| Metadata | |
|---|---|
| ID | DOID:0111999 | 
| Name | immunodeficiency 61 | 
| Definition | A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.  https://pubmed.ncbi.nlm.nih.gov/29636373/  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         IMD61 [EXACT]  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a B cell deficiency  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |