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Results 1 - 10 of 11 for Roifman syndrome
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  1. Spondyloenchondrodysplasia with immune dysregulation 
    ... condition. Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia Roifman-Melamed syndrome Roifman–Costa syndrome SPENCDI Genetic Testing Registry: Spondyloenchondrodysplasia ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  2. Omenn syndrome 
    ... 19. Citation on PubMed Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J Allergy ...
    https://medlineplus.gov/genetics/condition/omenn-syndrome - Genetics
  3. RAG2 gene 
    ... Goldstein I, Nagar M, Amariglio N, Rechavi G, Roifman CM. Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. ...
    https://medlineplus.gov/genetics/gene/rag2 - Genetics
  4. RAG1 gene 
    ... Goldstein I, Nagar M, Amariglio N, Rechavi G, Roifman CM. Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. ...
    https://medlineplus.gov/genetics/gene/rag1 - Genetics
  5. Robinow syndrome 
    ... on PubMed or Free article on PubMed Central Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D. Autosomal Dominant Robinow Syndrome. 2015 Jan 8 [updated 2019 Oct 3]. In: ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  6. WNT5A gene 
    ... on PubMed or Free article on PubMed Central Roifman M, ... Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. ...
    https://medlineplus.gov/genetics/gene/wnt5a - Genetics
  7. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... Bougneres PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15; ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  8. AIRE gene 
    ... Bougneres PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15; ...
    https://medlineplus.gov/genetics/gene/aire - Genetics
  9. CARD11 gene 
    ... IMD11 IMD11A PPBL Tests of CARD11 ... TA, Merico D, Sharfe N, Ovadia A, Schejter Y, Reid B, Sun M, Vong L, Atkinson A, Lavi S, Pomerantz JL, Roifman CM. Combined immunodeficiency and atopy caused by a ...
    https://medlineplus.gov/genetics/gene/card11 - Genetics
  10. Cartilage-hair hypoplasia 
    ... ajmg.a.32053. Citation on PubMed Notarangelo LD, Roifman CM, Giliani S. Cartilage-hair hypoplasia: molecular basis ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
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