ATAXIA-TELANGIECTASIA
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(OMIM:208900)
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Absent thumb - short stature - immunodeficiency
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(Orphanet:2951)
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Aplasia cutis congenita - intestinal lymphangiectasia
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(Orphanet:1116)
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Ataxia-telangiectasia
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(Orphanet:100)
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Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
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(Orphanet:331176)
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CHARGE syndrome
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(Orphanet:138)
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Cartilage-hair hypoplasia
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(Orphanet:175)
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Cernunnos-XLF deficiency
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(Orphanet:169079)
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Combined immunodeficiency due to STK4 deficiency
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(Orphanet:314689)
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Common variable immunodeficiency
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(Orphanet:1572)
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DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1
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(OMIM:127550)
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Dyskeratosis congenita
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(Orphanet:1775)
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Gaucher disease type 3
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(Orphanet:77261)
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Hennekam syndrome
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(Orphanet:2136)
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Hydrocephalus - blue sclerae - nephropathy
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(Orphanet:2186)
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ICF syndrome
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(Orphanet:2268)
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IMMUNODEFICIENCY 18
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(OMIM:615615)
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IMMUNODEFICIENCY 19
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(OMIM:615617)
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IMMUNODEFICIENCY 23
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(OMIM:615816)
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IMMUNODEFICIENCY 24
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(OMIM:615897)
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IMMUNODEFICIENCY 31C
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(OMIM:614162)
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Idiopathic CD4 lymphocytopenia
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(Orphanet:228000)
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Intestinal lymphangiectasia
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(Orphanet:36204)
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LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE
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(OMIM:247630)
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LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNEHEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS
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(OMIM:247800)
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Legionellosis
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(Orphanet:549)
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Myalgia-eosinophilia syndrome associated with tryptophan
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(Orphanet:2582)
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Pediatric systemic lupus erythematosus
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(Orphanet:93552)
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Polyarteritis nodosa, childhood-onset
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(OMIM:615688)
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Primary intestinal lymphangiectasia
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(Orphanet:90362)
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Progeria - short stature - pigmented nevi
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(Orphanet:2959)
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Purine nucleoside phosphorylase deficiency
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(Orphanet:760)
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Reticular dysgenesis
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(Orphanet:33355)
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Schimke immuno-osseous dysplasia
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(Orphanet:1830)
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Secondary intestinal lymphangiectasia
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(Orphanet:90363)
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Severe combined immunodeficiency
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(Orphanet:183660)
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Severe combined immunodeficiency due to CORO1A deficiency
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(Orphanet:228003)
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Severe combined immunodeficiency due to adenosine deaminase deficiency
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(Orphanet:277)
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Short-limb skeletal dysplasia with severe combined immunodeficiency
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(Orphanet:935)
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Thymic aplasia
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(Orphanet:83471)
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Transcobalamin deficiency
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(Orphanet:859)
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WISKOTT-ALDRICH SYNDROME
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(OMIM:301000)
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WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
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(OMIM:600903)
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