| *102700
|
Adenosine Deaminase; ADA
|
| *102720
|
Dipeptidylpeptidase IV; DPP4
|
|
102730 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due to
|
| *106100
|
Angioneurotic Edema, Hereditary; Hane
|
| *107470
|
Interferon, Gamma, Receptor 1; IFNGR1
|
| *109535
|
Tumor Necrosis Factor Receptor Superfamily, Member 5; TNFRSF5
|
| #116920
|
Leukocyte Adhesion Deficiency, Type I; LAD
|
| *123840
|
Peptidylprolyl Isomerase A; PPIA
|
|
125890 |
Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency
|
| *126391
|
Ligase I, Dna, Atp-Dependent; LIG1
|
| *129190
|
Nucleotidase, 5-Prime; NT5
|
|
137100 |
Gamma-A-Globulin, Selective Deficiency of
|
|
137245 |
Gastric Lymphoma, Primary
|
| *139200
|
Group-Specific Component; GC
|
| *142765
|
Regulatory Factor 2; RFX2
|
| *146661
|
Interleukin 7 Receptor; IL7R
|
|
146830 |
Immune Deficiency, Familial Variable
|
|
146840 |
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and
with Response to Histamine-1 Antagonist
|
| *147680
|
Interleukin 2; IL2
|
| *147730
|
Interleukin 2 Receptor, Alpha; IL2RA
|
| *147780
|
Interleukin 4; IL4
|
| *153370
|
Integrin, Alpha-L; ITGAL
|
| *153390
|
Lymphocyte-Specific Protein-Tyrosine Kinase; LCK
|
| *154545
|
Mannose-Binding Lectin 2, Soluble; MBL2
|
| *161561
|
Interleukin 12B; IL12B
|
| *162643
|
Neuropeptide Y Receptor Y3; NPY3R
|
| *164050
|
Nucleoside Phosphorylase; NP
|
| *167414
|
Paired Box Homeotic Gene 5; PAX5
|
| *171833
|
Phosphatidylinositol 3-Kinase, Regulatory, 1; PIK3R1
|
|
176690 |
Progeroid Short Stature with Pigmented Nevi
|
| *176883
|
Protein-Tyrosine Phosphatase, Nonreceptor-Type, 6; PTPN6
|
| *176947
|
Zeta-Chain-Associated Protein Kinase; ZAP70
|
| *176970
|
Protein Kinase C, Beta-1; PRKCB1
|
| *179615
|
Recombination Activating Gene 1; RAG1
|
| *179616
|
Recombination Activating Gene 2; RAG2
|
| *182160
|
Sialophorin; SPN
|
| *186740
|
T3 T-Cell Antigen, Gamma Chain; T3G; CD3G
|
| *186780
|
Cd3z Antigen, Zeta Polypeptide; CD3Z
|
| *186820
|
T-Cell Antigen CD7; CD7
|
| *186830
|
Cd3e Antigen, Epsilon Polypeptide; CD3E
|
| *186940
|
T-Cell Antigen T4/LEU3; CD4
|
| *188400
|
Digeorge Syndrome; DGS
|
| #192430
|
Velocardiofacial Syndrome
|
|
200900 |
Achondroplasia, So-Called, and Swiss-Type Agammaglobulinemia
|
| *202500
|
Severe Combined Immunodeficiency 1; SCID1
|
| *208900
|
Ataxia-Telangiectasia; AT
|
| #209920
|
Bare Lymphocyte Syndrome; BLS
|
| #209950
|
Atypical Mycobacteriosis, Familial
|
| *211350
|
Bowing, Congenital, with Short Bones
|
| #214450
|
Griscelli Syndrome
|
|
215250 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
|
| *220210
|
Dandy-Walker-Like Malformation with Atrioventricular Septal Defect
|
|
227100 |
Erythroderma Desquamativa of Leiner
|
|
235550 |
Hepatic Venoocclusive Disease with Immune Deficiency
|
| *240500
|
Common Variable Immunodeficiency
|
| *242700
|
Immune Defect Due to Absence of Thymus
|
|
242800 |
Immune Defect with Lymphotoxic Factor
|
|
242840 |
Immunodeficiency with Cleft Lip/Palate, Cataract, Hypopigmentation, and
Absent Corpus Callosum
|
| *242860
|
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
|
|
242870 |
Immunodeficiency, Partial Combined, with Absence of HLA Determinants
and Beta-2-Microglobulin from Lymphocytes
|
| *243150
|
Intestinal Atresia, Multiple
|
|
243340 |
Ischiadic Hypoplasia with Renal Dysfunction, Immunodeficiency, and Polydactyly
|
| *250250
|
Cartilage-Hair Hypoplasia; CHH
|
|
250460 |
Metaphyseal Dysplasia Without Hypotrichosis
|
| #251260
|
Nijmegen Breakage Syndrome
|
| *251270
|
Microcephaly with Chorioretinopathy
|
| *258900
|
Oroticaciduria I
|
| #265120
|
Pulmonary Alveolar Proteinosis
|
| *267500
|
Reticular Dysgenesia
|
| #267700
|
Reticulosis, Familial Histiocytic
|
|
269840 |
Severe Combined Immunodeficiency, Atypical
|
| *274190
|
Thumb Agenesis, Dwarfism, and Immunodeficiency
|
| *275350
|
Transcobalamin II Deficiency
|
| *300300
|
Bruton Agammaglobulinemia Tyrosine Kinase; BTK
|
| #300400
|
Severe Combined Immunodeficiency, X-Linked; SCIDX1
|
| *301000
|
Wiskott-Aldrich Syndrome; WAS
|
| *305100
|
Ectodermal Dysplasia 1, Anhidrotic; ED1
|
| *305900
|
Glucose-6-Phosphate Dehydrogenase; G6PD
|
| *307200
|
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked
|
|
308210 |
Immunodeficiency, T-Cell Type
|
|
308220 |
Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface
Glycoprotein
|
| *308230
|
Immunodeficiency with Increased IgM
|
| *308240
|
Lymphoproliferative Syndrome
|
| *308380
|
Interleukin 2 Receptor, Gamma; IL2RG
|
| #312863
|
Severe Combined Immunodeficiency, X-Linked, 2; SCIDX2
|
| #313900
|
Thrombocytopenia, X-Linked; XLT
|
| *600005
|
Major Histocompatibility Complex Class II Transactivator; MHC2TA
|
| *600006
|
Regulatory Factor 1; RFX1
|
| *600173
|
Janus Kinase 3; JAK3
|
| *600489
|
Nuclear Factor of Activated T Cells, Cytoplasmic 1; NFATC1
|
| *600490
|
Nuclear Factor of Activated T Cells, Cytoplasmic 2; NFATC2
|
|
600545 |
Hoyeraal-Hreidarsson Syndrome
|
| #600802
|
Severe Combined Immunodeficiency, Autosomal Recessive, T-Negative/B-Positive
Type
|
| *600835
|
Stromal Cell-Derived Factor 1; SDF1
|
| #600885
|
Berlin Breakage Syndrome
|
| *600899
|
Protein Kinase, Dna-Activated, Catalytic Subunit; PRKDC
|
|
601057 |
Apoptosis-Linked Gene 2; ALG2
|
|
601347 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature,
and Psychomotor Delay
|
| *601362
|
Digeorge Syndrome/Velocardiofacial Syndrome Spectrum of Malformation
2
|
| #601457
|
Severe Combined Immunodeficiency, B Cell-Negative
|
|
601705 |
T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy
|
| *601863
|
Regulatory Factor 5; RFX5
|
| *602450
|
Severe Combined Immunodeficiency, Athabascan Type; SCIDA
|
| *602667
|
Nijmegen Breakage Syndrome Gene; NBS1
|
| *603200
|
Regulatory Factor X, Ankyrin Repeat-Containing; RFXANK
|
| *603255
|
Nuclear Transcription Factor, X Box-Binding, 1; NFX1
|