Table 2.5-1. General recommendations on treatment of primary immunodeficiency disorders

Type of immunodeficiency

IVIG/SCIG

Allogeneic HSCT

Other treatments

Approximate prevalence (selected examples)

Immunodeficiency affecting predominantly antibodies

+

– (+ for selected cases of CVID)

– Avoidance of live vaccines (except SIGAD, IGGSD, THI)

– Antibiotic prophylaxis: All immunodeficiencies of this type if infections continue despite IVIG

– Immunomodulators: CVID

– Pneumococcal vaccination: SIGAD, IGGSD, SAD

SIGAD, 1:200

CVID, 1:20,000

XLA, 1:200,000

Combined immunodeficiency (including well-defined immunodeficiency syndromes)

+

+

– Avoidance of live vaccines: All immunodeficiencies of this type

– Avoidance of nonirradiated blood or products: All immunodeficiencies of this type

– Avoidance of CMV-positive blood or cells: All immunodeficiencies of this type

– Antibiotic prophylaxis: All immunodeficiencies of this type

– Antifungal prophylaxis: SCID, HIGM, HIES, ICD4L

– Splenectomy: WAS

– Glucocorticoids: WAS

– Thymus transplantation: DGS

– G-CSF, GM-CSF: ICD4L, HIGM

– Gene therapy for IL2RG, ADA deficiency, WAS

SCID, 1:50,000

WAS, 1:100,000

DGS, 1:5000

HIES, 1:100,000

HIGM, 1:500,000

ICD4L, very rare

Immunodysregulation disorders

+

+

– Avoidance of live vaccines: All immunodeficiencies of this type

– Antibiotic prophylaxis: All immunodeficiencies of this type

– Chemotherapy (as in lymphoproliferative neoplasms): XLP, GS

– Chemotherapy (associated with allogeneic HSCT): CHS

XLP, 1:1,000,000

 

Phagocyte defects

+

– Avoidance of live vaccines: All immunodeficiencies of this type

– Antibiotic prophylaxis: All immunodeficiencies of this type

– IFN-gamma: CGD, disorders of IL-12/IFN-gamma axis

– Surgical or dental debridement: CGD, LAD

– Antifungal prophylaxis: CGD, LAD

– G-CSF: Neutropenia

– Antituberculous agents: Disorders of IL-12/IFN-gamma axis

CGD, 1:200,000

LAD, very rare

Primary immunodeficiencies of the innate immune system

– (+ for WHIM)

+

– Avoidance of live vaccines: All immunodeficiencies of this type

– Antibiotic prophylaxis: All immunodeficiencies of this type

– G-CSF and GM-CSF: WHIM

– Antifungal agents: CMCC

– Antiviral agents: NK-cell deficiency

CMCC (diverse group of diseases), up to 1:10,000

WHIM, very rare

Complement deficiencies

– Antibiotic prophylaxis: All complement deficiencies

– Pneumococcal vaccine: Deficiency of C1a, C1r, C2, C3, C4

– Meningococcal vaccine: Deficiency of C5, C6, C7, C8, C9

– Immunomodulators (IFN-gamma): Deficiency of C1a, C2, C4, factors H and I

C2 deficiency, 1:20,00

C4 deficiency, very rare

C5-C9 deficiency, variable, up to 1:2000

 

Adapted from J Allergy Clin Immunol. 2015;136(5):1186-205.

ADA, adenine deaminase; CGD, chronic granulomatous disease; CHS, Chédiak-Higashi syndrome; CMCC, chronic mucocutaneous candidiasis; CMV, cytomegalovirus; CVID, common variable immunodeficiency; DGS, DiGeorge syndrome; G-CSF, granulocyte-colony stimulating factor; GM-CSF, granulocyte-macrophage colony stimulating factor; GS, Griscelli syndrome; HIES, hyper-IgE syndrome; HIGM, hyper-IgM syndrome; HSCT, hematopoietic stem cell transplantation; ICD4L, idiopathic CD4 lymphocytopenia; IFN-gamma, interferon gamma; IGGSD, IgG subclass deficiency; IL, interleukin; IL2RG, IL2 receptor gamma; IVIG, intravenous immunoglobulin; LAD, leukocyte adhesion deficiency; SAD, specific antibody deficiency; SCID, severe combined immunodeficiency; SCIG, subcutaneous immunoglobulin; SIGAD, selective IgA deficiency; THI, transient hypogammaglobulinemia of infancy; WAS, Wiskott-Aldrich syndrome; WHIM, warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis; XLA, X-linked agammaglobulinemia; XLP, X-linked lymphoproliferative syndrome.