Severe Congenital Neutropenia (SCN)
Severe congenital neutropenia (SCN) is a rare disorder present from birth where the body makes far too few neutrophils, the white blood cells that first fight bacteria and many fungi. Because ...
Rx Blood, Metabolism, and Hormonal Diseases (A – Z)
Congenital Isolated Growth Hormone Deficiency Type II
Congenital isolated growth hormone deficiency type II is a genetic condition that mainly affects a child’s growth. “Congenital” means present from birth. “Isolated” means only the growth hormone ...
Hereditary Hypophosphatemic Rickets (HHR)
Hereditary hypophosphatemic rickets (HHR) is a group of genetic disorders where the kidneys lose too much phosphate in the urine. Low blood phosphate makes bones soft: in children this causes rickets ...
Familial Hypocalcemia
Familial hypocalcemia is a rare, inherited condition where the body keeps blood calcium too low even when the person eats and absorbs enough calcium. It usually happens because a calcium sensor in ...
Autosomal Dominant Aplastic Anemia and Myelodysplasia
Autosomal dominant aplastic anaemia and myelodysplasia describes a family of inherited bone-marrow failure conditions in which a single faulty copy of a gene (inherited in an autosomal dominant ...
Agammaglobulinemia Non-Bruton Type
Agammaglobulinemia, non-Bruton type (also called autosomal agammaglobulinemia) is a rare, inherited immune system condition where a child is born with a near-absence of mature B-cells, the cells that ...
Behçet-Like Disease Due to A20 Haploinsufficiency (HA20)
Behçet-like disease due to A20 haploinsufficiency (HA20) is a rare, inherited immune system problem caused by having only half the normal working amount of a protein called A20, which is made by the ...
Autoinflammatory Syndrome with Pyogenic Bacterial Infection and Amylopectinosis
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is a very rare inherited disease in which the immune system is wired incorrectly from birth. Children usually develop ...
Immune Thrombocytopenic Purpura (ITP)
Immune thrombocytopenic purpura (ITP) is an autoimmune blood disorder where the immune system mistakenly attacks platelets—the tiny cell fragments that stop bleeding—so the platelet count falls and ...
Idiopathic Thrombocytopenia
Idiopathic thrombocytopenia—now more accurately called Immune Thrombocytopenia (ITP)—is an autoimmune bleeding disorder where the body’s own immune system mistakenly attacks and destroys platelets, ...
Caspase-8 Deficiency Syndrome
Caspase-8 Deficiency Syndrome—also called caspase-eight deficiency state (CEDS)—is a very rare, inherited immune-system disorder caused by harmful changes (mutations) in the CASP8 gene. Caspase-8 is ...
Warm Autoimmune Hemolytic Anemia (wAIHA)
Warm autoimmune hemolytic anemia (wAIHA) is a disease where your immune system makes IgG antibodies that attach to your red blood cells (RBCs) at normal body temperature (“warm”). These coated RBCs ...
TRIANGLE Disease
TRIANGLE disease (the TPPII-related immunodeficiency with autoimmunity and neurodevelopmental delay) is a very rare genetic condition that affects the immune system and brain development. The short ...
Neurodevelopmental Delay with Impaired Glycolysis and Lysosomal Expansion Disease
Neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease is a condition describes children (and sometimes adults) who learn and grow more slowly than expected because their ...
Autoimmune Thrombocytopenia–Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia–primary immunodeficiency syndrome means a person has very low platelets because the immune system is attacking their own platelets, and this problem happens together with ...
Atypical Hypotonia-Cystinuria Syndrome
Atypical hypotonia-cystinuria syndrome is a very rare, inherited condition that combines weak muscle tone from birth (hypotonia) with a kidney transport problem called cystinuria, which causes ...
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