Predominantly antibody deficiency

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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

Predominantly antibody deficiency is classified based on the phenotypical classification of primary immunodeficiency diseases by the IUIS PID expert committee. It mainly focuses on the clinical features, the immunological irregularity, and the disease causing genes.

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