Fever, and Pancytopenia

Diseases related with Fever and Pancytopenia

In the following list you will find some of the most common rare diseases related to Fever and Pancytopenia that can help you solving undiagnosed cases.

Top matches:

Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.

PRIMARY MYELOFIBROSIS Is also known as myelofibrosis with myeloid metaplasia|idiopathic myelofibrosis|agnogenic myeloid metaplasia|osteomyelofibrosis

Related symptoms:

  • Fever
  • Fatigue
  • Splenomegaly
  • Hepatosplenomegaly
  • Pallor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MYELOFIBROSIS

Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (OMIM )-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Is also known as hplh3|hlh3

Related symptoms:

  • Anemia
  • Fever
  • Hepatosplenomegaly
  • Pancytopenia
  • Hypertriglyceridemia


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3

Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Other less relevant matches:

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME Is also known as osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruni√Čras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

Top 5 symptoms//phenotypes associated to Fever and Pancytopenia

Symptoms // Phenotype % cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hemophagocytosis Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Pancytopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Decreased antibody level in blood Immunodeficiency Hepatomegaly Lymphoma Recurrent infections Pneumonia Lymphoproliferative disorder

Rare Symptoms - Less than 30% cases

Severe combined immunodeficiency Thrombocytopenia Pulmonary infiltrates Hemolytic anemia Lymphopenia Autoimmune hemolytic anemia Immune dysregulation Dysgammaglobulinemia Seizures Global developmental delay Respiratory tract infection Recurrent respiratory infections Skin rash Neutropenia Aplastic anemia Combined immunodeficiency Hypofibrinogenemia Neoplasm Autoimmunity Ascites Purpura Hypertriglyceridemia Colitis Lymphocytosis Autoimmune thrombocytopenia Increased antibody level in blood Recurrent upper respiratory tract infections Vasculitis Increased serum ferritin Follicular hyperplasia Abnormality of the gastrointestinal tract Cardiac arrest Leukemia Folliculitis Partial albinism Iris hypopigmentation Hypopigmentation of hair Petechiae Premature graying of hair Hyperlipidemia Inflammation of the large intestine Intellectual disability Monocytosis Nausea and vomiting Irritability Postnatal macrocephaly Increased head circumference Biparietal narrowing Broad forehead Hepatitis Attention deficit hyperactivity disorder Autistic behavior Autism Midface retrusion Acne Long philtrum Short nose Frontal bossing Macrocephaly Depressed nasal bridge Recurrent skin infections Hypertelorism Erythema Decreased lymphocyte apoptosis Obesity Granulomatosis Jaundice Growth delay Increased body weight Recurrent otitis media Inflammatory abnormality of the skin Eczema Otitis media Cough Gastroesophageal reflux Diarrhea Failure to thrive T-cell lymphoma Oral ulcer Impaired T cell function Uveitis Reduced natural killer cell activity Granulocytopenia Abnormality of coagulation Decreased liver function Myelofibrosis Myeloproliferative disorder Pallor Decrease in T cell count Recurrent opportunistic infections Hypertonia Short stature Abnormal trabecular bone morphology Optic nerve compression Osteopetrosis Hypocalcemia Bone marrow hypocellularity Recurrent pneumonia Increased bone mineral density Progressive visual loss Nystagmus Generalized lymphadenopathy Failure to thrive secondary to recurrent infections Fatigue Histiocytosis Recurrent aphthous stomatitis Stomatitis IgG deficiency Hodgkin lymphoma Pericardial effusion Elevated erythrocyte sedimentation rate Pleural effusion Erythema nodosum


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