The following guidelines list the immunodeficiencies that have been successfully treated by allo-HCT:
- Lymphocyte immunodeficiencies
- Adenosine deaminase deficiency
- Artemis deficiency
- Calcium channel deficiency
- CD 40 ligand deficiency
- Cernunnos/X-linked lymphoproliferative disease deficiency
- CHARGE syndrome with immune deficiency
- Common gamma chain deficiency
- Deficiencies in CD45, CD3, CD8
- DiGeorge syndrome
- DNA ligase IV deficiency syndrome
- Interleukin-7 receptor alpha deficiency
- Janus-associated kinase 3 (JAK3) deficiency
- Major histocompatibility class II deficiency
- Omenn syndrome
- Purine nucleoside phosphorylase deficiency
- Recombinase-activating gene (RAG) 1/2 deficiency
- Reticular dysgenesis
- Winged helix deficiency
- Wiskott-Aldrich syndrome
- X-linked lymphoproliferative disease
- Zeta-chain-associated protein-70 (ZAP-70) deficiency
- Phagocytic deficiencies
- Chédiak-Higashi syndrome
- Chronic granulomatous disease
- Hemophagocytic lymphohistiocytosis
- Griscelli syndrome, type 2
- Interferon-gamma receptor deficiencies
- Leukocyte adhesion deficiency
- Severe congenital neutropenias
- Shwachman-Diamond syndrome
- Other immunodeficiencies
- Autoimmune lymphoproliferative syndrome
- Cartilage hair hypoplasia
- CD25 deficiency
- Hyper IgD and IgE syndromes
- Immunodeficiency, centromeric instability, and facial dysmorphism syndrome (ICF syndrome)
- Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome)
- Nuclear factor –KB (NF-KB) essential modulator deficiency (NEMO deficiency)
- NF-κB inhibitor, NF-KB-a deficiency
- Nijmegen breakage syndrome
For inherited metabolic disorders, allogeneic HCT has been proven effective in some cases of Hurler, Maroteaux-Lamy, and Sly syndromes, childhood onset cerebral X-linked adrenoleukodystrophy, globoid-cell leukodystrophy, metachromatic leukodystrophy, alpha-mannosidosis, and aspartylglucosaminuria. Allogeneic HCT is possibly effective for fucosidosis, Gaucher types 1 and 3, Farber lipogranulomatosis, galactosialidosis, GM1, gangliosidosis, mucolipidosis II (I-cell disease), multiple sulfatase deficiency, Niemann-Pick, neuronal ceroid lipofuscinosis, sialidosis, and Wolman disease. Allogeneic HCT has not been effective in Hunter, Sanfilippo, or Morquio syndromes.
The experience with reduced-intensity conditioning (RIC) and allogeneic HCT for the diseases listed in this policy has been limited to small numbers of individuals and have yielded mixed results, depending upon the disease category. In general, the results have been most promising in the bone marrow failure syndromes and primary immunodeficiencies. In the hemoglobinopathies, success has been hampered by difficulties with high rates of graft rejection, and in adult individuals, severe graft-versus-host-disease (GVHD).
