has material basis in germline mutation in disease has feature AK2 Abnormal thymus morphology Decreased total lymphocyte count Severe combined immunodeficiency Congenital agranulocytosis reticular dysgenesis https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis https://www.malacards.org/card/reticular_dysgenesis SCID with leukopenia MESH:C538361 RD UMLS:C0272167 NANDO:2200695 generalized hematopoietic hypoplasia De Vaal disease GARD:0008625 reticular dysgenesis NANDO:1200322 OMIM:267500 Orphanet:33355 severe combined immunodeficiency with leukopenia MEDGEN:124417 SCTID:111584000 NCIT:C27070 Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. generalised haematopoietic hypoplasia DOID:0060020 congenital aleukocytosis haematopoietic hypoplasia, generalised MONDO:0009973 AK2 deficiency DeVaal disease T-B- severe combined immunodeficiency familial severe combined immunodeficiency