Immunologic Disorders

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• Agammaglobulinemia, X-linked (XLA) – BTK deficiency  
• Autoimmune lymphoproliferative syndrome (ALPS)
• Autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy (APECED)  
• CD25 (IL-2 receptor α-chain) deficiency  
• Common variable immunodeficiency (CVID)
• DOCK8 deficiency  
• GATA2 deficiency  
• Hemophagocytic lymphohistiocytosis (HLH)
• Hyper-IgE syndrome (HIES)
• Hyper IgE syndrome – autosomal dominant (AD-HIES)  
• Hyper-IgM (HIGM) syndromes
• Hyper IgM syndrome, X-linked (XHIM) – CD40L deficiency  
• Hyper IgM syndromes (HIGM) – Type 2: Activation induced cytidine deaminase
• Hyper IgM syndromes (HIGM) – Type 3
• Hyper IgM syndromes (HIGM) – Type 5: Uracil-n-glycosylase
• Hypohydrotic ectodermal dysplasia with immune deficiency (EDA-ID)
• ICOS deficiency
• IKBα
• Interferon-gamma receptor deficiency
• IL-10 receptor defects  
• IL-12 receptor deficiency
• Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)  
• Leukocyte adhesion deficiency type I (LAD I)
• MAGT1 deficiency
• Mammalian susceptibility to mycobacterial disease (MSMD)
• MHC II deficiency
• NEMO deficiency
• Netherton syndrome
• Severe combined immunodeficiency (SCID) syndromes
• STAT1 deficiency
• STAT5B (Signal Transducer and Activator of Transcription 5B) deficiency  
• Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome  
• Wiskott-Aldrich syndrome (WAS)  
• X-linked anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID)
• X-linked lymphoproliferative (XLP) syndromes
• X-linked lymphoproliferative disease 1 (XLP 1) – SAP (SH2D1A) deficiency
• X-linked lymphoproliferative disease 2 (XLP 2) – XIAP (BIRC4) deficiency