079 X-linked lymphoproliferative disease 2 XLR
XRCC2 600375 Fanconi anemia, complementation group U AR
YARS2 610957 Myopathy, lactic acidosis, and sideroblastic anemia 2 AR

COMMON SYNDROMES AND DISORDERS COVERED

Bone marrow failure syndrome
Congenital dyserythropoietic anemia
Congenital sideroblastic anemia
Diamond-Blackfan anemia
Fanconi anemia
Hemophagocytic lymphohistiocytosis
Hereditary spherocytosis
Megaloblastic anemia
Seckel syndrome
Thrombocytopenia

CentoImmuno

CentoImmuno is our solution for immunodeficiency and severe combined immunodeficiency (SCID) disorders. Our panel includes genes targeting severe combined immunodeficiency, congenital neutropenia, primary antibody deficiency, common variable immune deficiency, chronic granulomatous disease, autoimmune lymphoproliferative, and agammaglobulinemia.

No. of genes:208
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ACTB 102630 Baraitser-Winter syndrome 1; Dystonia, juvenile-onset AD
ADA 608958 Adenosine deaminase deficiency AR
ADAR 146920 Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 AD, AR
AICDA 605257 Immunodeficiency with hyper-IgM, type 2 AR
AIRE 607358 Autoimmune polyendocrinopathy syndrome type I with or without reversible metaphyseal dysplasia AD, AR
AK2 103020 Reticular dysgenesis AR
AP3B1 603401 Hermansky-Pudlak syndrome type 2 AR
ARMC4 615408 primary ciliary dyskinesia, 23 AR
ATM 607585 familial breast-ovarian cancer type 2; ataxia-telangiectasia AD, AR
BLM 604610 Bloom syndrome AR
BLNK 604515 Agammaglobulinemia 4 AR
BLOC1S3 609762 Hermansky-Pudlak syndrome 8 AR
BTK 300300 X-linked agammaglobulinemia XLR
C3 120700 atypical hemolytic uremic syndrome 5; C3 deficiency AD, AR
CARD11 607210 Immunodeficiency 11B with atopic dermatitis AD, AR
CASP10 601762 Autoimmune lymphoproliferative syndrome, type II; Lymphoma, non-Hodgkin; Gastric Cancer AD
CASP8 601763 familial breast-ovarian cancer type 2; Hepatocellular Carcinoma; Lung Cancer AD, AR
CCDC103 614677 Ciliary dyskinesia, primary, 17 AR
CCDC114 615038 Ciliary dyskinesia, primary, 20 AR
CCDC151 615956 primary Ciliary dyskinesia type 30 AR
CCDC39 613798 Ciliary dyskinesia, primary, 14
CCDC40 613799 Ciliary dyskinesia, primary, 15
CCDC65 611088 Ciliary dyskinesia, primary, 27 AR
CCNO 607752 primary ciliary dyskinesia type 29 AR
CD19 107265 Immunodeficiency, common variable, 3 AR
CD247 186780 Immunodeficiency-25 AR
CD3D 186790 Immunodeficiency 19 AR
CD3E 186830 Immunodeficiency 18 AR
CD3G 186740 AR
CD40 109535 Immunodeficiency with hyper-IgM, type 3 AR
CD40LG 300386 Immunodeficiency With Hyper-Igm, Type 1 XLR
CD46 120920 atypical hemolytic uremic syndrome 2 AD, AR
CD59 107271 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy AR
CD79A 112205 Agammaglobulinemia 3 AR
CD79B 147245 Agammaglobulinemia 6 AR
CD81 186845 Immunodeficiency, common variable, 6 AR
CFAP298 615494 primary ciliary dyskinesia type 26 AR
CFH 134370 atypical hemolytic uremic syndrome 1; Complement factor H deficiency AD, AR
CFI 217030 Complement factor I deficiency; atypical hemolytic uremic syndrome 3 AD, AR
CFTR 602421 hereditary pancreatitis; Bronchiectasis with or without elevated sweat chloride type 1; cystic fibrosis; congenital bilateral absence of vas deferens AD, AR
CHD7 608892 CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia AD
CLCN7 602727 Osteopetrosis, autosomal dominant 2; Osteopetrosis, autosomal recessive 4 AD, AR
CLPB 616254 3-methylglutaconic aciduria type VII with cataracts, neurologic involvement and neutropenia AR
CORO1A 605000 AR
CR2 120650 Systemic Lupus Erythematosus, Susceptibility To, 9; Immunodeficiency, common variable, 7 AR
CSF2RB 138981 Surfactant metabolism dysfunction, pulmonary, 5 AR
CSF3R 138971 Neutropenia, severe congenital, 7, autosomal recessive AR
CTC1 613129 Cerebroretinal microangiopathy with calcifications and cysts AR
CTLA4 123890 systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome, type V AD
CTPS1 123860 AR
CTSC 602365 Papillon-Lefevre syndrome AR
CXCR4 162643 WHIM syndrome AD
CYBA 608508 Chronic granulomatous disease, autosomal, due to deficiency of CYBA AR
CYBB 300481 chronic granulomatous disease XLR
DCLRE1C 605988 severe combined immunodeficiency, Athabascan type; Omenn syndrome AR
DGKE 601440 Nephrotic syndrome, type 7 AR
DKC1 300126 X-linked dyskeratosis congenita XLR
DNAAF1 613190 Ciliary dyskinesia, primary, 13 AR
DNAAF2 612517 Ciliary dyskinesia, primary, 10
DNAAF3 614566 Ciliary dyskinesia, primary, 2 AR
DNAAF4 608706 Ciliary dyskinesia, primary, 25 AD, AR
DNAAF5 614864 Ciliary dyskinesia, primary, 18 AR
DNAH11 603339 primary ciliary dyskinesia type 7, with or without situs inversus AR
DNAH5 603335 primary ciliary dyskinesia type 3, with or without situs inversus
DNAI1 604366 primary ciliary dyskinesia type 1, with or without situs inversus AR
DNAI2 605483 primary ciliary dyskinesia type 9, with or without situs inversus
DNAL1 610062 Ciliary dyskinesia, primary, 16 AR
DOCK8 611432 Hyper-IgE recurrent infection syndrome, autosomal recessive AR
DRC1 615288 primary ciliary dyskinesia, 21 AR
DTNBP1 607145 Hermansky-Pudlak syndrome 7 AR
ELANE 130130 Neutropenia, cyclic; Neutropenia, severe congenital 1, autosomal dominant AD
FADD 602457 recurrent infections with encephalopathy, hepatic dysfunction and cardiovasuclar malformations AR
FAS 134637 Autoimmune lymphoproliferative syndrome AD
FASLG 134638 Lung Cancer; Autoimmune lymphoproliferative syndrome AD
FGA 134820 Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital AD, AR
FGB 134830 Afibrinogenemia, congenital; Dysfibrinogenemia, congenital AR
FGG 134850 Afibrinogenemia, congenital; Dysfibrinogenemia, congenital AR
FOXN1 600838 T-cell immunodeficiency, congenital alopecia, and nail dystrophy AR
FOXP3 300292 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked XLR
G6PC3 611045 Neutropenia, severe congenital 4, autosomal recessive AR
G6PD 305900 glucose-6-phosphate dehydrogenase deficiency; resistance to malaria XLD
GFI1 600871 Neutropenia, severe congenital 2, autosomal dominant AD
HAX1 605998 autosomal recessive severe congenital neutropenia type 3 AR
HPS1 604982 Hermansky-Pudlak syndrome type 1 AR
HPS3 606118 Hermansky-Pudlak syndrome type 3 AR
HPS4 606682 Hermansky-Pudlak syndrome type 4 AR
HPS5 607521 Hermansky-Pudlak syndrome type 5 AR
HPS6 607522 Hermansky-Pudlak syndrome type 6 AR
HYDIN 610812 primary ciliary dyskinesia type 5 AR
ICOS 604558 Immunodeficiency, common variable, 1 AR
IFIH1 606951 Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 AD
IFNGR1 107470 immunodeficiency-27A; Mycobacterium Tuberculosis, Susceptibility To; immunodeficiency-27B AD, AR
IFNGR2 147569 immunodeficiency-28 AR
IGLL1 146770 Agammaglobulinemia 2 AR
IKBKB 603258 AD, AR
IKBKG 300248 Incontinentia pigmenti, type II XLD, XLR
IKZF1 603023 AD
IL12B 161561 Immunodeficiency 29, mycobacteriosis AR
IL12RB1 601604 Immunodeficiency 30 AR
IL12RB2 601642
IL1RN 147679 Gastric Cancer, Hereditary Diffuse; Microvascular complications of diabetes, susceptibility to, 4; Osteomyelitis, sterile multifocal, with periostitis and pustulosis AD, AR
IL21R 605383 Immunodeficiency type 56 AD, AR
IL2RA 147730 Diabetes mellitus, insulin-dependent, 10; Immunodeficiency 41 with lymphoproliferation and autoimmunity AR
IL2RG 308380 Severe X-linked combined immunodeficiency; moderate X-linked combined immunodeficiency XLR
IL7R 146661 Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive AR
IRF8 601565 Immunodeficiency 32A, mycobacteriosis, autosomal dominant AD, AR
ISG15 147571 Immunodeficiency 38 AR
ITK 186973 Lymphoproliferative syndrome 1 AR
JAGN1 616012 Neutropenia, severe congenital, 6, autosomal recessive AR
JAK3 600173 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative AR
KRAS 190070 Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 AD
LAMTOR2 610389 AR
LIG4 601837 LIG4 syndrome AR
LPIN2 605519 Majeed syndrome
LRBA 606453 Immunodeficiency, common variable, 8, with autoimmunity AR
LRRC6 614930 Ciliary dyskinesia, primary, 19 AR
LRRC8A 608360 Agammaglobulinemia 5 AD
LYST 606897 Chediak-Higashi syndrome AR
MAGT1 300715 Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia XLR
MALT1 604860 Immunodeficiency 12 AR
MCM4 602638 Natural killer cell and glucocorticoid deficiency with DNA repair defect AR
MEFV 608107 autosomal dominant familial Mediterranean fever; autosomal recessive familial Mediterranean fever AD, AR
MOGS 601336 congenital disorder of glycosylation type 2b AR
MS4A1 112210 Immunodeficiency, common variable, 5 AR
MVK 251170 Porokeratosis 3, Disseminated Superficial Actinic Type; Hyper-IgD syndrome; Mevalonic aciduria AD, AR
NBN 602667 Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia AR
NCF1 608512 Chronic granulomatous disease due to deficiency of NCF-1 AR
NCF2 608515 Chronic granulomatous disease due to deficiency of NCF-2 AR
NCF4 601488 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III AR
NFKB2 164012 Common variable Immunodeficiency type 10 AD
NFKBIA 164008 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency AD
NHEJ1 611290 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHP2 606470 Dyskeratosis Congenita, Autosomal Recessive, 2 AR
NLRC4 606831 Autoinflammation with infantile enterocolitis AD
NLRP12 609648 Familial cold autoinflammatory syndrome 2 AD
NLRP3 606416 Familial Cold Autoinflammatory Syndrome 1; Muckle-Wells syndrome; CINCA syndrome AD
NME8 607421 Ciliary dyskinesia, primary, 6 AR
NOD2 605956 Blau syndrome; Inflammatory Bowel Disease 1 AD
NOP10 606471 Dyskeratosis Congenita, Autosomal Recessive, 1 AR
NRAS 164790 colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV AD
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
PARN 604212 Dyskeratosis congenita, autosomal recessive 6; telomere-related pulmonary fibrosis and/or bone marrow failure type 4 AD, AR
PEPD 613230 Prolidase deficiency AR
PIK3CD 602839 Immunodeficiency 14 AD
PIK3R1 171833 SHORT syndrome; Immunodeficiency 36 AD, AR
PLCG2 600220 Familial cold autoinflammatory syndrome 3 AD
PNP 164050 Purine nucleoside phosphorylase deficiency AR
POLE 174762 Colorectal cancer, susceptibility to, 12; FILS syndrome AD, AR
PRF1 170280 familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin; Aplastic Anemia AR
PRKCD 176977 Autoimmune lymphoproliferative syndrome, type III AR
PSTPIP1 606347 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne AD
PTPRC 151460 Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive; Hepatitis C Virus, Susceptibility To AR
RAB27A 603868 Griscelli syndrome, type 2 AR
RAC2 602049 Neutrophil immunodeficiency syndrome
RAG1 179615 Combined cellular and humoral immune defects with granulomas; t cell-negative, b cell-negative, nk cell-positive autosomal recessive severe combined immunodeficiency; Omenn syndrome; Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection and autoimmunity AR
RAG2 179616 Combined cellular and humoral immune defects with granulomas; t cell-negative, b cell-negative, nk cell-positive autosomal recessive severe combined immunodeficiency; Omenn syndrome AR
RANBP2 601181 acute infection-induced encephalopathy-3 AD
RBCK1 610924 Polyglucosan body myopathy 1 with or without immunodeficiency AR
RFX5 601863 MHC class II deficiency, complementation group B AR
RNASEH2A 606034 Aicardi-Goutieres syndrome type 4 AR
RNASEH2B 610326 Aicardi-Goutieres syndrome type 2 AR
RNASEH2C 610330 Aicardi-Goutieres syndrome 3 AR
RORC 602943 AR
RSPH1 609314 primary ciliary dyskinesia, 24 AR
RSPH4A 612647 Ciliary dyskinesia, primary, 11
RSPH9 612648 Ciliary dyskinesia, primary, 12
RTEL1 608833 dyskeratosis congenita; that telomere-related pulmonary fibrosis and/or bone marrow failure type 3 AD, AR
SAMD9 610456 normophosphatemic familial tumoral calcinosis; MIRAGE syndrome AD, AR
SAMHD1 606754 Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 AD, AR
SBDS 607444 Shwachman-Bodian-Diamond syndrome; Aplastic Anemia AR
SERPING1 606860 hereditary angioedema type 1 AD, AR
SH2D1A 300490 Lymphoproliferative Syndrome, X-Linked, 1 XLR
SLC35C1 605881 Congenital disorder of glycosylation, type IIc AR
SLC7A7 603593 Lysinuric protein intolerance AR
SPAG1 603395 Primary Ciliary dyskinesia type 28 AR
SPINK5 605010 Netherton syndrome AR
SRP72 602122 Bone marrow failure, familial AD
STAT1 600555 Autosomal recessive Immunodeficiency 31B, mycobacterial and viral infections; Immunodeficiency 31C, autosomal dominant AD, AR
STAT3 102582 Hyper-IgE recurrent infection syndrome; infantile-onset multisystem autoimmune disease, 1 AD
STAT5B 604260 Growth hormone insensitivity with immunodeficiency
STIM1 605921 Myopathy, tubular aggregate, 1; Immunodeficiency 10 AD, AR
STING1 612374 STING-associated vasculopathy, infantile-onset AD
STX11 605014 Hemophagocytic lymphohistiocytosis, familial, 4 AR
STXBP2 601717 Hemophagocytic lymphohistiocytosis, familial, 5
TAZ 300394 Barth syndrome XLR
TBX1 602054 Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations AD
TCN2 613441 Transcobalamin II deficiency AR
TERT 187270 acute myeloid leukemia; Dyskeratosis congenita 4; Bone marrow failure, telomere-related, 1 AD, AR
THBD 188040 atypical hemolytic uremic syndrome 6 AD
TICAM1 607601 AD, AR
TINF2 604319 Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 AD
TLR3 603029 Human Immunodeficiency Virus Type 1, Susceptibility To; Herpes simplex encephalitis, susceptibility to, 2 AD, AR
TNFRSF13B 604907 Immunodeficiency, common variable, 2; Immunoglobulin a deficiency 2 AD, AR
TNFRSF13C 606269 Immunodeficiency, common variable, 4 AR
TNFRSF1A 191190 Periodic fever, familial AD
TREX1 606609 systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 AD, AR
TRNT1 612907 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay AR
TTC7A 609332 Gastrointestinal defects and immunodeficiency syndrome AR
TYK2 176941 Tyrosine kinase 2 deficiency AR
UNC13D 608897 familial hemophagocytic lymphohistiocytosis 3 AR
UNG 191525 Immunodeficiency with hyper IgM, type 5 AR
VPS13B 607817 Cohen syndrome AR
VPS45 610035 Severe congenital neutropenia type 5 AR
WAS 300392 Neutropenia, severe congenital, X-linked; Wiskott-Aldrich syndrome; Thrombocytopenia 1 XLR
WRAP53 612661 Autosomal recessive dyskeratosis congenita type 3 AR
XIAP 300079 X-linked lymphoproliferative disease 2 XLR
ZAP70 176947 Selective T-cell defect AR
ZMYND10 607070 primary ciliary dyskinesia, 22 AR

COMMON SYNDROMES AND DISORDERS COVERED

Agammaglobulinemia
Autoimmune lymphoproliferative syndrome
B-cell-negative severe combined immunodeficiency
B-cell-positive severe combined immunodeficiency
Chronic granulomatous disease
Common variable immune deficiency
Congenital afibrinogenemia
Congenital neutropenia syndromes
Hermasky-Pudlak syndrome
Mendelian susceptibility to mycobacterial diseases
Periodic fever syndrome
Primary antibody deficiency
Primary ciliary dyskinesia
Primary immunodeficiencies (PID)
Severe combined immunodeficiency

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