Indications for hematopoietic cell transplantation (HCT) for inborn errors of immunity

Type of inborn error of immunity	Indications
SCID	Required in all patients for survival.
Leaky SCID	Required in almost all patients for survival.
Combined immunodeficiencies	Potentially indicated, depending upon the severity of the phenotype and availability of suitable donor. Examples: CD40L deficiency DOCK8 deficiency MHC class II deficiency Purine nucleoside phosphorylase deficiency
Combined immunodeficiencies with associated or syndromic features	Potentially indicated based upon predicted lifetime risks and patient-specific manifestations. Examples: Cartilage-hair hypoplasia NEMO deficiency Wiskott-Aldrich syndrome
Combined immunodeficiencies due to athymia	Not indicated because allogeneic HCT will not replace thymic tissue. Patients with congenital athymia are best treated with cultured thymus tissue implantation (CTTI).
Predominantly antibody deficiencies	Generally not indicated for patients for whom IgG infusions confer protection from infection. Exceptions may be patients with common variable immunodeficiency who experience severe manifestations, including immune dysregulation.
Diseases of immune dysregulation	Indicated for many patients because disease may be life threatening. Examples: Familial hemophagocytic lymphohistiocytosis X-linked lymphoproliferative disease due to SH2D1A mutations Some patients with X-linked lymphoproliferative disease due to XIAP/BIRC4 mutations Immune dysregulation, polyendocrinopathy, enteropathy, X-linked
Phagocytic cell defects	Indicated for most patients. Examples: Chronic granulomatous disease Leukocyte-adhesion deficiency Severe congenital neutropenia
Defects of innate immunity	Potentially indicated for some diseases, although experience is limited. Examples: Interferon gamma receptor 1 deficiency STAT1 loss of function
Autoinflammatory disorders	Generally not indicated for patients in this category, but there is limited experience for some disorders.
Complement deficiencies	Not indicated for most complement defects, because most complement factors are produced by the liver. Allogeneic HCT is a potential option for C1q deficiency as hematopoietic cells produce C1q.

SCID: severe combined immunodeficiency; CD40L: CD 40 ligand; DOCK8: dedicator of cytokinesis 8; MHC: major histocompatibility complex; NEMO: nuclear factor (NF)-kappa-B essential modifier; IgG: immunoglobulin G; SH2D1A: SH2 domain-containing 1A; XIAP: X-linked inhibitor of apoptosis; BIRC4: baculoviral IAP repeat-containing protein 4; STAT1: signal transducer and activator of transcription 1.

Graphic 96738 Version 6.0

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Indications for hematopoietic cell transplantation (HCT) for inborn errors of immunity