Infantile LAD-like disease due to RAC2 deficiency
Synonyms: Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile LAD-like disease due to RAC2 deficiency | Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency |
| fr | Maladie DAL-like infantile par déficit en RAC2 | Maladie de déficit d'adhésion leucocytaire-like infantile par déficit en protéine Rac family small GTPase |
| de | Infantile LAD-artige Erkrankung aufgrund RAC2-Defizienz | |
| es | Enfermedad similar a la LAD infantil por deficiencia de RAC2 | Deficiencia de adhesión leucocitaria infantil por deficiencia de Rac2 GTPasa |
| it | Malattia simil-LAD infantile da deficit di RAC2 | Deficit infantile di adesione leucocitaria da deficit della piccola GTPasi 2 della famiglia Rac |
| nl | Infantiele LAD-achtige ziekte door RAC2-deficiëntie | Infantiele deficiëntie van leukocytenadhesie door deficiëntie van 'Rac family small GTPase 2' · Infantiele leukocytenadhesiedeficiëntie door RAC2-deficiëntie |
| pt | Doença infantil LAD-like devido a deficiência RAC2 | Deficiência de adesão leucocitária infantil devido a deficiência de GTPase pequena da família Rac |
| pl | Choroba podobna do LAD u dzieci spowodowana niedoborem RAC2 | = en |
| cs | Deficit RAC2 GTPázy | = en |
| uk | Інфантильна LAD-подібна хвороба, спричинена дефіцитом RAC2 | Дефіцит адгезії лейкоцитів у немовлят, спричинений дефіцитом малої ГТФази 2 родини Rac |
| zh | 中性粒细胞免疫缺陷综合征 | |
| tr | Nötrofil immün yetmezlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608203 | E | validated | |
| ICD-10 | D71 | NTBT | attributed | validated |
| ICD-11 | 4A00.00 | E | specific | validated |
| MONDO | 0011988 | E | validated | |
| MeSH | C564275 | E | validated | |
| UMLS | C5924996 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:674896Non-syndromic congenital phagocyte functional defect
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9802 | ENSG00000128340 | 602049 | 22q13.1 | Rac family small GTPase 2 | 10758162[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 10758162[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10758162[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.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011990 | Abnormality of neutrophil physiology | |
| HP:0002721 | Immunodeficiency | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001058 | Poor wound healing | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183707
- This record as JSON: /data/d/183707.json