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