Predominantly antibody deficiency: Difference between revisions
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(Created page with "__NOTOC__ {{ID}} {{CMG}}; {{AE}} {{Akram}}, {{Anmol}} ==Overview== ==Classification== {{Family tree/start}} {{Family tree | | | A01 | | |A01=Predominantly antibody deficien...") |
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===Hypogammaglobulinemia=== | ===Hypogammaglobulinemia=== | ||
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{{Family tree | | | | | | | A01 | | |A01=Predominantly antibody deficiencies<br>(A): Hypogammaglobulinemia}} | {{Family tree | | | | | | | A01 | | |A01=Predominantly antibody deficiencies<br>(A): Hypogammaglobulinemia}} | ||
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{{Family tree | | |,|-|-|-|-|^|-|-|.| |}} | {{Family tree | | |,|-|-|-|-|^|-|-|.| |}} | ||
{{Family tree | | D01 | | | | | D02 | |D01=B absent|D02= B >1%}} | {{Family tree | | D01 | | | | | D02 | |D01=B absent|D02= B >1%}} | ||
{{Family tree | |!| | | | | |,|-|^| | {{Family tree | |!| | | | | |,|-|^|.| | | | |}} | ||
{{Family tree | |)| E01 | | F01 | | | G01 | |E01=X-Linked Agammaglobulinemia|F01=Common Variable Immunodeficiency Phenotype|G01=CD19 deficiency}} | {{Family tree | |)| E01 | | F01 | |)| G01 | |E01=X-Linked Agammaglobulinemia|F01=Common Variable Immunodeficiency Phenotype|G01=CD19 deficiency}} | ||
{{Family tree | |!| | | | |!| | | | | | | {{Family tree | |!| | | | |!| | | |!| | | | |}} | ||
{{Family tree | |)| E02 | |)| F02 | | G02 | |E02=µ heavy chain Def|F02=CVID with no gene defect specified|G02=CD20 deficiency}} | {{Family tree | |)| E02 | |)| F02 |)| G02 | |E02=µ heavy chain Def|F02=CVID with no gene defect specified|G02=CD20 deficiency}} | ||
{{Family tree | |!| | | | |!| | | | | | | {{Family tree | |!| | | | |!| | | |!| | | | |}} | ||
{{Family tree | |)| E03 | |)| F03 | | G03 | |E03=Igα def|F03=PIK3CD mutation(GOF),PIK3R1 deficiency(LOF)|G03=CD21 deficiency}} | {{Family tree | |)| E03 | |)| F03 |)| G03 | |E03=Igα def|F03=PIK3CD mutation(GOF),PIK3R1 deficiency(LOF)|G03=CD21 deficiency}} | ||
{{Family tree | |!| | | | |!| | | | | | | {{Family tree | |!| | | | |!| | | |!| | | | |}} | ||
{{Family tree | |)| E04 | |)| F04 | | G04 | |E04=Igβ def|F04=PTEN deficiency(LOF)|G04=TRNT1 deficiency}} | {{Family tree | |)| E04 | |)| F04 |)| G04 | |E04=Igβ def|F04=PTEN deficiency(LOF)|G04=TRNT1 deficiency}} | ||
{{Family tree | |!| | | | |!| | | | | | | {{Family tree | |!| | | | |!| | | |!| | | | |}} | ||
{{Family tree | |)| E05 | |)| F05 | | G05 | |E05=BLNK def|F05=CD81 deficiency|G05=NFKB1 deficiency}} | {{Family tree | |)| E05 | |)| F05 |)| G05 | |E05=BLNK def|F05=CD81 deficiency|G05=NFKB1 deficiency}} | ||
{{Family tree | |!| | | | |!| | | | | | | {{Family tree | |!| | | | |!| | | |!| | | | |}} | ||
{{Family tree | |)| E06 | |)| F06 | | G06 | |E06=λ5 def|F06=TACI deficiency|G06=NFKB2 deficiency}} | {{Family tree | |)| E06 | |)| F06 |)| G06 | |E06=λ5 def|F06=TACI deficiency|G06=NFKB2 deficiency}} | ||
{{Family tree | |!| | | | |!| | | | | | | {{Family tree | |!| | | | |!| | | |!| | | | |}} | ||
{{Family tree | |)| E07 | |)| F07 | | G07 | |E07=PI3KR1 def|F07=BAFF receptor deficiency|G07=IKAROS deficiency}} | {{Family tree | |)| E07 | |)| F07 |)| G07 | |E07=PI3KR1 def|F07=BAFF receptor deficiency|G07=IKAROS deficiency}} | ||
{{Family tree | |!| | | | |!| | | | | | | {{Family tree | |!| | | | |!| | | |!| | | | |}} | ||
{{Family tree | |`| E08 | |)| F08 | | G08 | |E08=E47 transcription factor def|F08=TWEAK deficiency|G08=ATP6AP1 deficiency}} | {{Family tree | |`| E08 | |)| F08 |)| G08 | |E08=E47 transcription factor def|F08=TWEAK deficiency|G08=ATP6AP1 deficiency}} | ||
{{Family tree | | | | | | |!| | | | | | | | |}} | {{Family tree | | | | | | |!| | | | | | | | |}} | ||
{{Family tree | | | | | | |)| F09 | | | | | |F09=Mannosyl-oligosaccharide glucosidase deficiency (MOGS)}} | {{Family tree | | | | | | |)| F09 | | | | | |F09=Mannosyl-oligosaccharide glucosidase deficiency (MOGS)}} | ||
Revision as of 16:01, 11 October 2018
|
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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||