MCID: SPC022
MIFTS: 25

Specific Antibody Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Specific Antibody Deficiency

MalaCards integrated aliases for Specific Antibody Deficiency:

Name: Specific Antibody Deficiency 20 70
Immunodeficiency Due to Selective Anti-Polysaccharide Antibody Deficiency 20 58
Selective Antibody Deficiency with Normal Immunoglobulins 20
Specific Anti-Polysaccharide Antibody Deficiency 58
Impaired Polysaccharide Responsiveness 20
Partial Antibody Deficiency 20

Characteristics:

Orphanet epidemiological data:

58
immunodeficiency due to selective anti-polysaccharide antibody deficiency
Inheritance: Multigenic/multifactorial; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 D80.8
Orphanet 58 ORPHA70593
UMLS 70 C0398711

Summaries for Specific Antibody Deficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70593 Definition Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR). Epidemiology Although the prevalence is not really known, around 100 cases have been reported in the literature, indicating that this syndrome is a rare primary immunodeficiency. Approximately 60% of patients are male. Clinical description The onset of the disease generally occurs during childhood, between 2 to 7 years of age. Patients suffer from recurrent bacterial infections, mostly of the respiratory tract. The offending bacteria are those with a polysaccharide capsule, such as pneumococci, Hemophilus influenzae, meningococci and group B streptococci. Sepsis and meningitis occur less frequently. Allergic manifestations are observed in half of the patients. Etiology This immunodeficiency is likely heterogeneous with multiple causes. Genetic factors may play a role, as indicated by the observation of a higher prevalence in certain ethnic populations and of some familial cases. Several hypotheses have been proposed concerning the cause of the disease, but the most likely is a defect in splenic marginal zone B cells. Indeed, polysaccharide antigens are concentrated and presented to B cells by the dendritic cells within the spleen marginal zone. In favour of this hypothesis is the observation of an impaired polysaccharide antibody response in splenectomized patients. Diagnostic methods The diagnosis is established by identifying deficient antibody response to polysaccharide antigens (usually Haemophilus influenzae b vaccine) contrasting with normal immunoglobulin (including the IgG subclasses) levels and unaffected antibody production to protein antigens (tetanus toxoid, diphtheria). As most children under 2 years of age have a physiological defect in response to polysaccharide antigens, the diagnosis cannot be assessed before this age. Differential diagnosis The differential diagnosis should exclude other primary immunodeficiencies also characterized by a defective response to polysaccharide antigens, essentially the IgG2-IgG4 deficiency. A defect in antibody production to polysaccharides may be associated with the Wiskott-Aldrich syndrome or Common Variable Immuno Deficiency (CVID). Recently, an adult patient with Btk-deficiency has been reported as only affected by impaired polysaccharide responsiveness. Management and treatment Besides their use for controlling infections, antibiotics should also be given as a prophylactic treatment. Immunoglobulin substitution could also be of benefit whenever prophylactic antibiotherapy fails. Vaccination with the conjugate antipneumococcal vaccine is also required. Prognosis Under treatment, infections are generally well controlled. However, patients should be carefully followed-up since this condition can evolve into a more severe immunodeficiency (IgG subclass deficiency or CVID).

MalaCards based summary : Specific Antibody Deficiency, also known as immunodeficiency due to selective anti-polysaccharide antibody deficiency, is related to specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of b cells and allergic rhinitis. An important gene associated with Specific Antibody Deficiency is PGM3 (Phosphoglucomutase 3). Affiliated tissues include b cells and spleen, and related phenotypes are complete or near-complete absence of specific antibody response to haemophilus influenzae type b (hib) vaccine and decreased specific anti-polysaccharide antibody level

Related Diseases for Specific Antibody Deficiency

Graphical network of the top 20 diseases related to Specific Antibody Deficiency:



Diseases related to Specific Antibody Deficiency

Symptoms & Phenotypes for Specific Antibody Deficiency

Human phenotypes related to Specific Antibody Deficiency:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 complete or near-complete absence of specific antibody response to haemophilus influenzae type b (hib) vaccine 58 31 hallmark (90%) Very frequent (99-80%) HP:0410303
2 decreased specific anti-polysaccharide antibody level 31 hallmark (90%) HP:0002848
3 complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine 31 hallmark (90%) HP:0410300
4 sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0000246
5 otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000388
6 rhinitis 58 31 frequent (33%) Frequent (79-30%) HP:0012384
7 recurrent upper and lower respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0200117
8 decreased proportion of memory b cells 58 31 frequent (33%) Frequent (79-30%) HP:0030374
9 recurrent bacterial upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0031949
10 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
11 b lymphocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010976
12 atopic dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001047
13 recurrent bacterial meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007274
14 specific anti-polysaccharide antibody deficiency 58 Very frequent (99-80%)
15 decreased specific antibody response to polysaccharide vaccine 58 Very frequent (99-80%)
16 complete or near-complete absence of specific antibody response to pneumococcus vaccine 58 Very frequent (99-80%)
17 decreased specific antibody response to protein-conjugated polysaccharide vaccine 58 Very frequent (99-80%)
18 abnormal iga level 58 Excluded (0%)
19 abnormal igg level 58 Excluded (0%)
20 abnormal igm level 58 Excluded (0%)
21 complete or near-complete absence of specific antibody response to tetanus vaccine 58 Excluded (0%)

Drugs & Therapeutics for Specific Antibody Deficiency

Search Clinical Trials , NIH Clinical Center for Specific Antibody Deficiency

Genetic Tests for Specific Antibody Deficiency

Anatomical Context for Specific Antibody Deficiency

MalaCards organs/tissues related to Specific Antibody Deficiency:

40
B Cells, Spleen

Publications for Specific Antibody Deficiency

Articles related to Specific Antibody Deficiency:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Antibody deficiencies are more common in adult versus pediatric recurrent acute rhinosinusitis. 61
33812207 2021
2
Specific Antibody Deficiency in Adult Patients With IgG or IgG Subclass Deficiency. 61
33474861 2021
3
Bronchiectasis severity correlates with outcome in patients with primary antibody deficiency. 61
33632768 2021
4
Infection Phenotypes Among Patients with Primary Antibody Deficiency Mined from a US Patient Registry. 61
33205244 2021
5
Comparison of management options for specific antibody deficiency. 61
33404392 2021
6
Phenotypic analysis of T follicular helper and T follicular regulatory cells in primary selective IgM deficiency. 61
32773096 2020
7
Diagnosis and management of Specific Antibody Deficiency. 61
32654695 2020
8
Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum. 61
32239366 2020
9
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment. 61
31977656 2020
10
Prophylactic Antibiotics Versus Immunoglobulin Replacement in Specific Antibody Deficiency. 61
31758281 2020
11
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions. 61
31707513 2020
12
Comparison of Two Different Criteria for Specific Antibody Deficiency in Patients With Chronic and Recurrent Rhinosinusitis. 61
33403153 2020
13
Low Baseline Pneumococcal Antibody Titers Predict Specific Antibody Deficiency, Increased Upper Respiratory Infections, and Allergy Sensitization. 61
32030313 2020
14
The clinical implications of selective IgA deficiency. 61
32743511 2019
15
Using only a subset of pneumococcal serotypes is reliable for the diagnosis of specific antibody deficiency in children: A proof-of-concept study. 61
30681739 2019
16
Specific Antibody Deficiencies in Clinical Practice. 61
30682575 2019
17
Reconstitution of IgG Subclasses following Immunoglobulin Therapy in Adult Primary Hypogammaglobulinemia. 61
31509832 2019
18
Comprehensive clinical and immunological features of 62 adult patients with selective primary IgM deficiency. 61
31970029 2019
19
Screening for Humoral Immunodeficiency in Patients with Community-Acquired Pneumonia. 61
30534641 2019
20
Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy. 61
30536429 2018
21
The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data. 61
30419968 2018
22
Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome. 61
28938254 2018
23
Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults. 61
29867917 2018
24
Corrigendum: Specific Antibody Deficiency: Controversies in Diagnosis and Management. 61
29576764 2018
25
The Clinical Utility of Measuring IgG Subclass Immunoglobulins During Immunological Investigation for Suspected Primary Antibody Deficiencies. 61
29126302 2017
26
Pneumococcal 13-valent conjugate vaccine administration after inferior response to pneumococcal vaccine. 61
28814356 2017
27
The Clinical Significance of Specific Antibody Deficiency (SAD) Severity in Chronic Rhinosinusitis (CRS). 61
28132798 2017
28
X-Box Binding Protein-1 Dependent Plasma Cell Responses Limit the Development of Atherosclerosis. 61
28620068 2017
29
[Specific antibody deficiency: Primary immunodeficiency associated to respiratory allergy]. 61
27614984 2017
30
Defective pneumococcal antibody response in patients with recurrent respiratory tract infections. 61
29745117 2017
31
Selective IgM Deficiency-An Underestimated Primary Immunodeficiency. 61
28928736 2017
32
Specific Antibody Deficiency: Controversies in Diagnosis and Management. 61
28588580 2017
33
Case report on a defective antibody response against pneumococcal serotype 9V in a patient with a single episode of pneumonia. 61
29119074 2017
34
Immunoglobulin replacement therapy reduces chronic rhinosinusitis in patients with antibody deficiency. 61
27552393 2017
35
Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD). 61
28212436 2017
36
Fecal microbial transplantation in a pediatric case of recurrent Clostridium difficile infection and specific antibody deficiency. 61
27496525 2016
37
Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans. 61
27365489 2016
38
Response to pneumococcal polysaccharide vaccine in children with asthma, and children with recurrent respiratory infections, and healthy children. 61
27255476 2016
39
Gingival Inflammation and Aggressive Periodontitis in a Child with a Specific Antibody Deficiency. 61
27188128 2016
40
The Immune Phenotype of Patients with CHARGE Syndrome. 61
26563674 2016
41
Immunoglobulin deficiency in patients with chronic rhinosinusitis: Systematic review of the literature and meta-analysis. 61
26329513 2015
42
Specific Antibody Deficiencies. 61
26454312 2015
43
Specific antibody deficiency with normal immunoglobulin concentration in children with recurrent respiratory infections. 61
25498324 2015
44
Immunodeficiency in chronic sinusitis: recognition and treatment. 61
25785751 2015
45
Clinical characteristics of adults with chronic rhinosinusitis and specific antibody deficiency. 61
25609325 2015
46
Modulatory role of intravenous gammaglobulin (IgIV) on the in vitro antibody response to a pneumococcal polysaccharide antigen. 61
25504423 2015
47
Antibody levels to Bordetella pertussis and Neisseria meningitidis in immunodeficient patients receiving immunoglobulin replacement therapy. 61
25631528 2015
48
[Specific antibody deficiency: cases serie]. 61
25362922 2014
49
Long-term evaluation of a historical cohort of Iranian common variable immunodeficiency patients. 61
25225775 2014
50
AAOA allergy primer: immunodeficiency. 61
25182361 2014

Variations for Specific Antibody Deficiency

Expression for Specific Antibody Deficiency

Search GEO for disease gene expression data for Specific Antibody Deficiency.

Pathways for Specific Antibody Deficiency

GO Terms for Specific Antibody Deficiency

Sources for Specific Antibody Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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