PanelApp
  1. Panels
  2. Predominantly Antibody Deficiency
Description
This panel contains genes that cause predominantly antibody deficiency, including:
- Agammaglobulinemia
- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia 
- CVID Phenotype
- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM
- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells

Updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.

This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).
Panel Activity

13 reviewers

  • Abhijit Kulkarni (Monash Genetics)

  • Samantha Ayres (Victorian Clinical Genetics Services)

  • Arina Puzriakova (Genomics England)

  • Danielle Ariti (University of Melbourne)

  • Sarah Leigh (Genomics England)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Peter McNaughton (Queensland Children's Hospital)

  • Achchuthan Shanmugasundram (Genomics England)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

58 Entities

58 reviewed, 42 green

List Entity Reviews Mode of inheritance Details
58 Entitiess
Green Green List (high evidence)
AICDA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2, MIM# 605258
Tags
Green Green List (high evidence)
ATP6AP1
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 47, MIM# 300972
  • Hepatopathy
  • Leukopenia
  • Low copper
Tags
Green Green List (high evidence)
BLNK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia 4, MIM# 613502
Tags
  • treatable
Green Green List (high evidence)
BTK
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia, X-linked 1, MIM# 300755
  • Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Tags
  • treatable
Green Green List (high evidence)
CARD11
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD19
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 3, MIM# 613493
Tags
Green Green List (high evidence)
CD79A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia 3, MIM#613501
Tags
  • treatable
Green Green List (high evidence)
CD79B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia 6, MIM# 612692
Tags
  • treatable
Green Green List (high evidence)
CD81
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 6, MIM# 613496
Tags
Green Green List (high evidence)
CR2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 7, MIM# 614699
Tags
Green Green List (high evidence)
CXCR4
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DNMT3B
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
  • treatable
Green Green List (high evidence)
FNIP1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertrophic Cardiomyopathy
  • Primary Immunodeficiency
  • Agammaglobulinemia
  • Neutropenia
  • Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Tags
Green Green List (high evidence)
IGHM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Agammaglobulinemia 1, MIM# 601495
Tags
Green Green List (high evidence)
IGLL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia 2, MIM# 613500
Tags
Green Green List (high evidence)
IKZF1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 13, MIM# 616873
  • Low IgG, IgA, IgM, low or normal B cells
  • B cells and Ig levels reduce with age
  • Decreased pro-B cells
  • Recurrent sinopulmonary infections
  • Increased risk of ALL, autoimmunity
Tags
Green Green List (high evidence)
IRF2BP2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 14, MIM# 617765
Tags
Green Green List (high evidence)
KARS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893
Tags
Green Green List (high evidence)
MOGS
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIb, MIM# 606056
Tags
Green Green List (high evidence)
NFKB1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 12 MIM# 616576
  • Normal-low IgG, IgA, IgM
  • low-normal B cells
  • low switched memory B cells
  • hypogammaglobulinaemia
  • recurrent respiratory and gastrointestinal infections
  • Chronic obstructive pulmonary disease COPD
  • EBV proliferation
  • autoimmunity
  • alopecia
Tags
Green Green List (high evidence)
NFKB2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 10 MIM# 615577
  • Low serum IgG, IgA, IgM
  • low B cell numbers
  • low switched memory B cells
  • Recurrent sinopulmonary infections, Alopecia
  • endocrinopathies
  • ACTH deficiency
Tags
Green Green List (high evidence)
OAS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Tags
Green Green List (high evidence)
PIK3CD
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 14, MIM# 615513
Tags
Green Green List (high evidence)
PIK3R1
2 reviews
2 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • PTEN hamartoma tumor syndrome MONDO:0017623
Tags
Green Green List (high evidence)
RAC2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Green
Phenotypes
  • SCID
  • recurrent bacterial and viral infections
  • lymphoproliferation
  • neutropaenia
  • reticular dysgenesis
  • deafness
  • selective IgA deficiency
  • Reduced Ab responses following vaccination
Tags
Green Green List (high evidence)
SEC61A1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
  • Immunodeficiency, common variable, 15, MIM# 620670
Tags
Green Green List (high evidence)
SENP7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Tags
Green Green List (high evidence)
SH2D1A
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SKIV2L
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Trichohepatoenteric syndrome 2, MIM#614602
Tags
Green Green List (high evidence)
SLC39A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
  • Antibody deficiency
  • early onset infections
  • blistering dermatosis
  • failure to thrive
  • thrombocytopaenia
Tags
Green Green List (high evidence)
SP110
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SPI1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Tags
Green Green List (high evidence)
TCF3
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
  • Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Tags
Green Green List (high evidence)
TNFRSF13B
2 reviews
1 green 		Other
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 2, MIM# 240500
Tags
Green Green List (high evidence)
TOP2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
  • Antibody deficiency
  • Recurrent infections
  • Facial dysmorphism
  • Limb anomalies
Tags
Green Green List (high evidence)
TRNT1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TTC37
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
UNG
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WAS
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WIPF1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiskott-Aldrich syndrome 2 MIM# 614493
  • Reduced T cells
  • defective lymphocyte responses to anti-CD3
  • high IgE
  • Thrombocytopenia with or without small platelets
  • recurrent bacterial and viral Infections
  • eczema
  • bloody diarrhoea
  • gastrointestinal bleeding
  • WAS protein absent
Tags
Green Green List (high evidence)
XIAP
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Tags
Amber Amber List (moderate evidence)
ARHGEF1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 62, MIM#618459
Tags
Amber Amber List (moderate evidence)
CTNNBL1
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • common variable immunodeficiency MONDO:0015517
Tags
Amber Amber List (moderate evidence)
IGKC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
Tags
Amber Amber List (moderate evidence)
INO80
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Primary immunodeficiency, MONDO:0003778
Tags
Amber Amber List (moderate evidence)
MS4A1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 5, MIM# 613495
Tags
Amber Amber List (moderate evidence)
PAX5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, PAX5-related
  • Hypogammaglobulinaemia
Tags
Amber Amber List (moderate evidence)
PIK3CG
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 97 with autoinflammation, MIM# 619802
  • Humoral deficiency
  • Immune dysregulation
  • HLH
Tags
Amber Amber List (moderate evidence)
POU2AF1
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Agammaglobulinaemia, MONDO:0015977, POU2AF1-related
Tags
Amber Amber List (moderate evidence)
SH3KBP1
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 61, MIM# 300310
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
TNFRSF13C
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 4, MIM# 613494
Tags
Red Red List (low evidence)
BCAS2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyper IgM syndrome, MONDO:0003947, BCAS2-related
Tags
Red Red List (low evidence)
BLK
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Common variable immunodeficiency, MONDO:0015517
Tags
Red Red List (low evidence)
MSH6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Mismatch repair cancer syndrome 3 MIM#619097
  • constitutional mismatch repair deficiency
  • immunodeficiency
Tags
Red Red List (low evidence)
NFKBID
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
TNFSF12
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Inborn error of immunity, MONDO:0003778, TNFSF12-related
Tags
Red Red List (low evidence)
TNFSF13
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related
Tags

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