ORPHA:70593
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Synonyms: SPAD · Selective anti-polysaccharide antibody deficiency · Specific anti-polysaccharide antibody deficiency · Specific polysaccharide antibody deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency due to selective anti-polysaccharide antibody deficiency | SPAD · Selective anti-polysaccharide antibody deficiency · Specific anti-polysaccharide antibody deficiency · Specific polysaccharide antibody deficiency |
| fr | Déficit immunitaire par déficit sélectif en anticorps anti-polysaccharide | Déficit spécifique en anticorps anti-polysaccharide · Déficit spécifique en anticorps polysaccharidiques · Déficit sélectif en anticorps anti-polysaccharides · Immunodéficience par déficit sélectif en anticorps anti-polysaccharide · SPAD |
| de | Immundefekt durch selektiven Antipolysaccharid-Antikörper-Mangel | SPAD · Spezifischer Antipolysaccharid-Antikörper-Mangel |
| es | Inmunodeficiencia por deficiencia selectiva de anticuerpos anti-polisacáridos | Deficiencia específica de anticuerpos anti-polisacáridos · Deficiencia específica de anticuerpos polisacáridos · Deficiencia selectiva de anticuerpos anti-polisacáridos · SPAD |
| it | Immunodeficienza da deficit selettivo di anticorpi anti-polisaccaridi | Deficit selettivo di anticorpi anti-polisaccaridi · Deficit specifico di anticorpi anti-polisaccaridi · Deficit specifico di anticorpi polisaccaridici · SPAD |
| nl | Immuundeficiëntie door selectieve deficiëntie van antipolysacharide-antilichaam | SPAD · Selectieve deficiëntie van antipolysacharide-antilichaam · Specifieke deficiëntie van antipolysacharide-antilichaam · Specifieke deficiëntie van polysacharide-antilichaam |
| pt | Imunodeficiência por deficiência seletiva de anticorpos anti-polissacarídeos | Deficiência seletiva de anticorpos anti-polissacarídeos · Deficiência seletiva de anticorpos polissacarídeos · SPAD |
| pl | Niedobór odporności związany z selektywnym niedoborem przeciwciał anty-polisacharydowych | = en |
| cs | Imunodeficience způsobená selektivním deficitem anti-polysacharidových protilátek | = en |
| uk | Імунодефіцит внаслідок селективного дефіциту антиполісахаридних антитіл | Селективний дефіцит антиполісахаридних антитіл · SPAD · Специфічний дефіцит антиполісахаридних антитіл · Дефіцит специфічних полісахаридних антитіл |
| zh | 选择性抗多糖抗体缺乏所致免疫缺陷 | 选择性抗多糖抗体缺乏症 |
| tr | Selektif anti-polisakkarit antikor eksikliğine bağlı immün yetmezlik | Spesifik anti-polisakkarit antikor eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D80.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.02 | NTBT | index | validated |
| MONDO | 0019093 | E | validated | |
| UMLS | C0398712 | E | validated | |
| GARD | 11903 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:169443Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
rare genetic diseases; rare immunological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_28588580[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
19 annotations · validated 2021-01-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0410303 | Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine | |
| HP:0410300 | Complete or near-complete absence of specific antibody response to pneumococcus vaccine | |
| HP:0410299 | Decreased specific antibody response to polysaccharide vaccine | |
| HP:0410302 | Decreased specific antibody response to protein-conjugated polysaccharide vaccine | |
| HP:0002848 | Specific anti-polysaccharide antibody deficiency | |
| Frequent (79-30%) | ||
| HP:0030374 | Decreased proportion of memory B cells | |
| HP:0000388 | Otitis media | |
| HP:0031949 | Recurrent bacterial upper respiratory tract infections | |
| HP:0200117 | Recurrent upper and lower respiratory tract infections | |
| HP:0012384 | Rhinitis | |
| HP:0000246 | Sinusitis | |
| Occasional (29-5%) | ||
| HP:0002099 | Asthma | |
| HP:0001047 | Atopic dermatitis | |
| HP:0010976 | Decreased total B cell count | |
| HP:0007274 | Recurrent bacterial meningitis | |
| Excluded (0%) | ||
| HP:0410240 | Abnormal IgA level | |
| HP:0410242 | Abnormal IgG level | |
| HP:0410243 | Abnormal IgM level | |
| HP:0410295 | Complete or near-complete absence of specific antibody response to tetanus vaccine | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 11445810[PMID]_28588580[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/70593
- This record as JSON: /data/d/70593.json