Predominantly antibody deficiency: Difference between revisions
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It is an X linked disease first discribed 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 protien 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> | It is an X linked disease first discribed 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 protien 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> | ||
which is mainly associated with the maturation and differentiation of the pre B cell. | which is mainly associated with the maturation and differentiation of the pre B cell. | ||
The disruption of this protein can therefore lead to significant decrease in all antibody isotypes, due to failure of Ig heavy chain rearrangement. | The disruption of this protein can therefore lead to significant decrease in all antibody isotypes, due to failure of Ig heavy chain rearrangement. <ref name="pmid8070812">{{cite journal |vauthors=Rawlings DJ, Witte ON |title=Bruton's tyrosine kinase is a key regulator in B-cell development |journal=Immunol. Rev. |volume=138 |issue= |pages=105–19 |date=April 1994 |pmid=8070812 |doi= |url=}}</ref> | ||
*Affected individuals generally present between 3 months to 3 years of age, with almost 90% becoming symptomatic by 5 years of age.<ref name="pmid16862044">{{cite journal |vauthors=Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD |title=X-linked agammaglobulinemia: report on a United States registry of 201 patients |journal=Medicine (Baltimore) |volume=85 |issue=4 |pages=193–202 |date=July 2006 |pmid=16862044 |doi=10.1097/01.md.0000229482.27398.ad |url=}}</ref> | *Affected individuals generally present between 3 months to 3 years of age, with almost 90% becoming symptomatic by 5 years of age.<ref name="pmid16862044">{{cite journal |vauthors=Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD |title=X-linked agammaglobulinemia: report on a United States registry of 201 patients |journal=Medicine (Baltimore) |volume=85 |issue=4 |pages=193–202 |date=July 2006 |pmid=16862044 |doi=10.1097/01.md.0000229482.27398.ad |url=}}</ref> | ||
*Presence of maternal | *Presence of maternal immunoglobulins provide transient protection, concealing symptoms of the disease and preventing early detection. | ||
*Physical examination typically shows absence of lymph nodes. | |||
*laboratory findings show defect in humoral immunity with absence of IgM, IgG, and IgA, as well as <2% of B cells lymphocytes. Neutropenia can also be seen. | |||
*Patients are susceptible to recurrent infections with encapsulated organisms and enteroviruses.<ref name="pmid19597006">{{cite journal |vauthors=Fried AJ, Bonilla FA |title=Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections |journal=Clin. Microbiol. Rev. |volume=22 |issue=3 |pages=396–414 |date=July 2009 |pmid=19597006 |pmc=2708392 |doi=10.1128/CMR.00001-09 |url=}}</ref> <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> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 17:42, 26 November 2018
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Immunodeficiency Main Page |
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
It is an X linked disease first discribed 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 protien Bruton tyrosine kinase,[1] which is mainly associated with the maturation and differentiation of the pre B cell. The disruption of this protein can therefore 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.
- laboratory findings show defect in humoral immunity with absence of IgM, IgG, and IgA, as well as <2% of B cells lymphocytes. Neutropenia can also be seen.
- Patients are susceptible to recurrent infections with encapsulated organisms and enteroviruses.[4] [1]
References
- ↑ 1.0 1.1 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.
- ↑ Rawlings DJ, Witte ON (April 1994). "Bruton's tyrosine kinase is a key regulator in B-cell development". Immunol. Rev. 138: 105–19. PMID 8070812.
- ↑ Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD (July 2006). "X-linked agammaglobulinemia: report on a United States registry of 201 patients". Medicine (Baltimore). 85 (4): 193–202. doi:10.1097/01.md.0000229482.27398.ad. PMID 16862044.
- ↑ Fried AJ, Bonilla FA (July 2009). "Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections". Clin. Microbiol. Rev. 22 (3): 396–414. doi:10.1128/CMR.00001-09. PMC 2708392. PMID 19597006.