| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (40.9%) |
26186701 (4506145) |
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens. Geier CB, Piller A, Linder A, Sauerwein KM, Eibl MM, Wolf HM. PLoS One. 2015;10(7):e0133220. |
| Sinusitis | ||
| rs36001797 | ||
| Adult CD4 Positive T Lymphocytes DNA-Binding Proteins Females Homeodomain Proteins Homo sapiens Immunologic Deficiency Syndromes Lipopolysaccharides Mutation Nuclear Proteins | ||
| 2 (32.7%) |
20538026 |
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. Horn J, Schlesier M, Warnatz K, Prasse A, Superti-Furga A, Peter HH, Salzer U. Hum Immunol. 2010;71(9):916-9. |
| Anemia Metaphyseal dysplasia | ||
| RMRP | ||
| g|INDEL|68_69|TT g|SUB|C|76|T | ||
| Adult Agammaglobulinemia Age of Onset Antibodies Base Sequence Bone Marrow Bronchiectasis Bronchoalveolar Lavage Fluid Congenital Hand Deformities Endoribonucleases Fatal Outcome Females Growth Disorders Hair Hirschsprung Disease Homo sapiens Immunologic Deficiency Syndromes Male Mutation Osteochondrodysplasias Pneumonia Sepsis Splenomegaly | ||
| 3 (26.3%) |
27713031 |
Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy. Cifaldi C, Scarselli A, Petricone D, Di Cesare S, Chiriaco M, Claps A, Rossi P, Calzoni E, Yamazaki Y, Notarangelo LD, Di Matteo G, Cancrini C, Finocchi A. Clin Immunol. 2016;173:121-123. |
| Nasal polyposis | ||
| RAG1 RAG2 | ||
| p|SUB|H|249|R;RS#:3740955 p|SUB|R|624|H;RS#:199474680 p|SUB|Y|728|H | ||
| Agammaglobulinemia B-Lymphocytes Child Common Variable Immunodeficiency Homeodomain Proteins Homo sapiens Male Mutation Nasal Polyps Phenotype | ||
| 4 (4.0%) |
31049936 |
Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes. Wiegmann H, Reunert J, Metze D, Marquardt T, Engel T, Kunde V, Ehl S, Foell D, van den Heuvel I, Oji V, Wittkowski H. Br J Dermatol. 2019;:. |
| Failure to thrive | ||
| BCL10 IGHE MALT1 RAG1 RAG2 SPINK5 | ||
| c|DUP|310|| c|SUB|T|245|C | ||
| Females Homo sapiens Infant Mucosa-Associated Lymphoid Tissue Lymphoma Mutation Serine Peptidase Inhibitor Kazal-Type 5 Severe Combined Immunodeficiency | ||
| 4 (4.0%) |
29610161 |
Topical Hypochlorite and Skin Acidification Improves Erythroderma of Omenn Syndrome. Wat M, Olicker A, Meyerson H, Nedorost S, Paller AS, Cooper K. Pediatrics. 2018;141(Suppl 5):S408-S411. |
| Erythroderma | ||
| Administration, Cutaneous Adrenal Cortex Hormones Dermatologic Agents Females Homo sapiens Hydrogen-Ion Concentration Infant, Newborn Severe Combined Immunodeficiency Skin Cream Skin Diseases, Bacterial | ||
| 4 (4.0%) |
27862277 |
Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn. Zafar R, Ver Heul A, Beigelman A, Bednarski JJ, Bayliss SJ, Dehner LP, Rosman IS, Coughlin CC. Pediatr Dermatol. 2017;34(1):e37-e39. |
| Erythroderma | ||
| CD4 CD8A | ||
| DNA-Binding Proteins Females Homeodomain Proteins Homo sapiens Infant, Newborn Lymphocytosis Mutation Nuclear Proteins Severe Combined Immunodeficiency Skin | ||
| 4 (4.0%) |
26829731 |
[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome]. Xu Y, Chen Y, Chen H, Zeng H. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33(1):38-43. |
| Erythroderma | ||
| RAG1 RAG2 | ||
| c|DEL|2486_2490|GGAAA c|DEL|2892|T c|SUB|C|1209|T c|SUB|G|1328|A;RS#:764709729 p|FS|N|964|K|14 p|FS|R|829||869 p|SUB|R|403|W p|SUB|R|443|K;RS#:764709729 | ||
| Adult Base Sequence DNA-Binding Proteins Females Heterozygote Homeodomain Proteins Homo sapiens Infant Male Molecular Sequence Data Mutation Nuclear Proteins Severe Combined Immunodeficiency | ||
| 4 (4.0%) |
26689875 |
Three faces of recombination activating gene 1 (RAG1) mutations. Patiroglu T, Akar HH, Van Der Burg M. Acta Microbiol Immunol Hung. 2015;62(4):393-401. |
| Skin rash | ||
| RAG1 RAG2 | ||
| B-Lymphocytes Females Homeodomain Proteins Homo sapiens Infant Male Mutation Severe Combined Immunodeficiency T-Lymphocyte | ||
| 4 (4.0%) |
26289640 |
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Kruger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S. Blood. 2015;126(14):1658-69. |
| Erythroderma | ||
| CARD11 IL2 | ||
| p|SUB|C|150|* | ||
| Animals CARD Signaling Adaptor Proteins Females Flow Cytometry Guanylate Cyclase Homo sapiens Immunoblotting Immunohistochemistry Immunophenotyping Infant Lymphocyte Activation Male Mus Mutation Real-Time Polymerase Chain Reaction Regulatory T-Lymphocytes Severe Combined Immunodeficiency Sibling | ||
| 4 (4.0%) |
25739914 |
RAG1 deficiency may present clinically as selective IgA deficiency. Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S. J Clin Immunol. 2015;35(3):280-8. |
| Hepatosplenomegaly | ||
| RAG1 RAG2 | ||
| p|SUB|E|455|K p|SUB|R|764|H;RS#:768809293 | ||
| Child, Preschool Homeodomain Proteins Homo sapiens Male Mutation Single Nucleotide Polymorphism T-Cell Receptor V(D)J Recombination |
Total: 28
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001019 | Erythroderma | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001596 | Alopecia | Very frequent (99-80%) |
| HP:0002028 | Chronic diarrhea | Very frequent (99-80%) |
| HP:0002240 | Hepatomegaly | Very frequent (99-80%) |
| HP:0002716 | Lymphadenopathy | Very frequent (99-80%) |
| HP:0004332 | Abnormal lymphocyte morphology | Very frequent (99-80%) |
| HP:0004430 | Severe combined immunodeficiency | Very frequent (99-80%) |
| HP:0000958 | Dry skin | Frequent (79-30%) |
| HP:0000969 | Edema | Frequent (79-30%) |
| HP:0000989 | Pruritus | Frequent (79-30%) |
| HP:0001072 | Thickened skin | Frequent (79-30%) |
| HP:0001744 | Splenomegaly | Frequent (79-30%) |
| HP:0001880 | Eosinophilia | Frequent (79-30%) |
| HP:0001945 | Fever | Frequent (79-30%) |
| HP:0001974 | Leukocytosis | Frequent (79-30%) |
| HP:0002090 | Pneumonia | Frequent (79-30%) |
| HP:0007549 | Desquamation of skin soon after birth | Frequent (79-30%) |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Frequent (79-30%) |
| HP:0000100 | Nephrotic syndrome | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000944 | Abnormality of the metaphysis | Occasional (29-5%) |
| HP:0001831 | Short toe | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0002665 | Lymphoma | Occasional (29-5%) |
| HP:0002960 | Autoimmunity | Occasional (29-5%) |
| HP:0100646 | Thyroiditis | Occasional (29-5%) |
| HP:0100806 | Sepsis | Occasional (29-5%) |
Total: 21
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001880 | Eosinophilia | 12 |
| HP:0001019 | Erythroderma | 9 |
| HP:0001433 | Hepatosplenomegaly | 7 |
| HP:0002721 | Immunodeficiency | 6 |
| HP:0002716 | Lymphadenopathy | 5 |
| HP:0002960 | Autoimmunity | 3 |
| HP:0005387 | Combined immunodeficiency | 3 |
| HP:0032252 | Granuloma | 3 |
| HP:0000988 | Skin rash | 2 |
| HP:0001508 | Failure to thrive | 2 |
| HP:0002719 | Recurrent infections | 2 |
| HP:0000979 | Purpura | 1 |
| HP:0001047 | Atopic dermatitis | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001888 | Lymphopenia | 1 |
| HP:0005363 | Humoral immunodeficiency | 1 |
| HP:0010783 | Erythema | 1 |
| HP:0031430 | Oligoclonal T cell expansion | 1 |
| HP:0032061 | Hypereosinophilia | 1 |
| HP:0100806 | Sepsis | 1 |
| HP:0100827 | Lymphocytosis | 1 |
Total: 9
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| ADA | adenosine deaminase | 100 |
| RAG1 | recombination activating 1 | 5896 |
| RAG2 | recombination activating 2 | 5897 |
| CHD7 | chromodomain helicase DNA binding protein 7 | 55636 |
| DCLRE1C | DNA cross-link repair 1C | 64421 |
| IL2RG | interleukin 2 receptor subunit gamma | 3561 |
| LIG4 | DNA ligase 4 | 3981 |
| RMRP | RNA component of mitochondrial RNA processing endoribonuclease | 6023 |
| IL7R | interleukin 7 receptor | 3575 |