Genomics Precision Diagnostic > Immunology Precision Panel > Primary Immunodeficiency Precision Panel

Высокоточная генетическая панель для выявления первичного иммунодефицита

Первичные иммунодефициты – это растущая группа, насчитывающая более 400 врожденных нарушений иммунитета, которые варьируются по степени тяжести от опасных для жизни заболеваний, проявляющихся в младенчестве, до менее тяжелых нарушений, диагностируемых во взрослом возрасте. Большинство пациентов с первичным иммунодефицитом имеют рецидивирующие или хронические инфекции.

Общая информация

Первичные иммунодефициты – это растущая группа, насчитывающая более 400 врожденных нарушений иммунитета, которые варьируются по степени тяжести от опасных для жизни заболеваний, проявляющихся в младенчестве, до менее тяжелых нарушений, диагностируемых во взрослом возрасте. Большинство пациентов с первичным иммунодефицитом имеют рецидивирующие или хронические инфекции. Некоторые расстройства влияют на основные иммунологические пути и приводят к восприимчивости к условно-патогенным микроорганизмам, тогда как другие расстройства могут вызывать восприимчивость к очень небольшому количеству патогенов с широким возрастом проявления. Клинические проявления разнообразны и включают тяжелые или необычные инфекции, аутоиммунные заболевания и злокачественные новообразования. Пациенты со многими формами первичных иммунодефицитов подвержены повышенному риску злокачественных новообразований, вторичных по отношению к ряду различных факторов, включая нарушение иммунной регуляции, генетическую предрасположенность, чувствительность к радиации и нарушение клиренса вирусов.
Генетическая панель Igenomix для выявления первичного иммунодефецита может быть инструментом для точной и направленной диагностики, а также для дифференциальной диагностики рецидивирующих бактериальных инфекций, что в конечном итоге приводит к лучшему лечению и прогнозу заболевания. Исследование обеспечивает всесторонний анализ соответствующих генов с использованием секвенирования нового поколения (NGS).

Показания

Панель Igenomix для выявления первичного иммунодефецита используется для пациентов с клиническим подозрением или диагнозом со следующими симптомами:
- Частая и рецидивирующая пневмония, бронхит, инфекции носовых пазух, инфекции уха, менингит или кожные инфекции
- Воспаление и инфекция внутренних органов
- Заболевания крови
- Проблемы с пищеварением, такие как спазмы, потеря аппетита, тошнота и диарея.
- Задержка роста и развития
- Аутоиммунные расстройства
- Семейный анамнез первичного иммунодефицита

Клиническое значение

Клиническое значение данной панели:

Точное молекулярно-генетическое подтверждение клинического диагноза у пациента.
Раннее начало противомикробной профилактики с помощью антибактериальных, противогрибковых средств, быстрое распознавание и лечение инфекций, а также агрессивное лечение инфекционных осложнений. Раннее непрерывное наблюдение в связи с повышенным риском злокачественных новообразований.
Возможность раннего иммунологического восстановления в форме трансплантации гемопоэтических клеток, замены ферментов, трансплантации тимуса или генной терапии.
Оценка статуса носительства и генетическое консультирование бессимптомных членов семьи.
Точное определене корреляции генотип-фенотип.

Гены и заболевания

Все гены и заболевания

ГЕН	ЗАБОЛЕВАНИЕ (OMIM)	ТИП НАСЛЕДОВАНИЯ*	% ПОКРЫТИЯ ГЕНА (20X)	HGMD**
*ACD*	Dyskeratosis Congenita, Familial Melanoma, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.89	14 of 14
*ACP5*	Immunodeficiency Autoimmunity, Spondyloen- chondrodysplasia	AR	100	27 of 28
*ACTB*	Baraitser– Winter Syndrome, Dystonia, Becker Nevus Syndrome, Developmental Malformations, Deafness	AD	100	40 of 40
*ADA*	Immunodeficiency, Omenn Syndrome	AR	100	97 of 98
*ADA2*	Polyarteritis Nodosa, Sneddon Syndrome, Blackfan– Diamond Anemia	AR	100	–
*AGL*	Glycogen Storage Disease	AR	100	253 of 253
*AICDA*	Immunodeficiency	AR	99.94	48 of 48
*AK2*	Reticular Dysgenesis	AR	100	21 of 21
*AKT1*	Breast Cancer, Colorectal Cancer, Cowden Syndrome, Proteus Syndrome, Meningioma	AD	100	6 of 6
*ANTXR2*	Systemic Hyalinosis	AR	99.96	53 of 53
*AP3D1*	Hermansky- Pudlak Syndrome, Ocular Albinism	AR	99.69	5 of 5
*ARHGEF1*	Immunodeficiency	AR	90.23	2 of 2
*ARVCF*	22q11.2 Deletion Syndrome	–	99.95	2 of 2
*ATM*	Ataxia- Telangiectasia, Breast Cancer, Mantle Cell Lymphoma	AD,AR	99.93	1608 of 1632
*ATP6AP1*	Immunodeficiency	X,XR,G	99.2	–
*ATRX*	Mental Retardation, Alpha- Thalassemia- Myelodysplastic Syndrome, Carpenter- Waziri Syndrome, Chudley– Lowry- Hoar Syndrome, Holmes- Gang Syndrome, Juberg- Marsidi Syndrome, Neuroendocrine Tumor Of Stomach, Smith-Fineman- Myers Syndrome	X,XR,XD,G	98.5	–
*BACH2*	Immunodeficiency	AD	99.89	2 of 2
*BCL10*	Immunodeficiency, Lymphoma Non-Hodgkin, Mesothelioma, Testicular Tumor, Malt Lymphoma	AR	99.47	1 of 1
*BCL11B*	Immunodeficiency, Intellectual Developmental Disorder, Speech Delay, Dysmorphic Facies, T-Cell Abnormalities	AD	96.06	12 of 12
*BCR*	Chronic Myeloid Leukemia, 22q11.2 Microdeletion Syndrome	MU,P	97.78	–
*BLNK*	Agamma- globulinemia	AR	97.97	6 of 6
*BTK*	Agamma- globulinemia, Hypogamma- globulinemia, Growth Hormone Deficiency	X,XR,G	100	–
*BUB1B*	Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome	AD,AR	99.84	30 of 31
*CARD11*	Immunodeficiency, Atopic Dermatitis	AD,AR	100	30 of 31
*CARD9*	Candidiasis, Immunodeficiency	AR	99.86	34 of 34
*CARMIL2*	Immunodeficiency	AR	96.16	–
*CCDC47*	Trichohepatoneuro- developmental Syndrome	AR	99.94	5 of 5
*CD19*	Immunodeficiency	AD,AR	99.99	7 of 7
*CD247*	Immunodeficiency, Oligoarticular Idiopathic Arthritis	AR	100	4 of 4
*CD28*	Mycosis Fungoides, Sézary Syndrome	–	99.03	–
*CD3D*	Immunodeficiency	AR	100	7 of 7
*CD3E*	Immunodeficiency	AR	99.95	9 of 9
*CD3G*	Immunodeficiency	AR	100	3 of 3
*CD40*	Immunodeficiency	AR	100	11 of 11
*CD40LG*	Immunodeficiency	X,XR,G	100	–
*CD79A*	Agamma- globulinemia	AR	99.99	8 of 8
*CD79B*	Agamma- globulinemia	AR	100	3 of 3
*CD81*	Immunodeficiency	AR	100	2 of 2
*CDC42*	Takenouchi- Kosaki Syndrome, Macrothro- mbocytopenia, Lymphedema	AD	99.97	10 of 10
*CDCA7*	Immunodeficiency, Centromeric Instability, Icf Syndrome	AR	99.89	6 of 6
*CDH23*	Deafness, Pituitary Adenoma, Usher Syndrome, Cushing Disease, Prolactinoma	AD,AR	98	400 of 403
*CFTR*	Bronchiectasis , Cystic Fibrosis, Pancreatitis, Aplasia Of Vas Deferens, Cystic Fibrosis, Male Infertility	AD,AR	95.45	1615 of 1730
*CHD1*	Pilarowski- Bjornsson Syndrome, Intellectual Disability, Autism, Speech Apraxia, Craniofacial Dysmorphism	AD	99.06	8 of 8
*CHD7*	Charge Syndrome, Hypogonadotropic Hypogonadism , Kallmann Syndrome, Omenn Syndrome	AD	96.25	823 of 896
*CIITA*	Bare Lymphocyte Syndrome, Rheumatoid Arthritis, Immunodeficiency	AR	98.51	15 of 16
*CLCA4*	Cystic Fibrosis	–	97.66	–
*COMT*	Panic Disorder, Schizophrenia, 22q11.2 Deletion Syndrome	AD	99.98	5 of 5
*CORO1A*	Immunodeficiency	AR	93	9 of 9
*CPLX1*	Myoclonic Epilepsy, Epileptic Encephalopathy, Wolf- Hirschhorn Syndrome	AD,AR	99.81	3 of 3
*CR2*	Immunodeficiency	AD,AR	99.92	19 of 19
*CREBBP*	Menke- Hennekam Syndrome, Rubinstein- Taybi Syndrome	AD	100	318 of 318
*CRKL*	22q11.2 Microdeletion Syndrome	–	99.93	5 of 6
*CTBP1*	Hypotonia, Ataxia, Developmental Delay, Tooth Enamel Defect Wolf-Hirschhorn Syndrome	AD	98.45	1 of 1
*CTC1*	Cerebroretinal Microangiopathy, Dyskeratosis Congenita	AR	99.73	43 of 44
*CTLA4*	Autoimmune Lymphoproliferative Syndrome, Hashimoto Thyroiditis, Lupus Erythematosus, Mycosis Fungoides, Granulomatosis, Polyangiitis, Sézary Syndrome	AD	99.97	60 of 60
*CTPS1*	Immunodeficiency	AR	100	4 of 4
*CUL4B*	Mental Retardation, Short Stature, Small Testes, Musclewasting, Tremor	X,XR,G	99.77	–
*CYBA*	Granulomatous Disease	AR	99.98	67 of 67
*CYBB*	Mycobacteriosis, Chronic Granulomatous Disease	X,XR,G	100	–
*DCLRE1C*	Omenn Syndrome, Immunodeficiency	AR	99.99	72 of 73
*DCTN4*	Cystic Fibrosis	–	100	1 of 1
*DKC1*	Dyskeratosis Congenita, Hoyeraal- Hreidarsson Syndrome	X,XR,G	100	–
*DNAJC21*	Bone Marrow Failure Syndrome, Shwachman– Diamond Syndrome	AR	99.83	12 of 12
*DNMT3B*	Immunodeficiency, Centromeric Instability, Faciosca- pulohumeral Dystrophy, Icf Syndrome	AR	100	59 of 59
*DOCK2*	Immunodeficiency	AR	100	11 of 11
*DOCK8*	Hyperimmu- noglobulin-E Recurrent Infection Syndrome, Combined Immunodeficiency	AR	99.92	106 of 114
*EFL1*	Shwachman- Diamond Syndrome	AR	99.94	–
*EP300*	Colorectal Cancer, Menke- Hennekam Syndrome, Rubinstein- Taybi Syndrome	AD	100	109 of 109
*EPG5*	Immunodeficiency, Cleft Lip/Palate, Cataract, Hypopigmentation, Absent Corpus Callosum, Vici Syndrome	AR	98.98	73 of 73
*EXTL3*	Immunoskeletal Dysplasia, Neurodevelopmental Abnormalities, T-Cell Immunodeficiency	AR	99.99	10 of 10
*FADD*	Infections, Encephalopathy, Hepatic Dysfunction, Cardiovascular Malformations, Fadd-Related Immunodeficiency	AR	95.19	3 of 3
*FCGR3A*	Immunodeficiency	AR	99.63	1 of 1
*FCN3*	Immunodeficiency	AR	99.98	1 of 1
*FGFRL1*	Wolf-Hirschhorn Syndrome	AD	99.94	1 of 1
*FOXN1*	T-Cell Immunodeficiency, T-Cell Lymphopenia, Nail Dystrophy	AD,AR	100	30 of 30
*FRAS1*	Fraser Syndrome	AR	98.73	57 of 58
*GATA1*	Anemia, Neutropenia, Platelet Abnormalities, Down Syndrome, Dyserythropoietic Anemia, Thrombocytopenia, Hemolysis, Beta- Thalassemia, Blackfan– Diamond Anemia, Erythropoietic Porphyria	X,XR,G	99.93	–
*GATA2*	Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, Leukemia, Lymphedema, Myelodysplastic Syndrome	AD	100	137 of 142
*GINS1*	Immunodeficiency	AR	99.87	5 of 5
*GP1BB*	Bernard-Soulier Syndrome, 22q11.2 Deletion Syndrome, Fetal And Neonatal Alloimmune Thrombocytopenia	AR	74.08	26 of 50
*HBB*	Alpha- Thalassemia, Beta- Thalassemia, Fetal Hemoglobin Quantitative Trait Locus, Heinz Body Anemias, Sickle Cell Anemia	AD,AR	100	753 of 789
*HELLS*	Immunodeficiency, Centromeric Instability, Facial Anomalies, Icf Syndrome	AR	99.48	7 of 7
*HIRA*	22q11.2 Deletion Syndrome	–	99.99	5 of 5
*HYOU1*	Immunodeficiency, Hypoglycemia	AR	99.94	2 of 2
*ICOS*	Immunodeficiency	AD,AR	100	4 of 5
*IFNAR2*	Immunodeficiency	AR	99.78	2 of 2
*IFNG*	Aplastic Anemia, Immunodeficiency, Mycobacteriosis, Tuberous Sclerosis	AD,AR	99.77	–
*IFNGR1*	Helicobacter Pylori Infection, Immunodeficiency	AD,AR	99.99	46 of 46
*IFNGR2*	Immunodeficiency	AR	96.6	18 of 20
*IGHM*	Agamma- globulinemia	AR	100	–
*IGLL1*	Agamma- globulinemia	AR	100	2 of 2
*IKBKB*	Immunodeficiency	AD,AR	100	9 of 9
*IKBKG*	Ectodermal Dysplasia, Immunodeficiency, Incontinentia Pigmenti	X,XR,XD,G	38.16	–
*IKZF1*	Immunodeficiency, Stevens-Johnson Syndrome	AD	99.98	43 of 43
*IL12B*	Immunodeficiency, Takayasu Arteritis	AR	100	12 of 12
*IL12RB1*	Immunodeficiency, Biliary Cholangitis	AR	99.94	92 of 96
*IL21*	Immunodeficiency	AR	99.73	1 of 1
*IL21R*	Immunodeficiency	AR	99.97	10 of 10
*IL2RA*	Diabetes Mellitus, Interleukin 2 Receptor Deficiency, Oligoarticular Idiopathic Arthritis	AR	100	9 of 9
*IL2RB*	Immunodeficiency, Lymphoproliferation, Autoimmunity, Oligoarticular Idiopathic Arthritis	AR	94.56	6 of 6
*IL2RG*	Immunodeficiency, Omenn Syndrome	X,XR,G	99.86	–
*IL7R*	Immunodeficiency, Omenn Syndrome	AR	100	54 of 55
*IRAK4*	Immunodeficiency	AR	99.96	27 of 28
*IRF2BP2*	Immunodeficiency, Promyelocytic Leukemia	AD	86.22	1 of 2
*IRF7*	Immunodeficiency	AR	99.97	3 of 3
*IRF8*	Immunodeficiency, Mendelian Susceptibility To Mycobacterial Diseases	AD,AR	100	9 of 9
*IRF9*	Immunodeficiency	AR	100	5 of 5
*ISG15*	Immunodeficiency	AR	100	3 of 3
*IVNS1ABP*	Immunodeficiency	AD	99.83	–
*JAK3*	Immunodeficiency	AR	99.98	86 of 88
*JMJD1C*	22q11.2 Deletion Syndrome	–	99.09	27 of 27
*KLLN*	Cowden Syndrome	–	97.52	9 of 9
*KNSTRN*	Immunodeficiency, Faciooculoskeletal Anomalies	–	99.98	–
*LAMTOR2*	Immunodeficiency	AR	100	1 of 1
*LAT*	Immunodeficiency	AR	100	3 of 3
*LCK*	Immunodeficiency	AR	99.99	4 of 4
*LETM1*	Wolf- Hirschhorn Syndrome	AD	98.2	2 of 2
*LIG4*	Lig4 Syndrome, Multiple Myeloma, Dubowitz Syndrome, Omenn Syndrome	AR	99.48	46 of 46
*LMNB2*	Barraquer– Simons Syndrome, Epilepsy, Lipodystrophy	AD,AR	95.03	5 of 5
*LRBA*	Immunodeficiency, Autoimmunity	AR	99.91	79 of 81
*LRRC8A*	Agamma- globulinemia	AD	100	2 of 2
*LYST*	Chediak- Higashi Syndrome	AR	99.98	117 of 117
*MAGT1*	Congenital Disorder Of Glycosylation, Immunodeficiency	X,XR,G	100	–
*MALT1*	Immunodeficiency, Malt Lymphoma	AR	95.76	9 of 9
*MAN2B1*	Mannosidosis, Alpha- Mannosidosis	AR	100	149 of 149
*MAPK1*	Distal 22q11.2 Microdeletion Syndrome	–	96.91	1 of 1
*MBTPS2*	Ichthyosis Follicularis, Atrichia, Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta, Palmoplantar Keratoderma, Bresek Syndrome	X,XR,G	100	–
*MEIS2*	Cleft Palate, Mental Retardation, 15q14 Microdeletion Syndrome	AD	92	18 of 20
*MMUT*	Methylmalonic Aciduria, Vitamin B12- Unresponsive Methylmalonic Acidemia	AR	99.97	–
*MRTFA*	Immunodeficiency	AR	99.8	–
*MS4A1*	Immunodeficiency	AR	100	2 of 2
*MSN*	Immunodeficiency	X,XR,G	99.98	–
*MTHFD1*	Immunodeficiency, Megaloblastic Anemia, Hyperho- mocysteinemia, Neural Tube Defects	AR	99.94	11 of 12
*MYC*	Burkitt Lymphoma	–	99.3	2 of 2
*MYD88*	Immunodeficiency, Macroglobulinemia, Waldenstrom Macroglobulinemia	AR	99.55	7 of 7
*MYSM1*	Bone Marrow Failure Syndrome, B-Cell Immunodeficiency, Skeletal Dysplasia	AR	98.5	4 of 4
*NBN*	Aplastic Anemia, Leukemia, Nijmegen Breakage Syndrome, Breast And Ovarian Cancer	AR,MU,P	100	200 of 200
*NCF1*	Granulomatous Disease	AR	74.19	31 of 39
*NCF2*	Granulomatous Disease	AR	100	72 of 73
*NCKAP1L*	Immunodeficiency	AR	100	–
*NFE2L2*	Immunodeficiency, Developmental Delay, Hypoho- mocysteinemia	AD	97.24	7 of 7
*NFKB1*	Immunodeficiency	AD	99.98	38 of 41
*NFKB2*	Immunodeficiency, Deficiency In Anterior Pituitary Function	AD	100	22 of 22
*NFKBIA*	Ectodermal Dysplasia, T-Cell Immunodeficiency	AD	99.98	13 of 13
*NHEJ1*	Cernunnos- Xlf Deficiency	–	100	12 of 14
*NHP2*	Dyskeratosis Congenita	AR	100	3 of 3
*NOP10*	Dyskeratosis Congenita	AR	100	1 of 1
*NPM1*	Leukemia, Dyskeratosis Congenita	AD	99.89	2 of 2
*NSD2*	Wolf-Hirschhorn Syndrome	AD	99.91	–
*NSMCE3*	Lung Disease, Immunodeficiency	AR	99.8	–
*ORAI1*	Immunodeficiency, Stormorken- Sjaastad- Langslet Syndrome, Tubular Aggregate Myopathy	AD,AR	91.93	20 of 22
*PARN*	Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.98	33 of 33
*PGM3*	Immunodeficiency, Congenital Disorder Of Glycosylation	AR	99.99	17 of 17
*PIK3CA*	Multiple Cancer Types, Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Partial Or Generalized Overgrowth, Cowden Syndrome, Epidermal Nevus, Keratosis, Macrocephaly, Megalodactyly, Hemihyperplasia, Lynch Syndrome, Megalencephaly	AD	99.58	54 of 58
*PIK3CD*	Immunodeficiency, Faciooculoskeletal Anomalies	AD	100	23 of 23
*PIK3R1*	Agamma- globulinemia, Immunodeficiency, Short Syndrome	AD,AR	99.89	29 of 29
*PKP1*	Ectodermal Dysplasia, Skin Fragility, Epidermolysis Bullosa Simplex	AR	100	18 of 18
*PNP*	Immunodeficiency, Purine Nucleoside Phosphorylase Deficiency	AR	99.73	39 of 39
*POLE*	Colorectal Cancer, Facial Dysmorphism, Immunodeficiency, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, Image Syndrome	AD,AR	100	100 of 100
*PRKCD*	Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	100	9 of 9
*PRKDC*	Immunodeficiency, Neurologic Abnormalities	AR	99.74	9 of 10
*PRPS1*	Arts Syndrome, Charcot-Marie- Tooth Disease, Deafness, Phosphorib- osylpyrophosphate Synthetase Superactivity, Lethal Ataxia, Deafness, Optic Atrophy	X,XR,G	100	–
*PTEN*	Cowden Disease, Macrocephaly, Autism Syndrome, Meningioma, Prostate Cancer, Bannayan– Riley- Ruvalcaba Syndrome, Breast And Ovarian Cancer, Polyposis, Lhermitte- Duclos Disease, Proteus Syndrome Segmental Outgrowth, Lipomatosis, Epidermal Nevus	AD	99.97	609 of 629
*PTPRC*	Immunodeficiency	AR	99.98	7 of 7
*RAB27A*	Griscelli Syndrome	AR	100	54 of 55
*RAC2*	Immunodeficiency, Lymphopenia, Defective Neutrophil Chemotaxis, Hypogamm- aglobulinemia	AD,AR	100	5 of 5
*RAG1*	Cellular And Humoral Immune Defects, Omenn Syndrome, Immunodeficiency	AR	100	193 of 193
*RAG2*	Omenn Syndrome, Immunodeficiency	AR	100	90 of 91
*RASGRP1*	Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	98.41	8 of 9
*RBCK1*	Polyglucosan Body Myopathy, Immunodeficiency	AR	100	13 of 13
*RELB*	Immunodeficiency	AR	99.47	1 of 1
*RFX5*	Bare Lymphocyte Syndrome, Immunodeficiency	AR	99.98	13 of 13
*RFXANK*	Bare Lymphocyte Syndrome, Immunodeficiency	AR	95.14	24 of 24
*RFXAP*	Bare Lymphocyte Syndrome, Immunodeficiency	AR	94.32	8 of 9
*RIPK1*	Autoinflammation, Episodic Fever, Lymphadenopathy, Immunodeficiency	AD,AR	98.03	12 of 14
*RMRP*	Anauxetic And Metaphyseal Dysplasia, Cartilage- Hair Hypoplasia, Hypotrichosis, Omenn Syndrome	AR	–	–
*RNF168*	Riddle Syndrome	AR	99.91	6 of 6
*RNU4ATAC*	Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism, Roifman Syndrome	AR	–	–
*RORC*	Immunodeficiency	AR	99.99	6 of 6
*RREB1*	22q11.2 Deletion Syndrome	–	99.92	8 of 8
*RTEL1*	Dyskeratosis Congenita, Pulmonary Fibrosis, Marrow Failure, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.73	127 of 131
*SBDS*	Aplastic Anemia, Shwachman– Diamond Syndrome	AR	100	77 of 79
*SDHB*	Carney- Stratakis Syndrome, Gastrointestinal Stromal Tumor Paragangliomas, Pheoch- romocytoma, Cowden Syndrome, Succinate- Coq Reductase Deficiency	AD	100	261 of 264
*SDHC*	Carney- Stratakis Syndrome, Gastrointestinal Stromal Tumor, Paragangliomas, Cowden Syndrome, Pheochromocytoma	AD	99.95	62 of 63
*SDHD*	Carney- Stratakis Syndrome, Mitochondrial Complex Ii Deficiency, Paragangliomas, Pheochro- mocytoma, Carcinoid Syndrome, Cowden Syndrome, Succinate-Coq Reductase Deficiency	AD,AR	99.98	164 of 166
*SEC23B*	Anemia, Cowden Syndrome	AD,AR	100	119 of 127
*SEC24C*	22q11.2 Deletion Syndrome	–	99.98	–
*SH2D1A*	Lymphoproliferative Syndrome	X,XR,G	99.94	–
*SHANK3*	Phelan- Mcdermid Syndrome, Schizophrenia, Monosomy 22q13.3	AD,MU,P	96.67	–
*SIK3*	Spondyloe- pimetaphyseal Dysplasia	AR	97.63	2 of 2
*SKIV2L*	Trichohe- patoenteric Syndrome, Syndromic Diarrhea	AR	99.98	33 of 33
*SLC46A1*	Folate Malabsorption	AR	99.8	21 of 21
*SMARCAL1*	Schimke Immuno- Osseous Dysplasia	AR	99.94	93 of 93
*SP110*	Hepatic Venoocclusive Disease, Immunodeficiency, Veno– Occlusive Disease	AR	99.94	8 of 8
*SPATA5*	Epilepsy, Hearing Loss, Mental Retardation, Microcephaly	AR	99.83	30 of 30
*SRP54*	Neutropenia, Shwachman- Diamond Syndrome	AD,AR	99.95	8 of 8
*STAT1*	Immunodeficiency, Autoimmune Enteropathy, Endocrinopathy	AD,AR	100	138 of 138
*STAT2*	Immunodeficiency, Pseudo- Torch Syndrome	AR	100	9 of 9
*STAT5B*	Growth Hormone Insensitivity, Immunodeficiency, Promyelocytic Leukemia	AD	99.94	12 of 12
*STIM1*	Immune Dysfunction, T-Cell Inactivation , Myopathy, Stormorken- Sjaastad- Langslet Syndrome	AD,AR	100	28 of 28
*STK4*	T-Cell Immunodeficiency, Autoimmunity	AR	99.88	10 of 10
*STX1A*	Cystic Fibrosis	–	97	3 of 3
*TBCE*	Encephalopathy, Optic Atrophy, Hypopa- rathyroidism, Kenny-Caffey Syndrome, Spastic Ataxia, Sanjad-Sakati Syndrome	AR	100	8 of 8
*TBK1*	Encephalopathy, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Herpes Simplex Virus Encephalitis	AD	99.91	141 of 142
*TBX1*	Conotruncal Heart Malformations, Digeorge Syndrome Tetralogy Of Fallot, Velocardiofacial Syndrome, 22q11.2 Deletion Syndrome, 22q11.2 Microduplication Syndrome	AD,AR	88.7	35 of 42
*TCF3*	Agamma- globulinemia	AD	99.98	7 of 7
*TERC*	Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Aplastic Anemia, Pulmonary Fibrosis	AD	–	–
*TERT*	Aplastic Anemia, Dyskeratosis Congenita, Leukemia, Melanoma, Pulmonary Fibrosis, Bone Marrow Failure , Hoyeraal- Hreidarsson Syndrome, Meningioma	AD,AR	99.09	194 of 197
*TFRC*	Immunodeficiency	AR	100	2 of 2
*TGFB1*	Camurati– Engelmann Disease, Cystic Fibrosis, Inflammatory Bowel Disease Immunodeficiency, Encephalopathy	AD,AR	99.75	24 of 24
*TICAM1*	Encephalopathy, Herpes Simplex Virus Encephalitis	AD,AR	99.97	4 of 4
*TINF2*	Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal- Hreidarsson Syndrome	AD	99.94	47 of 47
*TLR3*	Encephalopathy, Herpes Simplex Virus Encephalitis	AD,AR	100	16 of 16
*TLR7*	Immunodeficiency	X,XR,G	99.53	–
*TNFRSF13B*	Immunodeficiency, Immunoglobulin A Deficiency	AD,AR	100	50 of 50
*TNFRSF13C*	Immunodeficiency	AD,AR	99.2	3 of 3
*TNFRSF1B*	Classic Mycosis Fungoides, Sézary Syndrome	–	98.76	1 of 1
*TNFRSF4*	Immunodeficiency	AR	99.98	1 of 1
*TNFSF12*	Immunodeficiency	–	95.06	1 of 1
*TPP2*	Autoimmune Hemolytic Anemia, Autoimmune Thrombocytopenia, Immunodeficiency	–	99.84	11 of 11
*TRAC*	T-Cell Receptor Alpha/Beta Deficiency	AR	100	–
*TRAF3*	Herpes Simplex Virus Encephalitis	–	100	3 of 3
*TRNT1*	Retinitis Pigmentosa, Erythrocytic Microcytosis, Sideroblastic Anemia, B-Cell Immunodeficiency, Periodic Fevers Developmental Delay	AR	99.47	22 of 27
*TTC37*	Trichohe- patoenteric Syndrome, Syndromic Diarrhea	AR	100	66 of 66
*TTC7A*	Gastrointestinal Defects, Immunodeficiency Syndrome, Intestinal Atresia	AR	100	44 of 45
*TYK2*	Tyrosine Kinase 2 Deficiency	AR	97.56	9 of 9
*UFD1*	22q11.2 Deletion Syndrome	–	99.98	–
*UNC119*	Immunodeficiency, Cone Rod Dystrophy	AD	100	6 of 6
*UNC93B1*	Encephalopathy, Herpes Simplex Virus Encephalitis	AR	97.97	2 of 2
*UNG*	Immunodeficiency With Hiper Igm	AR	99.94	7 of 7
*UROS*	Erythropoietic Porphyria	AR	100	44 of 50
*USB1*	Poikiloderman Neutropenia, Dyskeratosis Congenita	AR	100	24 of 24
*USF3*	Cowden Syndrome	–	99.61	–
*USP8*	Pituitary Adenoma, Spastic Paraplegia, Cushing Disease	AD,AR	98.19	3 of 3
*WAS*	Neutropenia, Thrombo- cytopenia, Wiskott– Aldrich Syndrome	X,XR,G	100	–
*WDR1*	Periodic Fever, Immunodeficiency, Thrombocytopenia	AR	100	9 of 9
*WHCR*	Wolf- Hirschhorn Syndrome	AD	–	–
*WIPF1*	Wiskott-Aldrich Syndrome	AR	99.79	3 of 3
*WRAP53*	Dyskeratosis Congenita	AR	100	10 of 10
*XIAP*	Lympho- proliferative Syndrome	X,XR,G	99.94	–
*XRCC4*	Short Stature, Microcephaly, Endocrine Dysfunction, Lig4 Syndrome, Dwarfism, Insulin Resistance	AR	99.73	10 of 10
*ZAP70*	Autoimmune Disease, Immunodeficiency	AR	99.99	30 of 30
*ZBTB24*	Immunodeficiency, Icf Syndrome	AR	100	23 of 23

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

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