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تعداد آیتم قابل مشاهده باقیمانده: 4

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

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
  • ZAP-70 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).

Examples:

  • DiGeorge syndrome/velocardiofacial syndrome/chromosome 22q11.2 deletion syndrome
  • Pathogenic variant(s) in TBX1, TBX2, CHD7, FOXN1, and PAX1
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 HLH
  • X-linked lymphoproliferative disease (XLP1) due to SH2D1A mutations
  • Some patients with X-linked lymphoproliferative disease (XLP2) due to XIAP/BIRC4 mutations
  • HLH disorders with hypopigmentation (eg, Chediak-Higashi syndrome and Griscelli syndrome)
  • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
Phagocytic cell defects

Indicated for most patients.

Examples:

  • Chronic granulomatous disease
  • Leukocyte-adhesion deficiency
  • Severe congenital neutropenia
  • GATA2 deficiency
Defects of innate immunity

Potentially indicated for some diseases, although experience is limited.

Examples:

  • Interferon gamma receptor 1 deficiency
  • STAT1 gain of function
  • 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.
BIRC4: baculoviral IAP repeat-containing protein 4; CD40L: CD 40 ligand; CHD7: chromodomain helicase DNA-binding protein 7; DNA: deoxyribonucleic acid; DOCK8: dedicator of cytokinesis 8; FOXN1: forkhead box N1; GATA2: GATA-binding protein 2; HLH: hemophagocytic lymphohistiocytosis; IgG: immunoglobulin G; MHC: major histocompatibility complex; NEMO: nuclear factor (NF)-kappa-B essential modifier; PAX1: paired box 1; SCID: severe combined immunodeficiency; SH2D1A: SH2 domain-containing 1A; STAT1: signal transducer and activator of transcription 1; TBX: T-box transcription factor; XIAP: X-linked inhibitor of apoptosis; ZAP-70: zeta chain-associated protein kinase of 70 kD.
Graphic 96738 Version 7.0

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