Primary immunodeficiency syndrome due to p14 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Primary immunodeficiency syndrome with short stature
Number of Symptoms 22
OrphanetNr: 90023
OMIM Id: 610798
ICD-10: D82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional neutropenia with extra-haematopoietic manifestations
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
2
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
3
(HPO:0001022) Albinism Very frequent [Orphanet] 43 / 7739
4
(HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
5
(HPO:0002850) IgM deficiency 18 / 7739
6
(HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
7
(HPO:0004332) Abnormality of lymphocytes Very frequent [Orphanet] 12 / 7739
8
(HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
9
(HPO:0001875) Neutropenia 83 / 7739
10
(HPO:0006538) Recurrent bronchopulmonary infections 6 / 7739
11
(HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
12
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
13
(OMIM) Recurrent bronchopulmonary infections due to Streptococcus pneumoniae 1 / 7739
14
(OMIM) Increased percentage of naive IgD+ IgM+ CD27- B cells 1 / 7739
15
(OMIM) Decreased serum IgM 4 / 7739
16
(OMIM) Low IgG in adolescence (2 of 4 affected individuals) 1 / 7739
17
(OMIM) Decreased cytotoxic activity of CD8+ T cells 1 / 7739
18
(OMIM) Low peripheral neutrophil counts (absolute neutrophil count less than 500/microliter) 1 / 7739
19
(OMIM) Neutrophil maturation in bone marrow intact 1 / 7739
20
(OMIM) Increased total number of CD19+ B cells 1 / 7739
21
(OMIM) Decreased percentage of IgD+ IgM+ CD27+ memory B cells 1 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bohn et al. (2007) described 4 of 15 sibs from a Caucasian Mennonite family who showed a characteristic clinical phenotype associating short stature, hypopigmented skin, coarse facial features, and recurrent bronchopulmonary infections due to Streptococcus pneumoniae. Affected individuals ...
Molecular genetics OMIM Bohn et al. (2007) performed genomewide linkage analysis in a Caucasian Mennonite family with a primary immunodeficiency syndrome and found significant linkage on chromosome 1q21-q23 between D1S498 and D1S1153. Sequencing of 19 genes in the maximal possible linkage ...