Predominantly antibody deficiency: Difference between revisions

Jump to navigation Jump to search
Line 76: Line 76:


==X-linked Agammaglobulinemia==
==X-linked Agammaglobulinemia==
*X-linked disease caused by the mutation of BTK gene (present on the long arm of X chromosome) encoding for Bruton tyrosine kinase. This protein is mainly associated with the maturation and differentiation of the pre B cell.<ref name="pmid24909997">{{cite journal |vauthors=Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C, Ochs HD, Bonilla FA, Paris K, Yel L, Sullivan KE |title=Autoimmunity and inflammation in X-linked agammaglobulinemia |journal=J. Clin. Immunol. |volume=34 |issue=6 |pages=627–32 |date=August 2014 |pmid=24909997 |pmc=4157090 |doi=10.1007/s10875-014-0056-x |url=}}</ref>
*X-linked transmission.
*It is caused by [[mutation]] of BTK gene (present on the long arm of X chromosome) encoding for Bruton tyrosine kinase..<ref name="pmid24909997">{{cite journal |vauthors=Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C, Ochs HD, Bonilla FA, Paris K, Yel L, Sullivan KE |title=Autoimmunity and inflammation in X-linked agammaglobulinemia |journal=J. Clin. Immunol. |volume=34 |issue=6 |pages=627–32 |date=August 2014 |pmid=24909997 |pmc=4157090 |doi=10.1007/s10875-014-0056-x |url=}}</ref>
*This protein is mainly associated with the maturation and differentiation of the pre B cell
*Disruption of this protein can therefore lead to significant decrease in all antibody isotypes.
*Disruption of this protein can therefore lead to significant decrease in all antibody isotypes.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 16:34, 26 November 2018

Immunodeficiency Main Page

Home

Overview

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: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

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

  • X-linked transmission.
  • It is caused by mutation of BTK gene (present on the long arm of X chromosome) encoding for Bruton tyrosine kinase..[1]
  • This protein is mainly associated with the maturation and differentiation of the pre B cell
  • Disruption of this protein can therefore lead to significant decrease in all antibody isotypes.

References

  1. Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C, Ochs HD, Bonilla FA, Paris K, Yel L, Sullivan KE (August 2014). "Autoimmunity and inflammation in X-linked agammaglobulinemia". J. Clin. Immunol. 34 (6): 627–32. doi:10.1007/s10875-014-0056-x. PMC 4157090. PMID 24909997.