title: Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.
authors: Darrell L
authors: DL
authors: Dinwiddie
authors: Stephen F
authors: SF
authors: Kingsmore
authors: Sonia
authors: S
authors: Caracciolo
authors: Giuseppe
authors: G
authors: Rossi
authors: Daniele
authors: D
authors: Moratto
authors: Cinzia
authors: C
authors: Mazza
authors: Cristiano
authors: C
authors: Sabelli
authors: Rosa
authors: R
authors: Bacchetta
authors: Laura
authors: L
authors: Passerini
authors: Chiara
authors: C
authors: Magri
authors: Callum J
authors: CJ
authors: Bell
authors: Neil A
authors: NA
authors: Miller
authors: Shannon L
authors: SL
authors: Hateley
authors: Carol J
authors: CJ
authors: Saunders
authors: Lu
authors: L
authors: Zhang
authors: Gary P
authors: GP
authors: Schroth
authors: Sergio
authors: S
authors: Barlati
authors: Raffaele
authors: R
authors: Badolato
mesh_terms: D000293:Adolescent; D000328:Adult; D003967:Diarrhea / Q000235:genetics* / Q000276:immunology; D004485:Eczema / Q000235:genetics* / Q000276:immunology; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007239:Infections / Q000235:genetics* / Q000276:immunology; D037181:Lectins, C-Type / Q000235:genetics* / Q000276:immunology; D008297:Male; D009154:Mutation; D035781:Siblings; D000099181:Dectin-1
chemical_list: D020662:Guanine Nucleotide Exchange Factors; D037181:Lectins, C-Type; C546929:CLEC7A protein, human; D000099181:Dectin-1; C516591:DOCK8 protein, human
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