These syndrome subtypes are phenotypically similar despite arising from different gene abnormalities.Kostmann disease is a form of severe congenital neutropenia (SCN), specifically type 3 (SCN3), which is a rare autosomal recessive condition in which severe  chronic  neutropenia is detected soon after birth. The disorder was discovered in 1956 in an extended family in northern Sweden by Rolf Kostmann, a Swedish doctor.Although mutations of more than 15 genes cause severe congenital neutropenia (in a general sense) not all of these are usually considered as SCN. Clinical usage excludes two broad categories of congenital neutropenia. Diseases are excluded that overtly affect multiple systems rather than impacting myelopoiesis most prominently. Thus SCN excludes the severe neutropenia which can occur in congenital diseases such as Shwachman–Diamond syndrome, Barth syndrome, Chédiak–Higashi syndrome, WHIM syndrome, and glycogen storage disease type Ib. A further group of other miscellaneous inherited disorders, such as hyper IgM syndrome, Hermansky–Pudlak syndrome (HPS), Griscelli syndrome (GS), PN, P14 deficiency, Cohen syndrome, Charcot–Marie–Tooth disease (CMT) can show congenital neutropenia, but lack bone marrow findings typical of SCN.This group of diseases may also have additional features such as partial albinism, retinopathy, or neuropathy, and are not inclined to degenerate into acute myelogenous leukemia. GATA2 deficiency
GATA2 deficiency is a grouping of several disorders caused by common defect, viz., familial or sporadic inactivating mutations in one of the two parental GATA2 genes. These autosomal dominant mutations cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the genes product, GATA2.
Acquired cystic kidney disease-associated renal cell carcinoma is rare subtype of renal cell carcinoma. It is most commonly seen in people with end-stage kidney disease who have a much higher risk of developing acquired cystic kidney disease (ACKD). Affected individuals have small kidneys with several cysts and their risk of renal cell carcinoma is 30 times higher than people without ACKD. Bloody urine and flank pain in a person with end-stage kidney disease raise suspicion for ACKD-associated renal cell carcinoma. Although people with ACKD have a substantially higher risk of renal cell carcinoma, routine screening is not recommended. ACKD-associated renal cell carcinoma is an uncommon cause of death for people with end-stage kidney disease. References


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