AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT
AGM4
Number of Symptoms 16
OrphanetNr:
OMIM Id: 613502
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011109) Chronic sinusitis 17 / 7739
2
(HPO:0000403) Recurrent otitis media 61 / 7739
3
(HPO:0002014) Diarrhea 225 / 7739
4
(HPO:0004432) Agammaglobulinemia 17 / 7739
5
(HPO:0001875) Neutropenia 83 / 7739
6
(HPO:0006532) Recurrent pneumonia 48 / 7739
7
(HPO:0002205) Recurrent respiratory infections 254 / 7739
8
(HPO:0002718) Recurrent bacterial infections 75 / 7739
9
(OMIM) Decreased or absent pre-B cells 2 / 7739
10
(OMIM) Normal numbers and function of T cells 4 / 7739
11
(OMIM) Hypogammaglobulinemia, profound 5 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Block at the pro-B to pre-B stage of differentiation 2 / 7739
14
(HPO:0003593) Infantile onset 249 / 7739
15
(OMIM) Inability to mount antibody response to antigen 4 / 7739
16
(OMIM) Absent or severely reduced numbers of B cells 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Minegishi et al. (1999) reported a boy with immunodeficiency associated with absent pre-B and mature B cells, but normal numbers of pro-B cells. The defect thus occurred at the pro-B to pre-B cell transition stage. The patient had ...
Molecular genetics OMIM In a patient with agammaglobulinemia-4, Minegishi et al. (1999) identified a homozygous splice defect in the BLNK gene (604515.0001). The patient's mother and father, who were heterozygous for the mutation, were healthy and had normal concentrations of serum ...