Predominantly antibody deficiency

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Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Preeti Singh, M.B.B.S.[2], Ali Akram, M.B.B.S.[3], Anmol Pitliya, M.B.B.S. M.D.[4]

Overview

Predominantly antibody deficiencies (PAD) are the most common type of primary immunodeficiency diseases (PID). PAD is a large group of diseases which may vary widely from having a complete absence of B cells and decrease in all immunoglobulins to having deficiency in specific immunoglobulins. Depending on the phenotype, agammaglobulinemia or CVID, patients can present either in infancy or adulthood.The main clinical characteristic of patients with PAD is recurrent bacterial infections, low levels of immunoglobulin (ranging from agammaglobulinemia to hypogammaglobulinemia), and impaired response to vaccines and antigens. Treatment is by intravenous or subcutaneous immunoglobulins and treatment of infections by antibiotics.

Classification

 
 
Predominantly antibody deficiencies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Hypogammaglobulinemia
 
Other antibody deficiencies


Hypogammaglobulinemia


 
 
 
 
Predominantly antibody deficiencies
(A): Hypogammaglobulinemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Serum immunoglobulin assays : IgG, IgA, IgM, IgE
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
IgG, IgA, and/or IgM ↓↓
→ B Lymphocyte (CD19+) enumeration (CMF)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
B absent
 
 
 
B >1%
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
X-Linked Agammaglobulinemia
 
Common Variable Immunodeficiency Phenotype
 
 
 
CD19 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
µ heavy chain Def
 
 
 
CVID with no gene defect specified
 
 
CD20 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Igα def
 
 
 
PIK3CD mutation(GOF),PIK3R1 deficiency(LOF)
 
 
CD21 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Igβ def
 
 
 
PTEN deficiency(LOF)
 
 
TRNT1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
BLNK def
 
 
 
CD81 deficiency
 
 
NFKB1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
λ5 def
 
 
 
TACI deficiency
 
 
NFKB2 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
PI3KR1 def
 
 
 
BAFF receptor deficiency
 
 
IKAROS deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
E47 transcription factor def
 
 
 
TWEAK deficiency
 
 
ATP6AP1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Mannosyl-oligosaccharide glucosidase deficiency (MOGS)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
TTC37 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
IRF2BP2 deficiency
 
 
 
 
 
 

Other Antibody deficiencies

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Predominantly antibody deficiencies
(B): Other antibody deficiencies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Serum Immunolobulin Assays: IgG, IgA, IgM, IgE
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Severe Reduction in Serum IgG and IgA with NI/elevated IgM and Normal Numbers of B cells: Hyper IgM Syndromes
 
 
 
 
Isotype, Light Chain, or Functional Deficiencies with Generally NI Numbers of B cells
 
 
 
High B cell numbers due to constitutive NF-kB activation
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
AID deficiency
 
 
 
 
 
Selective IgA deficiency
 
 
 
 
CARD11 Gain of Function
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
UNG deficiency
 
 
 
 
 
Transient hypogammaglobuliemia of infancy
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
INO80
 
 
 
 
 
IgG subclass deficiency with IgA deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
MSH6
 
 
 
 
 
Isolated IgG subclass deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Specific antibody deficiency with normal Ig levels and normal B cells
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Ig heavy chain muations and deletions
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Kappa chain deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Selective IgM deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

X-linked Agammaglobulinemia

  • It is an X linked disease, first described by Bruton in 1952.
  • It is caused by the mutation of BTK gene (present on the long arm of X chromosome) which encodes for the protein Bruton tyrosine kinase,which is associated with the maturation and differentiation of the pre B cell.[1]
  • The disruption of this protein can lead to significant decrease in all antibody isotypes, due to failure of Ig heavy chain rearrangement.[2]
  • Affected individuals generally present between 3 months to 3 years of age, with almost 90% becoming symptomatic by 5 years of age.[3]
  • Presence of maternal immunoglobulins provide transient protection, concealing symptoms of the disease and preventing early detection.
  • Physical examination typically shows absence of lymph nodes.
  • Patients are susceptible to recurrent infections with encapsulated organisms and enteroviruses, primarily effecting respiratory and gastrointestinal tracts.
  • Laboratory findings show defect in humoral immunity with absence or negligible amount of IgM, IgG, and IgA, as well as <2% of B cells lymphocytes. Neutropenia can also be seen.[4][1][5]
  • Treatment is mainly via hematopoietic stem cell therapy and through replacement of immunoglobulins either by intravenous or subcutaneous routes. Recurrent infections are prevented and treated by antibiotics.[6]

For more information on X-linked agammaglobulinemia, click here.

µ Heavy Chain Deficiency

Igα Deficiency

Igβ Deficiency

BLNK Deficiency

λ5 Deficiency

PI3KR1 Deficiency

E47 transcription factor Deficiency

CVID With No Gene Specified

  1. Hypogammaglobulinaemia with IgG levels two standard deviations below the mean.
  2. Impaired vaccine responses or absent isohemagglutinins.
  3. Exclusion of other causes of hypogammaglobulinaemia.
  • Patients are susceptible to recurrent infections, autoimmunity and malignancy.
  • Treatment is by intravenous or subcutaneous replacement of immunoglobulins.[20]

PIK3CD mutation,PIK3R1 deficiency

  • Also known as activated phosphoinositide 3-kinase δ syndrome (APDS).
  • Autosomal dominant gain of function (GOF) mutation of PIK3CD gene, which encodes for P110δ subunit of phosphoinositide 3-kinase (PI3K) and loss of function (LOF) mutation of PIK3R1 gene, which encodes the p85α subunit of PI3K.
  • Mutations in PIK3CD gene leads to clinical features similar to mutation in PIK3R1 gene.[21]
  • Patients with mutations of gene for PIK3R1 show characteristics similar to that of patients carrying gain-of-function mutations of PIK3CD gene.
  • Mutations lead to hyperactive PI3K/AKT/mTOR signaling.[15][22]
  • Disease is characterized by low numbers of naive T cells, but a larger number of senescent effector T cells.
  • Patients present with upper and lower respiratory tract infections, lymphadenopathy, nodular lymphoid hyperplasia, early-onset autoimmunity, malignancies and recurrent viral infections with cytomegalovirus (CMV) and Epstein Barr virus (EBV).[23]
  • Treatment is via sirolimus and selective PI3Kδ inhibitors, intavenous and subcutaneous immunoglobulin replacement, prophylactic antibiotic, and hematopoietic stem cell transplant.[24]

PTEN deficiency

CD 81 Deficiency

TACI Deficiency

  • Transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI) is a part of tumor necrosis factor family and involved in B cell class switching.
  • Missense mutation of one allele of TNFRSF13B gene encoding for TACI leads to CVID like immunodeficiency.[28]
  • Patients present with increased susceptibility to encapsulated organisms, autoimmunity, and hypogammaglobulinemia.[29][30]
  • Treatment is by intravenous or subcutaneous replacement of immunoglobulins.[20]

BAFF Receptor Deficiency

  • Mutation of B-cell activating factor receptor (BAFF-R) prevents maturation of transitional B cell, leading to a CVID type adult onset immunodeficiency.
  • Incomplete maturation leads to hypogammaglobulinemia, but can in a few cases not manifest to clinical disease, with recurrent infections.
  • Patients show varying degrees immunodeficiency but normal IgA levels.[31][32]
  • Treatment is by intravenous or subcutaneous replacement of immunoglobulins and by curative antibiotics.[20]

TWEAK Deficiency

MOGS Deficiency

  • Mannosyl-oligosaccharide glucosidase (MOGS) deficiency causes a congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG.
  • MOGS deficiency leads to improper processing of immunoglobulins, which shortens their half-life in circulation.
  • Few studies show that unlike most antibody deficiencies MOGS deficiency does not lead to clinical features of hypogammaglobulinemia like recurrent infections.
  • This is because cells with MOGS deficiency have altered glycosylation which prevents productive infection of multiple enveloped viruses.[34][35]

TTC37 Deficiency

  • Tetratricopeptide Repeat Domain 37 (TTC37) deficency is an autosomal recessive disease causing syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) which has a similar immune phenotype to CVID.
  • TTC37 is involved in aberrant mRNAs decay.
  • Patient presents in infancy with low IgG and poor antigen-stimulation to vaccine.
  • Clinical features show infantile onset refractory diarrhea, hair and facial anomalies.[36][37]
  • Treatment is by intravenous or subcutaneous replacement of immunoglobulins and by curative antibiotics.[20]

IRF2BP2 Deficiency

  • Interferon Regulatory Factor 2 Binding Protein 2 (IRF2BP2) mutation leads to impaired differentiation of B cells.
  • Few studies show that most patients with this mutation are diagnosed with CVID in childhood.
  • Disease is characterized by recurrent infections,low levels of IgG, IgA and IgM , and decreased number of memory B cells. There is no T cell dysfunction.[38]
  • Treatment is by intravenous or subcutaneous replacement of immunoglobulins and by curative antibiotics.[20]

CD19 Deficiency

CD20 Deficiency

CD21 Deficiency

TRNT1 Deficiency

NFKB1 Deficiency

NFKB2 Deficiency

IKAROS Deficiency

  • IKAROS gene encodes for a family of hemopoietic-specific zinc finger proteins which are essential for lymphocyte development.[50]
  • Individuals show varied severity of clinical disease, despite most patients having low B cell and antibody count.
  • Deficiency leads to hypogammaglobulinemia, decreased response to vaccines, recurrent bacterial infections and malignancies.
  • Treatment is via replacement of immunoglobulins and treatment of infections with antibiotics.[51]

ATP6AP1 Deficiency

AID Deficiency

UNG deficiency

INO80

  • INO80 gene encodes for a subunit of the chromatin remodeling complex that is required for immunoglobulin class switching.
  • Patients have normal or elevated IgM levels, but low switched immunoglobulin isotypes (IgG, IgA, IgE).
  • Treatment is by replacement of immunoglobulins.[60]

MSH6

  • MSH6 plays an important role in induction and repair of DNA double-strand breaks in immunoglobulin isotype switch regions, and is also involved in somatic hypermutation.[61]

Selective IgA Deficiency (SIgAD)

Kappa chain Deficiency

Selective IgM Deficiency

CARD11 Gain of Function

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